Canonical Allele Identifier: CA2795967147

Gene: SCN8A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51807405dup , CM000674.2:g.51807405dup	GRCh38
NC_000012.11:g.52201189dup , CM000674.1:g.52201189dup	GRCh37
NC_000012.10:g.50487456dup	NCBI36
NG_021180.2:g.221170dup
NG_021180.3:g.222448dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.5919dup MANE Plus Clinical	ENSP00000346534.4:p.Glu1974ArgfsTer24
ENST00000627620.5:c.5919dup MANE Select	ENSP00000487583.2:p.Glu1974ArgfsTer24
ENST00000662684.1:c.5919dup	ENSP00000499636.1:p.Glu1974ArgfsTer24
ENST00000668547.1:c.5796dup	ENSP00000499691.1:p.Glu1933ArgfsTer24
ENST00000354534.10:c.5919dup	ENSP00000346534.4:p.Glu1974ArgfsTer24
ENST00000355133.7:c.5796dup	ENSP00000347255.4:p.Glu1933ArgfsTer?
ENST00000545061.5:c.5796dup	ENSP00000440360.1:p.Glu1933ArgfsTer24
ENST00000599343.5:c.5952dup	ENSP00000476447.3:p.Glu1985ArgfsTer?
ENST00000627620.2:c.5919dup	ENSP00000487583.1:p.Glu1974ArgfsTer?
NM_001177984.2:c.5796dup	NP_001171455.1:p.Glu1933ArgfsTer24
NM_014191.3:c.5919dup	NP_055006.1:p.Glu1974ArgfsTer24
XM_006719556.2:c.5919dup	XP_006719619.1:p.Glu1974ArgfsTer24
XM_011538650.1:c.5919dup	XP_011536952.1:p.Glu1974ArgfsTer24
XM_011538651.1:c.5919dup	XP_011536953.1:p.Glu1974ArgfsTer24
NM_001330260.1:c.5919dup	NP_001317189.1:p.Glu1974ArgfsTer24
XM_006719556.4:c.5919dup	XP_006719619.1:p.Glu1974ArgfsTer24
XM_011538651.3:c.5919dup	XP_011536953.1:p.Glu1974ArgfsTer24
XM_017019794.2:c.5919dup	XP_016875283.1:p.Glu1974ArgfsTer24
XM_017019795.2:c.5796dup	XP_016875284.1:p.Glu1933ArgfsTer24
NM_001330260.2:c.5919dup MANE Select	NP_001317189.1:p.Glu1974ArgfsTer24
NM_001369788.1:c.5796dup	NP_001356717.1:p.Glu1933ArgfsTer24
NM_014191.4:c.5919dup MANE Plus Clinical	NP_055006.1:p.Glu1974ArgfsTer24
NM_001177984.3:c.5796dup	NP_001171455.1:p.Glu1933ArgfsTer24