Canonical Allele Identifier: CA2744619180

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060883_94060884insA , CM000663.2:g.94060883_94060884insA	GRCh38
NC_000001.10:g.94526439_94526440insA , CM000663.1:g.94526439_94526440insA	GRCh37
NC_000001.9:g.94299027_94299028insA	NCBI36
NG_009073.1:g.65266_65267insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-125_1938-124insT MANE Select	ENSP00000359245.3:n.1938-125_1938-124insT
ENST00000649773.1:c.1938-125_1938-124insT	ENSP00000496882.1:n.1938-125_1938-124insT
ENST00000370225.3:c.1938-125_1938-124insT	ENSP00000359245.3:n.1938-125_1938-124insT
ENST00000472033.1:n.58-125_58-124insT
ENST00000536513.5:c.-65+2290_-65+2291insT	ENSP00000439707.2:n.-65+2290_-65+2291insT
NM_000350.2:c.1938-125_1938-124insT	NP_000341.2:n.1938-125_1938-124insT
NM_000350.3:c.1938-125_1938-124insT MANE Select	NP_000341.2:n.1938-125_1938-124insT