Canonical Allele Identifier: CA1181418873

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062776_94062777delinsAG , CM000663.2:g.94062776_94062777delinsAG	GRCh38
NC_000001.10:g.94528332_94528333delinsAG , CM000663.1:g.94528332_94528333delinsAG	GRCh37
NC_000001.9:g.94300920_94300921delinsAG	NCBI36
NG_009073.1:g.63373_63374delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-24_1761-23delinsCT MANE Select	ENSP00000359245.3:n.1761-24_1761-23delinsCT
ENST00000649773.1:c.1761-24_1761-23delinsCT	ENSP00000496882.1:n.1761-24_1761-23delinsCT
ENST00000370225.3:c.1761-24_1761-23delinsCT	ENSP00000359245.3:n.1761-24_1761-23delinsCT
ENST00000536513.5:c.-65+397_-65+398delinsCT	ENSP00000439707.2:n.-65+397_-65+398delinsCT
NM_000350.2:c.1761-24_1761-23delinsCT	NP_000341.2:n.1761-24_1761-23delinsCT
NM_000350.3:c.1761-24_1761-23delinsCT MANE Select	NP_000341.2:n.1761-24_1761-23delinsCT