Canonical Allele Identifier: CA1140725843
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041292_94041293delinsGG , CM000663.2:g.94041292_94041293delinsGG GRCh38
NC_000001.10:g.94506848_94506849delinsGG , CM000663.1:g.94506848_94506849delinsGG GRCh37
NC_000001.9:g.94279436_94279437delinsGG NCBI36
NG_009073.1:g.84857_84858delinsCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3438_3439delinsCC MANE Select ENSP00000359245.3:p.Phe1146=
ENST00000370225.3:c.3438_3439delinsCC ENSP00000359245.3:p.Phe1146=
ENST00000536513.5:c.-64-1204_-64-1203delinsCC ENSP00000439707.2:n.-64-1204_-64-1203delinsCC
NM_000350.2:c.3438_3439delinsCC NP_000341.2:p.Phe1146=
NM_000350.3:c.3438_3439delinsCC MANE Select NP_000341.2:p.Phe1146=
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