Canonical Allele Identifier: CA2586966890
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031032del , CM000663.2:g.94031032del GRCh38
NC_000001.10:g.94496588del , CM000663.1:g.94496588del GRCh37
NC_000001.9:g.94269176del NCBI36
NG_009073.1:g.95118del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4217del MANE Select ENSP00000359245.3:p.His1406ProfsTer30
ENST00000370225.3:c.4217del ENSP00000359245.3:p.His1406ProfsTer30
ENST00000536513.5:c.593del ENSP00000439707.2:p.His198ProfsTer30
NM_000350.2:c.4217del NP_000341.2:p.His1406ProfsTer30
NM_000350.3:c.4217del MANE Select NP_000341.2:p.His1406ProfsTer30
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