Canonical Allele Identifier: CA2744618340

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047168_94047169insACA , CM000663.2:g.94047168_94047169insACA	GRCh38
NC_000001.10:g.94512724_94512725insACA , CM000663.1:g.94512724_94512725insACA	GRCh37
NC_000001.9:g.94285312_94285313insACA	NCBI36
NG_009073.1:g.78981_78982insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-76_2744-75insTGT MANE Select	ENSP00000359245.3:n.2744-76_2744-75insTGT
ENST00000649773.1:c.2522-76_2522-75insTGT	ENSP00000496882.1:n.2522-76_2522-75insTGT
ENST00000370225.3:c.2744-76_2744-75insTGT	ENSP00000359245.3:n.2744-76_2744-75insTGT
ENST00000536513.5:c.-64-7080_-64-7079insTGT	ENSP00000439707.2:n.-64-7080_-64-7079insTGT
NM_000350.2:c.2744-76_2744-75insTGT	NP_000341.2:n.2744-76_2744-75insTGT
NM_000350.3:c.2744-76_2744-75insTGT MANE Select	NP_000341.2:n.2744-76_2744-75insTGT