Canonical Allele Identifier: CA2744619301

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062831_94062832insA , CM000663.2:g.94062831_94062832insA	GRCh38
NC_000001.10:g.94528387_94528388insA , CM000663.1:g.94528387_94528388insA	GRCh37
NC_000001.9:g.94300975_94300976insA	NCBI36
NG_009073.1:g.63318_63319insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-79_1761-78insT MANE Select	ENSP00000359245.3:n.1761-79_1761-78insT
ENST00000649773.1:c.1761-79_1761-78insT	ENSP00000496882.1:n.1761-79_1761-78insT
ENST00000370225.3:c.1761-79_1761-78insT	ENSP00000359245.3:n.1761-79_1761-78insT
ENST00000536513.5:c.-65+342_-65+343insT	ENSP00000439707.2:n.-65+342_-65+343insT
NM_000350.2:c.1761-79_1761-78insT	NP_000341.2:n.1761-79_1761-78insT
NM_000350.3:c.1761-79_1761-78insT MANE Select	NP_000341.2:n.1761-79_1761-78insT