Canonical Allele Identifier: CA2744617421

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041491_94041492insAC , CM000663.2:g.94041491_94041492insAC	GRCh38
NC_000001.10:g.94507047_94507048insAC , CM000663.1:g.94507047_94507048insAC	GRCh37
NC_000001.9:g.94279635_94279636insAC	NCBI36
NG_009073.1:g.84658_84659insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-90_3329-89insGT MANE Select	ENSP00000359245.3:n.3329-90_3329-89insGT
ENST00000370225.3:c.3329-90_3329-89insGT	ENSP00000359245.3:n.3329-90_3329-89insGT
ENST00000536513.5:c.-64-1403_-64-1402insGT	ENSP00000439707.2:n.-64-1403_-64-1402insGT
NM_000350.2:c.3329-90_3329-89insGT	NP_000341.2:n.3329-90_3329-89insGT
NM_000350.3:c.3329-90_3329-89insGT MANE Select	NP_000341.2:n.3329-90_3329-89insGT