Canonical Allele Identifier: CA2744615633

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021497_94021498insGAG , CM000663.2:g.94021497_94021498insGAG	GRCh38
NC_000001.10:g.94487053_94487054insGAG , CM000663.1:g.94487053_94487054insGAG	GRCh37
NC_000001.9:g.94259641_94259642insGAG	NCBI36
NG_009073.1:g.104652_104653insCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-89_4849-88insCTC MANE Select	ENSP00000359245.3:n.4849-89_4849-88insCTC
ENST00000370225.3:c.4849-89_4849-88insCTC	ENSP00000359245.3:n.4849-89_4849-88insCTC
ENST00000460514.1:n.343-89_343-88insCTC
ENST00000536513.5:c.1225-89_1225-88insCTC	ENSP00000439707.2:n.1225-89_1225-88insCTC
NM_000350.2:c.4849-89_4849-88insCTC	NP_000341.2:n.4849-89_4849-88insCTC
NM_000350.3:c.4849-89_4849-88insCTC MANE Select	NP_000341.2:n.4849-89_4849-88insCTC