Canonical Allele Identifier: CA2744619327

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062853_94062854insACG , CM000663.2:g.94062853_94062854insACG	GRCh38
NC_000001.10:g.94528409_94528410insACG , CM000663.1:g.94528409_94528410insACG	GRCh37
NC_000001.9:g.94300997_94300998insACG	NCBI36
NG_009073.1:g.63296_63297insCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-101_1761-100insCGT MANE Select	ENSP00000359245.3:n.1761-101_1761-100insCGT
ENST00000649773.1:c.1761-101_1761-100insCGT	ENSP00000496882.1:n.1761-101_1761-100insCGT
ENST00000370225.3:c.1761-101_1761-100insCGT	ENSP00000359245.3:n.1761-101_1761-100insCGT
ENST00000536513.5:c.-65+320_-65+321insCGT	ENSP00000439707.2:n.-65+320_-65+321insCGT
NM_000350.2:c.1761-101_1761-100insCGT	NP_000341.2:n.1761-101_1761-100insCGT
NM_000350.3:c.1761-101_1761-100insCGT MANE Select	NP_000341.2:n.1761-101_1761-100insCGT