Canonical Allele Identifier: CA2744617328

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041470_94041471insTC , CM000663.2:g.94041470_94041471insTC	GRCh38
NC_000001.10:g.94507026_94507027insTC , CM000663.1:g.94507026_94507027insTC	GRCh37
NC_000001.9:g.94279614_94279615insTC	NCBI36
NG_009073.1:g.84680_84681insAG

Transcript Alleles

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