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: CA547986368

Gene: GHSR HGNC NCBI

Linked Data

dbSNP Id: rs10618418

gnomAD v2: 3-172165177-G-GGA

gnomAD v3: 3-172447387-G-GGA

gnomAD v4: 3-172447387-G-GGA

MyVariant Identifiers: chr3:g.172165181_172165182insGA (hg19) chr3:g.172165177_172165178insGA (hg19) chr3:g.172447391_172447392insGA (hg38) chr3:g.172447387_172447388insGA (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.172447398_172447399dup , CM000665.2:g.172447398_172447399dup	GRCh38
NC_000003.11:g.172165188_172165189dup , CM000665.1:g.172165188_172165189dup	GRCh37
NC_000003.10:g.173647882_173647883dup	NCBI36
NG_021159.1:g.6068_6069dup

Transcript Alleles

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

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