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: CA683621510

Gene:

Linked Data

dbSNP Id: rs1213595312

gnomAD v3: 12-111634687-T-TTGGAATTCAAGGTC

gnomAD v4: 12-111634687-T-TTGGAATTCAAGGTC

MyVariant Identifiers: chr12:g.112072491_112072492insTGGAATTCAAGGTC (hg19) chr12:g.111634687_111634688insTGGAATTCAAGGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111634688_111634701dup , CM000674.2:g.111634688_111634701dup	GRCh38
NC_000012.11:g.112072492_112072505dup , CM000674.1:g.112072492_112072505dup	GRCh37
NC_000012.10:g.110556875_110556888dup	NCBI36

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