Canonical Allele Identifier: CA2744618382

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047217_94047223del , CM000663.2:g.94047217_94047223del	GRCh38
NC_000001.10:g.94512773_94512779del , CM000663.1:g.94512773_94512779del	GRCh37
NC_000001.9:g.94285361_94285367del	NCBI36
NG_009073.1:g.78927_78933del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-130_2744-124del MANE Select	ENSP00000359245.3:n.2744-130_2744-124del
ENST00000649773.1:c.2522-130_2522-124del	ENSP00000496882.1:n.2522-130_2522-124del
ENST00000370225.3:c.2744-130_2744-124del	ENSP00000359245.3:n.2744-130_2744-124del
ENST00000536513.5:c.-64-7134_-64-7128del	ENSP00000439707.2:n.-64-7134_-64-7128del
NM_000350.2:c.2744-130_2744-124del	NP_000341.2:n.2744-130_2744-124del
NM_000350.3:c.2744-130_2744-124del MANE Select	NP_000341.2:n.2744-130_2744-124del