Canonical Allele Identifier: CA689783942
Gene: SCN8A HGNC NCBI

Linked Data

dbSNP Id: rs1435509676
MyVariant Identifiers: chr12:g.52201156del (hg19) chr12:g.51807372del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51807373del , CM000674.2:g.51807373del GRCh38
NC_000012.11:g.52201157del , CM000674.1:g.52201157del GRCh37
NC_000012.10:g.50487424del NCBI36
NG_021180.2:g.221138del
NG_021180.3:g.222416del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5887del MANE Plus Clinical ENSP00000346534.4:p.Glu1963LysfsTer30
ENST00000627620.5:c.5887del MANE Select ENSP00000487583.2:p.Glu1963LysfsTer30
ENST00000662684.1:c.5887del ENSP00000499636.1:p.Glu1963LysfsTer30
ENST00000668547.1:c.5764del ENSP00000499691.1:p.Glu1922LysfsTer30
ENST00000354534.10:c.5887del ENSP00000346534.4:p.Glu1963LysfsTer30
ENST00000355133.7:c.5764del ENSP00000347255.4:p.Glu1922LysfsTer?
ENST00000545061.5:c.5764del ENSP00000440360.1:p.Glu1922LysfsTer30
ENST00000599343.5:c.5920del ENSP00000476447.3:p.Glu1974LysfsTer?
ENST00000627620.2:c.5887del ENSP00000487583.1:p.Glu1963LysfsTer?
NM_001177984.2:c.5764del NP_001171455.1:p.Glu1922LysfsTer30
NM_014191.3:c.5887del NP_055006.1:p.Glu1963LysfsTer30
XM_006719556.2:c.5887del XP_006719619.1:p.Glu1963LysfsTer30
XM_011538650.1:c.5887del XP_011536952.1:p.Glu1963LysfsTer30
XM_011538651.1:c.5887del XP_011536953.1:p.Glu1963LysfsTer30
NM_001330260.1:c.5887del NP_001317189.1:p.Glu1963LysfsTer30
XM_006719556.4:c.5887del XP_006719619.1:p.Glu1963LysfsTer30
XM_011538651.3:c.5887del XP_011536953.1:p.Glu1963LysfsTer30
XM_017019794.2:c.5887del XP_016875283.1:p.Glu1963LysfsTer30
XM_017019795.2:c.5764del XP_016875284.1:p.Glu1922LysfsTer30
NM_001330260.2:c.5887del MANE Select NP_001317189.1:p.Glu1963LysfsTer30
NM_001369788.1:c.5764del NP_001356717.1:p.Glu1922LysfsTer30
NM_014191.4:c.5887del MANE Plus Clinical NP_055006.1:p.Glu1963LysfsTer30
NM_001177984.3:c.5764del NP_001171455.1:p.Glu1922LysfsTer30
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