Canonical Allele Identifier: CA2520419147

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041129_94041130insCC , CM000663.2:g.94041129_94041130insCC	GRCh38
NC_000001.10:g.94506685_94506686insCC , CM000663.1:g.94506685_94506686insCC	GRCh37
NC_000001.9:g.94279273_94279274insCC	NCBI36
NG_009073.1:g.85020_85021insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3522+79_3522+80insGG MANE Select	ENSP00000359245.3:n.3522+79_3522+80insGG
ENST00000370225.3:c.3522+79_3522+80insGG	ENSP00000359245.3:n.3522+79_3522+80insGG
ENST00000536513.5:c.-64-1041_-64-1040insGG	ENSP00000439707.2:n.-64-1041_-64-1040insGG
NM_000350.2:c.3522+79_3522+80insGG	NP_000341.2:n.3522+79_3522+80insGG
NM_000350.3:c.3522+79_3522+80insGG MANE Select	NP_000341.2:n.3522+79_3522+80insGG