Canonical Allele Identifier: CA2744617528

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041529_94041530insACAC , CM000663.2:g.94041529_94041530insACAC	GRCh38
NC_000001.10:g.94507085_94507086insACAC , CM000663.1:g.94507085_94507086insACAC	GRCh37
NC_000001.9:g.94279673_94279674insACAC	NCBI36
NG_009073.1:g.84620_84621insGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-128_3329-127insGTGT MANE Select	ENSP00000359245.3:n.3329-128_3329-127insGTGT
ENST00000370225.3:c.3329-128_3329-127insGTGT	ENSP00000359245.3:n.3329-128_3329-127insGTGT
ENST00000536513.5:c.-64-1441_-64-1440insGTGT	ENSP00000439707.2:n.-64-1441_-64-1440insGTGT
NM_000350.2:c.3329-128_3329-127insGTGT	NP_000341.2:n.3329-128_3329-127insGTGT
NM_000350.3:c.3329-128_3329-127insGTGT MANE Select	NP_000341.2:n.3329-128_3329-127insGTGT