Canonical Allele Identifier: CA2744616590

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030650_94030651insA , CM000663.2:g.94030650_94030651insA	GRCh38
NC_000001.10:g.94496206_94496207insA , CM000663.1:g.94496206_94496207insA	GRCh37
NC_000001.9:g.94268794_94268795insA	NCBI36
NG_009073.1:g.95499_95500insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-125_4254-124insT MANE Select	ENSP00000359245.3:n.4254-125_4254-124insT
ENST00000370225.3:c.4254-125_4254-124insT	ENSP00000359245.3:n.4254-125_4254-124insT
ENST00000536513.5:c.630-125_630-124insT	ENSP00000439707.2:n.630-125_630-124insT
NM_000350.2:c.4254-125_4254-124insT	NP_000341.2:n.4254-125_4254-124insT
NM_000350.3:c.4254-125_4254-124insT MANE Select	NP_000341.2:n.4254-125_4254-124insT