Canonical Allele Identifier: CA1694877534

Gene:

Linked Data

• dbSNP Id: rs1787635029
• gnomAD v4: 7-24291918-CTTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24291925_24291927del , CM000669.2:g.24291925_24291927del	GRCh38
NC_000007.13:g.24331544_24331546del , CM000669.1:g.24331544_24331546del	GRCh37
NC_000007.12:g.24298069_24298071del	NCBI36
NG_016148.1:g.12738_12740del

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.41+27436_41+27438del	XP_016868399.1:n.41+27436_41+27438del
XM_017012911.1:c.41+27436_41+27438del	XP_016868400.1:n.41+27436_41+27438del
XR_001745121.1:n.473+27436_473+27438del
XR_001745122.1:n.345-94892_345-94890del
XR_001745123.1:n.473+27436_473+27438del
XR_001745124.1:n.473+27436_473+27438del
XR_001745125.1:n.473+27436_473+27438del
XR_001745126.1:n.473+27436_473+27438del
XR_001745127.1:n.345-36222_345-36220del
XR_001745129.1:n.473+27436_473+27438del
XR_001745130.1:n.473+27436_473+27438del
XR_001745131.1:n.473+27436_473+27438del
XR_001745132.1:n.473+27436_473+27438del