Canonical Allele Identifier: CA2744618309
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047078_94047079insACAG , CM000663.2:g.94047078_94047079insACAG GRCh38
NC_000001.10:g.94512634_94512635insACAG , CM000663.1:g.94512634_94512635insACAG GRCh37
NC_000001.9:g.94285222_94285223insACAG NCBI36
NG_009073.1:g.79071_79072insCTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2758_2759insCTGT MANE Select ENSP00000359245.3:p.Arg920ProfsTer3
ENST00000649773.1:c.2536_2537insCTGT ENSP00000496882.1:p.Arg846ProfsTer3
ENST00000370225.3:c.2758_2759insCTGT ENSP00000359245.3:p.Arg920ProfsTer3
ENST00000536513.5:c.-64-6990_-64-6989insCTGT ENSP00000439707.2:n.-64-6990_-64-6989insCTGT
NM_000350.2:c.2758_2759insCTGT NP_000341.2:p.Arg920ProfsTer3
NM_000350.3:c.2758_2759insCTGT MANE Select NP_000341.2:p.Arg920ProfsTer3
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