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: CA174716710

Gene:

Linked Data

dbSNP Id: rs777270717

gnomAD v3: 8-29502606-A-ATTTGTATCTTTCATTGTC

gnomAD v4: 8-29502606-A-ATTTGTATCTTTCATTGTC

MyVariant Identifiers: chr8:g.29360123_29360124insTTTGTATCTTTCATTGTC (hg19) chr8:g.29502606_29502607insTTTGTATCTTTCATTGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.29502622_29502639dup , CM000670.2:g.29502622_29502639dup	GRCh38
NC_000008.10:g.29360139_29360156dup , CM000670.1:g.29360139_29360156dup	GRCh37
NC_000008.9:g.29416058_29416075dup	NCBI36

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