Canonical Allele Identifier: CA833583292

Gene:

Linked Data

• dbSNP Id: rs1240586348
• gnomAD v3: 7-13400509-TGA-T
• gnomAD v4: 7-13400509-TGA-T
• MyVariant Identifiers: chr7:g.13440135_13440136del (hg19) ; chr7:g.13400510_13400511del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.13400510_13400511del , CM000669.2:g.13400510_13400511del	GRCh38
NC_000007.13:g.13440135_13440136del , CM000669.1:g.13440135_13440136del	GRCh37
NC_000007.12:g.13406660_13406661del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745097.1:n.147+90187_147+90188del