Canonical Allele Identifier: CA2744617552

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041563_94041564insCTC , CM000663.2:g.94041563_94041564insCTC	GRCh38
NC_000001.10:g.94507119_94507120insCTC , CM000663.1:g.94507119_94507120insCTC	GRCh37
NC_000001.9:g.94279707_94279708insCTC	NCBI36
NG_009073.1:g.84586_84587insGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-162_3329-161insGAG MANE Select	ENSP00000359245.3:n.3329-162_3329-161insGAG
ENST00000370225.3:c.3329-162_3329-161insGAG	ENSP00000359245.3:n.3329-162_3329-161insGAG
ENST00000536513.5:c.-64-1475_-64-1474insGAG	ENSP00000439707.2:n.-64-1475_-64-1474insGAG
NM_000350.2:c.3329-162_3329-161insGAG	NP_000341.2:n.3329-162_3329-161insGAG
NM_000350.3:c.3329-162_3329-161insGAG MANE Select	NP_000341.2:n.3329-162_3329-161insGAG