Canonical Allele Identifier: CA1016258734

Gene:

Linked Data

• dbSNP Id: rs1980378582
• gnomAD v3: 20-23661706-CAA-C
• gnomAD v4: 20-23661706-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23661708_23661709del , CM000682.2:g.23661708_23661709del	GRCh38
NC_000020.10:g.23642345_23642346del , CM000682.1:g.23642345_23642346del	GRCh37
NC_000020.9:g.23590345_23590346del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001754712.1:n.280+58_280+59del