Canonical Allele Identifier: CA784579984

Gene:

Linked Data

• dbSNP Id: rs1330308808
• gnomAD v3: 4-102501092-A-AGGGGCCGCGGCGTC
• gnomAD v4: 4-102501092-A-AGGGGCCGCGGCGTC
• MyVariant Identifiers: chr4:g.103422249_103422250insGGGGCCGCGGCGTC (hg19) ; chr4:g.102501092_102501093insGGGGCCGCGGCGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102501093_102501106dup , CM000666.2:g.102501093_102501106dup	GRCh38
NC_000004.11:g.103422250_103422263dup , CM000666.1:g.103422250_103422263dup	GRCh37
NC_000004.10:g.103641282_103641295dup	NCBI36
NG_050628.1:g.4765_4778dup

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+143_643+156dup	XP_011530769.1:n.643+143_643+156dup
NR_136202.1:n.48+1333_48+1346dup