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: CA832478727

Gene:

Linked Data

dbSNP Id: rs1218016790

gnomAD v3: 7-121635193-CAAA-C

gnomAD v4: 7-121635193-CAAA-C

MyVariant Identifiers: chr7:g.121275248_121275250del (hg19) chr7:g.121635194_121635196del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.121635196_121635198del , CM000669.2:g.121635196_121635198del	GRCh38
NC_000007.13:g.121275250_121275252del , CM000669.1:g.121275250_121275252del	GRCh37
NC_000007.12:g.121062486_121062488del	NCBI36

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