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: CA692339869

Gene:

Linked Data

dbSNP Id: rs1309088782

MyVariant Identifiers: chr12:g.80462967_80462988del (hg19) chr12:g.80069187_80069208del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80069188_80069209del , CM000674.2:g.80069188_80069209del	GRCh38
NC_000012.11:g.80462968_80462989del , CM000674.1:g.80462968_80462989del	GRCh37
NC_000012.10:g.78987099_78987120del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_945140.1:n.456+8006_456+8027del
XR_945141.1:n.1758+8006_1758+8027del

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