Canonical Allele Identifier: CA2744617555

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041579_94041580insGT , CM000663.2:g.94041579_94041580insGT	GRCh38
NC_000001.10:g.94507135_94507136insGT , CM000663.1:g.94507135_94507136insGT	GRCh37
NC_000001.9:g.94279723_94279724insGT	NCBI36
NG_009073.1:g.84570_84571insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-178_3329-177insAC MANE Select	ENSP00000359245.3:n.3329-178_3329-177insAC
ENST00000370225.3:c.3329-178_3329-177insAC	ENSP00000359245.3:n.3329-178_3329-177insAC
ENST00000536513.5:c.-64-1491_-64-1490insAC	ENSP00000439707.2:n.-64-1491_-64-1490insAC
NM_000350.2:c.3329-178_3329-177insAC	NP_000341.2:n.3329-178_3329-177insAC
NM_000350.3:c.3329-178_3329-177insAC MANE Select	NP_000341.2:n.3329-178_3329-177insAC