Canonical Allele Identifier: CA2574437747

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93996035_93996036insG , CM000663.2:g.93996035_93996036insG	GRCh38
NC_000001.10:g.94461591_94461592insG , CM000663.1:g.94461591_94461592insG	GRCh37
NC_000001.9:g.94234179_94234180insG	NCBI36
NG_009073.1:g.130114_130115insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6816+73_6816+74insC MANE Select	ENSP00000359245.3:n.6816+73_6816+74insC
ENST00000370225.3:c.6816+73_6816+74insC	ENSP00000359245.3:n.6816+73_6816+74insC
ENST00000536513.5:c.3192+73_3192+74insC	ENSP00000439707.2:n.3192+73_3192+74insC
NM_000350.2:c.6816+73_6816+74insC	NP_000341.2:n.6816+73_6816+74insC
NM_000350.3:c.6816+73_6816+74insC MANE Select	NP_000341.2:n.6816+73_6816+74insC