Canonical Allele Identifier: CA2744617490

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041512_94041513insGC , CM000663.2:g.94041512_94041513insGC	GRCh38
NC_000001.10:g.94507068_94507069insGC , CM000663.1:g.94507068_94507069insGC	GRCh37
NC_000001.9:g.94279656_94279657insGC	NCBI36
NG_009073.1:g.84638_84639insCG

Transcript Alleles

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