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: CA756214952

Gene:

Linked Data

dbSNP Id: rs1465005779

gnomAD v3: 2-122883994-CTT-C

gnomAD v4: 2-122883994-CTT-C

MyVariant Identifiers: chr2:g.123641571_123641572del (hg19) chr2:g.122883995_122883996del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122883995_122883996del , CM000664.2:g.122883995_122883996del	GRCh38
NC_000002.11:g.123641571_123641572del , CM000664.1:g.123641571_123641572del	GRCh37
NC_000002.10:g.123358041_123358042del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_923292.1:n.1125-947_1125-946del
XR_001739692.1:n.1451-947_1451-946del
XR_923292.2:n.1358-947_1358-946del

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