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: CA1073547679

Gene:

Linked Data

dbSNP Id: rs1735930207

gnomAD v3: 5-16038073-AGG-A

gnomAD v4: 5-16038073-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.16038074_16038075del , CM000667.2:g.16038074_16038075del	GRCh38
NC_000005.9:g.16038183_16038184del , CM000667.1:g.16038183_16038184del	GRCh37
NC_000005.8:g.16091183_16091184del	NCBI36

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