Canonical Allele Identifier: CA2744617491

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041511_94041512insGT , CM000663.2:g.94041511_94041512insGT	GRCh38
NC_000001.10:g.94507067_94507068insGT , CM000663.1:g.94507067_94507068insGT	GRCh37
NC_000001.9:g.94279655_94279656insGT	NCBI36
NG_009073.1:g.84638_84639insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-110_3329-109insAC MANE Select	ENSP00000359245.3:n.3329-110_3329-109insAC
ENST00000370225.3:c.3329-110_3329-109insAC	ENSP00000359245.3:n.3329-110_3329-109insAC
ENST00000536513.5:c.-64-1423_-64-1422insAC	ENSP00000439707.2:n.-64-1423_-64-1422insAC
NM_000350.2:c.3329-110_3329-109insAC	NP_000341.2:n.3329-110_3329-109insAC
NM_000350.3:c.3329-110_3329-109insAC MANE Select	NP_000341.2:n.3329-110_3329-109insAC