Canonical Allele Identifier: CA2744618322

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047133_94047134insA , CM000663.2:g.94047133_94047134insA	GRCh38
NC_000001.10:g.94512689_94512690insA , CM000663.1:g.94512689_94512690insA	GRCh37
NC_000001.9:g.94285277_94285278insA	NCBI36
NG_009073.1:g.79016_79017insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-41_2744-40insT MANE Select	ENSP00000359245.3:n.2744-41_2744-40insT
ENST00000649773.1:c.2522-41_2522-40insT	ENSP00000496882.1:n.2522-41_2522-40insT
ENST00000370225.3:c.2744-41_2744-40insT	ENSP00000359245.3:n.2744-41_2744-40insT
ENST00000536513.5:c.-64-7045_-64-7044insT	ENSP00000439707.2:n.-64-7045_-64-7044insT
NM_000350.2:c.2744-41_2744-40insT	NP_000341.2:n.2744-41_2744-40insT
NM_000350.3:c.2744-41_2744-40insT MANE Select	NP_000341.2:n.2744-41_2744-40insT