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: CA572545975

Gene:

Linked Data

dbSNP Id: rs1462387961

gnomAD v2: 7-9266311-A-ATGACG

gnomAD v3: 7-9226681-A-ATGACG

gnomAD v4: 7-9226681-A-ATGACG

MyVariant Identifiers: chr7:g.9266311_9266312insTGACG (hg19) chr7:g.9226681_9226682insTGACG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.9226683_9226687dup , CM000669.2:g.9226683_9226687dup	GRCh38
NC_000007.13:g.9266313_9266317dup , CM000669.1:g.9266313_9266317dup	GRCh37
NC_000007.12:g.9232838_9232842dup	NCBI36

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