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: CA1080086718

Gene:

Linked Data

dbSNP Id: rs1753798156

gnomAD v3: 5-111131669-CA-C

gnomAD v4: 5-111131669-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.111131670del , CM000667.2:g.111131670del	GRCh38
NC_000005.9:g.110467368del , CM000667.1:g.110467368del	GRCh37
NC_000005.8:g.110495267del	NCBI36
NG_008979.1:g.44499del

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