Canonical Allele Identifier: CA2744619270

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062798_94062799insAGAT , CM000663.2:g.94062798_94062799insAGAT	GRCh38
NC_000001.10:g.94528354_94528355insAGAT , CM000663.1:g.94528354_94528355insAGAT	GRCh37
NC_000001.9:g.94300942_94300943insAGAT	NCBI36
NG_009073.1:g.63351_63352insATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-46_1761-45insATCT MANE Select	ENSP00000359245.3:n.1761-46_1761-45insATCT
ENST00000649773.1:c.1761-46_1761-45insATCT	ENSP00000496882.1:n.1761-46_1761-45insATCT
ENST00000370225.3:c.1761-46_1761-45insATCT	ENSP00000359245.3:n.1761-46_1761-45insATCT
ENST00000536513.5:c.-65+375_-65+376insATCT	ENSP00000439707.2:n.-65+375_-65+376insATCT
NM_000350.2:c.1761-46_1761-45insATCT	NP_000341.2:n.1761-46_1761-45insATCT
NM_000350.3:c.1761-46_1761-45insATCT MANE Select	NP_000341.2:n.1761-46_1761-45insATCT