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: CA1101187418

Gene:

Linked Data

dbSNP Id: rs1786193837

gnomAD v3: 7-50188172-AAAAT-A

gnomAD v4: 7-50188172-AAAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50188178_50188181del , CM000669.2:g.50188178_50188181del	GRCh38
NC_000007.13:g.50227774_50227777del , CM000669.1:g.50227774_50227777del	GRCh37
NC_000007.12:g.50198320_50198323del	NCBI36

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