Canonical Allele Identifier: CA919928714

Gene:

Linked Data

• dbSNP Id: rs1567972453
• gnomAD v3: 18-10321213-GAC-G
• gnomAD v4: 18-10321213-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10321217_10321218del , CM000680.2:g.10321217_10321218del	GRCh38
NC_000018.9:g.10321214_10321215del , CM000680.1:g.10321214_10321215del	GRCh37
NC_000018.8:g.10311214_10311215del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935138.1:n.665+933_665+934del
XR_001753344.1:n.650+933_650+934del
XR_001753345.1:n.906_907del
XR_001753346.1:n.549+933_549+934del