Canonical Allele Identifier: CA730997242

Gene:

Linked Data

• dbSNP Id: rs1389074198
• gnomAD v3: 1-211379655-CAG-C
• gnomAD v4: 1-211379655-CAG-C
• MyVariant Identifiers: chr1:g.211552998_211552999del (hg19) ; chr1:g.211379656_211379657del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211379660_211379661del , CM000663.2:g.211379660_211379661del	GRCh38
NC_000001.10:g.211553002_211553003del , CM000663.1:g.211553002_211553003del	GRCh37
NC_000001.9:g.209619625_209619626del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001738446.1:n.291+2538_292-2540del