Canonical Allele Identifier: CA1181420887
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043386_94043387delinsTC , CM000663.2:g.94043386_94043387delinsTC GRCh38
NC_000001.10:g.94508942_94508943delinsTC , CM000663.1:g.94508942_94508943delinsTC GRCh37
NC_000001.9:g.94281530_94281531delinsTC NCBI36
NG_009073.1:g.82763_82764delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3139_3140delinsGA MANE Select ENSP00000359245.3:p.Glu1047=
ENST00000370225.3:c.3139_3140delinsGA ENSP00000359245.3:p.Glu1047=
ENST00000536513.5:c.-64-3298_-64-3297delinsGA ENSP00000439707.2:n.-64-3298_-64-3297delinsGA
NM_000350.2:c.3139_3140delinsGA NP_000341.2:p.Glu1047=
NM_000350.3:c.3139_3140delinsGA MANE Select NP_000341.2:p.Glu1047=
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