Canonical Allele Identifier: CA2682048990

Gene:

Linked Data

• gnomAD v4: 7-24291879-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24291884dup , CM000669.2:g.24291884dup	GRCh38
NC_000007.13:g.24331503dup , CM000669.1:g.24331503dup	GRCh37
NC_000007.12:g.24298028dup	NCBI36
NG_016148.1:g.12697dup

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.41+27477dup	XP_016868399.1:n.41+27477dup
XM_017012911.1:c.41+27477dup	XP_016868400.1:n.41+27477dup
XR_001745121.1:n.473+27477dup
XR_001745122.1:n.345-94851dup
XR_001745123.1:n.473+27477dup
XR_001745124.1:n.473+27477dup
XR_001745125.1:n.473+27477dup
XR_001745126.1:n.473+27477dup
XR_001745127.1:n.345-36181dup
XR_001745129.1:n.473+27477dup
XR_001745130.1:n.473+27477dup
XR_001745131.1:n.473+27477dup
XR_001745132.1:n.473+27477dup