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: CA1068615396

Gene:

Linked Data

dbSNP Id: rs1731845993

gnomAD v3: 4-138508738-ACTT-A

gnomAD v4: 4-138508738-ACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.138508740_138508742del , CM000666.2:g.138508740_138508742del	GRCh38
NC_000004.11:g.139429894_139429896del , CM000666.1:g.139429894_139429896del	GRCh37
NC_000004.10:g.139649344_139649346del	NCBI36

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