Canonical Allele Identifier: CA2744618383

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047217_94047218insACA , CM000663.2:g.94047217_94047218insACA	GRCh38
NC_000001.10:g.94512773_94512774insACA , CM000663.1:g.94512773_94512774insACA	GRCh37
NC_000001.9:g.94285361_94285362insACA	NCBI36
NG_009073.1:g.78932_78933insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-125_2744-124insTGT MANE Select	ENSP00000359245.3:n.2744-125_2744-124insTGT
ENST00000649773.1:c.2522-125_2522-124insTGT	ENSP00000496882.1:n.2522-125_2522-124insTGT
ENST00000370225.3:c.2744-125_2744-124insTGT	ENSP00000359245.3:n.2744-125_2744-124insTGT
ENST00000536513.5:c.-64-7129_-64-7128insTGT	ENSP00000439707.2:n.-64-7129_-64-7128insTGT
NM_000350.2:c.2744-125_2744-124insTGT	NP_000341.2:n.2744-125_2744-124insTGT
NM_000350.3:c.2744-125_2744-124insTGT MANE Select	NP_000341.2:n.2744-125_2744-124insTGT