Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA87784353

Gene: GHSR HGNC NCBI

Linked Data

ClinVar Variation Id: 1239231

ClinVar RCV Id: RCV001636139

dbSNP Id: rs10618418

gnomAD v2: 3-172165177-GGA-G

gnomAD v3: 3-172447387-GGA-G

gnomAD v4: 3-172447387-GGA-G

MyVariant Identifiers: chr3:g.172165180_172165181del (hg19) chr3:g.172165178_172165179del (hg19) chr3:g.172447390_172447391del (hg38) chr3:g.172447388_172447389del (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.172447398_172447399del , CM000665.2:g.172447398_172447399del	GRCh38
NC_000003.11:g.172165188_172165189del , CM000665.1:g.172165188_172165189del	GRCh37
NC_000003.10:g.173647882_173647883del	NCBI36
NG_021159.1:g.6068_6069del

Transcript Alleles

HGVS	Amino-acid change
ENST00000241256.3:c.796+229_796+230del MANE Select	ENSP00000241256.2:n.796+229_796+230del
ENST00000241256.2:c.796+229_796+230del	ENSP00000241256.2:n.796+229_796+230del
NM_198407.2:c.796+229_796+230del MANE Select	NP_940799.1:n.796+229_796+230del

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