Canonical Allele Identifier: CA2744616640

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030705_94030706insAGT , CM000663.2:g.94030705_94030706insAGT	GRCh38
NC_000001.10:g.94496261_94496262insAGT , CM000663.1:g.94496261_94496262insAGT	GRCh37
NC_000001.9:g.94268849_94268850insAGT	NCBI36
NG_009073.1:g.95444_95445insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-180_4254-179insACT MANE Select	ENSP00000359245.3:n.4254-180_4254-179insACT
ENST00000370225.3:c.4254-180_4254-179insACT	ENSP00000359245.3:n.4254-180_4254-179insACT
ENST00000536513.5:c.630-180_630-179insACT	ENSP00000439707.2:n.630-180_630-179insACT
NM_000350.2:c.4254-180_4254-179insACT	NP_000341.2:n.4254-180_4254-179insACT
NM_000350.3:c.4254-180_4254-179insACT MANE Select	NP_000341.2:n.4254-180_4254-179insACT