Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA953408091

Gene:

Linked Data

dbSNP Id: rs1953653101

gnomAD v3: 12-131529681-AC-A

gnomAD v4: 12-131529681-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131529682del , CM000674.2:g.131529682del	GRCh38
NC_000012.11:g.132014227del , CM000674.1:g.132014227del	GRCh37
NC_000012.10:g.130580180del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_945564.1:n.1076+93del
XR_001749407.2:n.1067+93del

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