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: CA760613659

Gene: GAD1 HGNC NCBI

Linked Data

dbSNP Id: rs1348678792

MyVariant Identifiers: chr2:g.171670754_171670757del (hg19) chr2:g.170814244_170814247del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.170814249_170814252del , CM000664.2:g.170814249_170814252del	GRCh38
NC_000002.11:g.171670759_171670762del , CM000664.1:g.171670759_171670762del	GRCh37
NC_000002.10:g.171379005_171379008del	NCBI36
NG_021477.1:g.2560_2563del

Transcript Alleles

HGVS	Amino-acid change
ENST00000454603.5:c.-64+827_-64+830del	ENSP00000402366.1:n.-64+827_-64+830del
XM_011510922.1:c.-64+827_-64+830del	XP_011509224.1:n.-64+827_-64+830del

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