Canonical Allele Identifier: CA2744619307

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062835_94062836insAGT , CM000663.2:g.94062835_94062836insAGT	GRCh38
NC_000001.10:g.94528391_94528392insAGT , CM000663.1:g.94528391_94528392insAGT	GRCh37
NC_000001.9:g.94300979_94300980insAGT	NCBI36
NG_009073.1:g.63314_63315insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-83_1761-82insACT MANE Select	ENSP00000359245.3:n.1761-83_1761-82insACT
ENST00000649773.1:c.1761-83_1761-82insACT	ENSP00000496882.1:n.1761-83_1761-82insACT
ENST00000370225.3:c.1761-83_1761-82insACT	ENSP00000359245.3:n.1761-83_1761-82insACT
ENST00000536513.5:c.-65+338_-65+339insACT	ENSP00000439707.2:n.-65+338_-65+339insACT
NM_000350.2:c.1761-83_1761-82insACT	NP_000341.2:n.1761-83_1761-82insACT
NM_000350.3:c.1761-83_1761-82insACT MANE Select	NP_000341.2:n.1761-83_1761-82insACT