Canonical Allele Identifier: CA2744617545

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041545_94041546insC , CM000663.2:g.94041545_94041546insC	GRCh38
NC_000001.10:g.94507101_94507102insC , CM000663.1:g.94507101_94507102insC	GRCh37
NC_000001.9:g.94279689_94279690insC	NCBI36
NG_009073.1:g.84604_84605insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-144_3329-143insG MANE Select	ENSP00000359245.3:n.3329-144_3329-143insG
ENST00000370225.3:c.3329-144_3329-143insG	ENSP00000359245.3:n.3329-144_3329-143insG
ENST00000536513.5:c.-64-1457_-64-1456insG	ENSP00000439707.2:n.-64-1457_-64-1456insG
NM_000350.2:c.3329-144_3329-143insG	NP_000341.2:n.3329-144_3329-143insG
NM_000350.3:c.3329-144_3329-143insG MANE Select	NP_000341.2:n.3329-144_3329-143insG