Enum: AllelicStateEnum

Allelic state/zygosity of a variant or genetic feature

Permissible Values

Value	Meaning	Description
HETEROZYGOUS	GENO:0000135	Different alleles at a locus
HOMOZYGOUS	GENO:0000136	Identical alleles at a locus
HEMIZYGOUS	GENO:0000134	Only one allele present (e
COMPOUND_HETEROZYGOUS	GENO:0000402	Two different heterozygous variants in same gene
HOMOZYGOUS_REFERENCE	GENO:0000036	Two reference/wild-type alleles
HOMOZYGOUS_ALTERNATE	GENO:0000002	Two alternate/variant alleles

Slots

Name	Description
allelic_state	Allelic state/zygosity of a variant or genetic feature

Identifier and Mapping Information

Annotations

property	value
stewards	https://phenopackets.org
publishers	https://ga4gh.org

Schema Source

from schema: https://w3id.org/linkml/valuesets

LinkML Source

name: AllelicStateEnum
instantiates:
- valuesets_meta:ValueSetEnumDefinition
annotations:
  stewards:
    tag: stewards
    value: https://phenopackets.org
  publishers:
    tag: publishers
    value: https://ga4gh.org
description: Allelic state/zygosity of a variant or genetic feature
title: Allelic State
from_schema: https://w3id.org/linkml/valuesets
contributors:
- orcid:0000-0002-6601-2165
- https://github.com/anthropics/claude-code
status: STANDARD
rank: 1000
permissible_values:
  HETEROZYGOUS:
    text: HETEROZYGOUS
    description: Different alleles at a locus
    meaning: GENO:0000135
    annotations:
      symbol:
        tag: symbol
        value: het
  HOMOZYGOUS:
    text: HOMOZYGOUS
    description: Identical alleles at a locus
    meaning: GENO:0000136
    annotations:
      symbol:
        tag: symbol
        value: hom
  HEMIZYGOUS:
    text: HEMIZYGOUS
    description: Only one allele present (e.g., X-linked in males)
    meaning: GENO:0000134
    annotations:
      symbol:
        tag: symbol
        value: hemi
      note:
        tag: note
        value: Common for X-linked genes in males
  COMPOUND_HETEROZYGOUS:
    text: COMPOUND_HETEROZYGOUS
    description: Two different heterozygous variants in same gene
    meaning: GENO:0000402
    annotations:
      symbol:
        tag: symbol
        value: comp het
  HOMOZYGOUS_REFERENCE:
    text: HOMOZYGOUS_REFERENCE
    description: Two reference/wild-type alleles
    meaning: GENO:0000036
    annotations:
      symbol:
        tag: symbol
        value: hom ref
    title: reference allele
  HOMOZYGOUS_ALTERNATE:
    text: HOMOZYGOUS_ALTERNATE
    description: Two alternate/variant alleles
    meaning: GENO:0000002
    annotations:
      symbol:
        tag: symbol
        value: hom alt
    title: variant allele