Canonical Allele Identifier: CA2744618325

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047144_94047145insAGT , CM000663.2:g.94047144_94047145insAGT	GRCh38
NC_000001.10:g.94512700_94512701insAGT , CM000663.1:g.94512700_94512701insAGT	GRCh37
NC_000001.9:g.94285288_94285289insAGT	NCBI36
NG_009073.1:g.79005_79006insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-52_2744-51insACT MANE Select	ENSP00000359245.3:n.2744-52_2744-51insACT
ENST00000649773.1:c.2522-52_2522-51insACT	ENSP00000496882.1:n.2522-52_2522-51insACT
ENST00000370225.3:c.2744-52_2744-51insACT	ENSP00000359245.3:n.2744-52_2744-51insACT
ENST00000536513.5:c.-64-7056_-64-7055insACT	ENSP00000439707.2:n.-64-7056_-64-7055insACT
NM_000350.2:c.2744-52_2744-51insACT	NP_000341.2:n.2744-52_2744-51insACT
NM_000350.3:c.2744-52_2744-51insACT MANE Select	NP_000341.2:n.2744-52_2744-51insACT