Canonical Allele Identifier: CA2744617326

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041469_94041470insAGT , CM000663.2:g.94041469_94041470insAGT	GRCh38
NC_000001.10:g.94507025_94507026insAGT , CM000663.1:g.94507025_94507026insAGT	GRCh37
NC_000001.9:g.94279613_94279614insAGT	NCBI36
NG_009073.1:g.84680_84681insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-68_3329-67insACT MANE Select	ENSP00000359245.3:n.3329-68_3329-67insACT
ENST00000370225.3:c.3329-68_3329-67insACT	ENSP00000359245.3:n.3329-68_3329-67insACT
ENST00000536513.5:c.-64-1381_-64-1380insACT	ENSP00000439707.2:n.-64-1381_-64-1380insACT
NM_000350.2:c.3329-68_3329-67insACT	NP_000341.2:n.3329-68_3329-67insACT
NM_000350.3:c.3329-68_3329-67insACT MANE Select	NP_000341.2:n.3329-68_3329-67insACT