Canonical Allele Identifier: CA2744619109

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060798_94060799insACA , CM000663.2:g.94060798_94060799insACA	GRCh38
NC_000001.10:g.94526354_94526355insACA , CM000663.1:g.94526354_94526355insACA	GRCh37
NC_000001.9:g.94298942_94298943insACA	NCBI36
NG_009073.1:g.65351_65352insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-40_1938-39insTGT MANE Select	ENSP00000359245.3:n.1938-40_1938-39insTGT
ENST00000649773.1:c.1938-40_1938-39insTGT	ENSP00000496882.1:n.1938-40_1938-39insTGT
ENST00000370225.3:c.1938-40_1938-39insTGT	ENSP00000359245.3:n.1938-40_1938-39insTGT
ENST00000472033.1:n.58-40_58-39insTGT
ENST00000536513.5:c.-65+2375_-65+2376insTGT	ENSP00000439707.2:n.-65+2375_-65+2376insTGT
NM_000350.2:c.1938-40_1938-39insTGT	NP_000341.2:n.1938-40_1938-39insTGT
NM_000350.3:c.1938-40_1938-39insTGT MANE Select	NP_000341.2:n.1938-40_1938-39insTGT