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: CA525043247

Gene:

Linked Data

dbSNP Id: rs1384926717

gnomAD v2: 1-105227865-TGCAGCTG-T

gnomAD v3: 1-104685243-TGCAGCTG-T

gnomAD v4: 1-104685243-TGCAGCTG-T

MyVariant Identifiers: chr1:g.105227866_105227872del (hg19) chr1:g.104685244_104685250del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.104685247_104685253del , CM000663.2:g.104685247_104685253del	GRCh38
NC_000001.10:g.105227869_105227875del , CM000663.1:g.105227869_105227875del	GRCh37
NC_000001.9:g.105029392_105029398del	NCBI36

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