Canonical Allele Identifier: CA2744618355

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047178_94047179insAGT , CM000663.2:g.94047178_94047179insAGT	GRCh38
NC_000001.10:g.94512734_94512735insAGT , CM000663.1:g.94512734_94512735insAGT	GRCh37
NC_000001.9:g.94285322_94285323insAGT	NCBI36
NG_009073.1:g.78971_78972insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-86_2744-85insACT MANE Select	ENSP00000359245.3:n.2744-86_2744-85insACT
ENST00000649773.1:c.2522-86_2522-85insACT	ENSP00000496882.1:n.2522-86_2522-85insACT
ENST00000370225.3:c.2744-86_2744-85insACT	ENSP00000359245.3:n.2744-86_2744-85insACT
ENST00000536513.5:c.-64-7090_-64-7089insACT	ENSP00000439707.2:n.-64-7090_-64-7089insACT
NM_000350.2:c.2744-86_2744-85insACT	NP_000341.2:n.2744-86_2744-85insACT
NM_000350.3:c.2744-86_2744-85insACT MANE Select	NP_000341.2:n.2744-86_2744-85insACT