Canonical Allele Identifier: CA2695216871

Gene: SCN8A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51806359_51806367dup , CM000674.2:g.51806359_51806367dup	GRCh38
NC_000012.11:g.52200143_52200151dup , CM000674.1:g.52200143_52200151dup	GRCh37
NC_000012.10:g.50486410_50486418dup	NCBI36
NG_021180.2:g.220124_220132dup
NG_021180.3:g.221402_221410dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.4873_4881dup MANE Plus Clinical	ENSP00000346534.4:p.Ile1627_Leu1628insGlyArgIle
ENST00000627620.5:c.4873_4881dup MANE Select	ENSP00000487583.2:p.Ile1627_Leu1628insGlyArgIle
ENST00000636945.2:c.2937_2945dup
ENST00000662684.1:c.4873_4881dup	ENSP00000499636.1:p.Ile1627_Leu1628insGlyArgIle
ENST00000668547.1:c.4750_4758dup	ENSP00000499691.1:p.Ile1586_Leu1587insGlyArgIle
ENST00000354534.10:c.4873_4881dup	ENSP00000346534.4:p.Ile1627_Leu1628insGlyArgIle
ENST00000355133.7:c.4750_4758dup	ENSP00000347255.4:p.Ile1586_Leu1587insGlyArgIle
ENST00000545061.5:c.4750_4758dup	ENSP00000440360.1:p.Ile1586_Leu1587insGlyArgIle
ENST00000599343.5:c.4906_4914dup	ENSP00000476447.3:p.Ile1638_Leu1639insGlyArgIle
ENST00000627620.2:c.4873_4881dup	ENSP00000487583.1:p.Ile1627_Leu1628insGlyArgIle
NM_001177984.2:c.4750_4758dup	NP_001171455.1:p.Ile1586_Leu1587insGlyArgIle
NM_014191.3:c.4873_4881dup	NP_055006.1:p.Ile1627_Leu1628insGlyArgIle
XM_006719556.2:c.4873_4881dup	XP_006719619.1:p.Ile1627_Leu1628insGlyArgIle
XM_011538650.1:c.4873_4881dup	XP_011536952.1:p.Ile1627_Leu1628insGlyArgIle
XM_011538651.1:c.4873_4881dup	XP_011536953.1:p.Ile1627_Leu1628insGlyArgIle
NM_001330260.1:c.4873_4881dup	NP_001317189.1:p.Ile1627_Leu1628insGlyArgIle
XM_006719556.4:c.4873_4881dup	XP_006719619.1:p.Ile1627_Leu1628insGlyArgIle
XM_011538651.3:c.4873_4881dup	XP_011536953.1:p.Ile1627_Leu1628insGlyArgIle
XM_017019794.2:c.4873_4881dup	XP_016875283.1:p.Ile1627_Leu1628insGlyArgIle
XM_017019795.2:c.4750_4758dup	XP_016875284.1:p.Ile1586_Leu1587insGlyArgIle
NM_001330260.2:c.4873_4881dup MANE Select	NP_001317189.1:p.Ile1627_Leu1628insGlyArgIle
NM_001369788.1:c.4750_4758dup	NP_001356717.1:p.Ile1586_Leu1587insGlyArgIle
NM_014191.4:c.4873_4881dup MANE Plus Clinical	NP_055006.1:p.Ile1627_Leu1628insGlyArgIle
NM_001177984.3:c.4750_4758dup	NP_001171455.1:p.Ile1586_Leu1587insGlyArgIle