Canonical Allele Identifier: CA553749342

Gene:

Linked Data

• dbSNP Id: rs1288308421
• gnomAD v2: 4-103422101-C-CT
• gnomAD v3: 4-102500944-C-CT
• gnomAD v4: 4-102500944-C-CT
• MyVariant Identifiers: chr4:g.103422101_103422102insT (hg19) ; chr4:g.102500944_102500945insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102500945dup , CM000666.2:g.102500945dup	GRCh38
NC_000004.11:g.103422102dup , CM000666.1:g.103422102dup	GRCh37
NC_000004.10:g.103641134dup	NCBI36
NG_050628.1:g.4617dup

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+304dup	XP_011530769.1:n.643+304dup
NR_136202.1:n.48+1494dup