Canonical Allele Identifier: CA2744619344

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062887_94062888insAC , CM000663.2:g.94062887_94062888insAC	GRCh38
NC_000001.10:g.94528443_94528444insAC , CM000663.1:g.94528443_94528444insAC	GRCh37
NC_000001.9:g.94301031_94301032insAC	NCBI36
NG_009073.1:g.63262_63263insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-135_1761-134insGT MANE Select	ENSP00000359245.3:n.1761-135_1761-134insGT
ENST00000649773.1:c.1761-135_1761-134insGT	ENSP00000496882.1:n.1761-135_1761-134insGT
ENST00000370225.3:c.1761-135_1761-134insGT	ENSP00000359245.3:n.1761-135_1761-134insGT
ENST00000536513.5:c.-65+286_-65+287insGT	ENSP00000439707.2:n.-65+286_-65+287insGT
NM_000350.2:c.1761-135_1761-134insGT	NP_000341.2:n.1761-135_1761-134insGT
NM_000350.3:c.1761-135_1761-134insGT MANE Select	NP_000341.2:n.1761-135_1761-134insGT