Canonical Allele Identifier: CA2744614519

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94011418_94011419insA , CM000663.2:g.94011418_94011419insA	GRCh38
NC_000001.10:g.94476974_94476975insA , CM000663.1:g.94476974_94476975insA	GRCh37
NC_000001.9:g.94249562_94249563insA	NCBI36
NG_009073.1:g.114731_114732insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5461-34_5461-33insT MANE Select	ENSP00000359245.3:n.5461-34_5461-33insT
ENST00000370225.3:c.5461-34_5461-33insT	ENSP00000359245.3:n.5461-34_5461-33insT
ENST00000536513.5:c.1837-34_1837-33insT	ENSP00000439707.2:n.1837-34_1837-33insT
NM_000350.2:c.5461-34_5461-33insT	NP_000341.2:n.5461-34_5461-33insT
NM_000350.3:c.5461-34_5461-33insT MANE Select	NP_000341.2:n.5461-34_5461-33insT