Canonical Allele Identifier: CA2744619158

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060854_94060855insA , CM000663.2:g.94060854_94060855insA	GRCh38
NC_000001.10:g.94526410_94526411insA , CM000663.1:g.94526410_94526411insA	GRCh37
NC_000001.9:g.94298998_94298999insA	NCBI36
NG_009073.1:g.65295_65296insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-96_1938-95insT MANE Select	ENSP00000359245.3:n.1938-96_1938-95insT
ENST00000649773.1:c.1938-96_1938-95insT	ENSP00000496882.1:n.1938-96_1938-95insT
ENST00000370225.3:c.1938-96_1938-95insT	ENSP00000359245.3:n.1938-96_1938-95insT
ENST00000472033.1:n.58-96_58-95insT
ENST00000536513.5:c.-65+2319_-65+2320insT	ENSP00000439707.2:n.-65+2319_-65+2320insT
NM_000350.2:c.1938-96_1938-95insT	NP_000341.2:n.1938-96_1938-95insT
NM_000350.3:c.1938-96_1938-95insT MANE Select	NP_000341.2:n.1938-96_1938-95insT