Canonical Allele Identifier: CA2744614014
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001727_94001729del , CM000663.2:g.94001727_94001729del GRCh38
NC_000001.10:g.94467283_94467285del , CM000663.1:g.94467283_94467285del GRCh37
NC_000001.9:g.94239871_94239873del NCBI36
NG_009073.1:g.124423_124425del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6282+131_6282+133del MANE Select ENSP00000359245.3:n.6282+131_6282+133del
ENST00000370225.3:c.6282+131_6282+133del ENSP00000359245.3:n.6282+131_6282+133del
ENST00000465352.1:n.829_831del
ENST00000536513.5:c.2658+131_2658+133del ENSP00000439707.2:n.2658+131_2658+133del
NM_000350.2:c.6282+131_6282+133del NP_000341.2:n.6282+131_6282+133del
NM_000350.3:c.6282+131_6282+133del MANE Select NP_000341.2:n.6282+131_6282+133del
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