Canonical Allele Identifier: CA2744618377

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047204_94047212del , CM000663.2:g.94047204_94047212del	GRCh38
NC_000001.10:g.94512760_94512768del , CM000663.1:g.94512760_94512768del	GRCh37
NC_000001.9:g.94285348_94285356del	NCBI36
NG_009073.1:g.78938_78946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-119_2744-111del MANE Select	ENSP00000359245.3:n.2744-119_2744-111del
ENST00000649773.1:c.2522-119_2522-111del	ENSP00000496882.1:n.2522-119_2522-111del
ENST00000370225.3:c.2744-119_2744-111del	ENSP00000359245.3:n.2744-119_2744-111del
ENST00000536513.5:c.-64-7123_-64-7115del	ENSP00000439707.2:n.-64-7123_-64-7115del
NM_000350.2:c.2744-119_2744-111del	NP_000341.2:n.2744-119_2744-111del
NM_000350.3:c.2744-119_2744-111del MANE Select	NP_000341.2:n.2744-119_2744-111del