Canonical Allele Identifier: CA155828865

Gene:

Linked Data

• dbSNP Id: rs933525045
• gnomAD v2: 7-24323443-C-CT
• gnomAD v3: 7-24283824-C-CT
• gnomAD v4: 7-24283824-C-CT
• MyVariant Identifiers: chr7:g.24323443_24323444insT (hg19) ; chr7:g.24283824_24283825insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24283825dup , CM000669.2:g.24283825dup	GRCh38
NC_000007.13:g.24323444dup , CM000669.1:g.24323444dup	GRCh37
NC_000007.12:g.24289969dup	NCBI36
NG_016148.1:g.4638dup

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.42-28126dup	XP_016868399.1:n.42-28126dup
XM_017012911.1:c.42-28126dup	XP_016868400.1:n.42-28126dup
XR_001745121.1:n.473+35532dup
XR_001745122.1:n.345-86796dup
XR_001745123.1:n.473+35532dup
XR_001745124.1:n.473+35532dup
XR_001745125.1:n.473+35532dup
XR_001745126.1:n.473+35532dup
XR_001745127.1:n.345-28126dup
XR_001745129.1:n.473+35532dup
XR_001745130.1:n.473+35532dup
XR_001745131.1:n.473+35532dup
XR_001745132.1:n.473+35532dup