Canonical Allele Identifier: CA1065916264

Gene:

Linked Data

• dbSNP Id: rs1722559924
• gnomAD v3: 4-99474213-TAGG-T
• gnomAD v4: 4-99474213-TAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474216_99474218del , CM000666.2:g.99474216_99474218del	GRCh38
NC_000004.11:g.100395373_100395375del , CM000666.1:g.100395373_100395375del	GRCh37
NC_000004.10:g.100614396_100614398del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.243-2354_243-2352del