Canonical Allele Identifier: CA2744617468

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041506_94041507insACAG , CM000663.2:g.94041506_94041507insACAG	GRCh38
NC_000001.10:g.94507062_94507063insACAG , CM000663.1:g.94507062_94507063insACAG	GRCh37
NC_000001.9:g.94279650_94279651insACAG	NCBI36
NG_009073.1:g.84643_84644insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-105_3329-104insCTGT MANE Select	ENSP00000359245.3:n.3329-105_3329-104insCTGT
ENST00000370225.3:c.3329-105_3329-104insCTGT	ENSP00000359245.3:n.3329-105_3329-104insCTGT
ENST00000536513.5:c.-64-1418_-64-1417insCTGT	ENSP00000439707.2:n.-64-1418_-64-1417insCTGT
NM_000350.2:c.3329-105_3329-104insCTGT	NP_000341.2:n.3329-105_3329-104insCTGT
NM_000350.3:c.3329-105_3329-104insCTGT MANE Select	NP_000341.2:n.3329-105_3329-104insCTGT