Canonical Allele Identifier: CA2036189659

Gene: SCN8A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51745571_51745573delinsCAG , CM000674.2:g.51745571_51745573delinsCAG	GRCh38
NC_000012.11:g.52139355_52139357delinsCAG , CM000674.1:g.52139355_52139357delinsCAG	GRCh37
NC_000012.10:g.50425622_50425624delinsCAG	NCBI36
NG_021180.2:g.159336_159338delinsCAG
NG_021180.3:g.160614_160616delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.1999-332_1999-330delinsCAG MANE Plus Clinical	ENSP00000346534.4:n.1999-332_1999-330delinsCAG
ENST00000627620.5:c.1999-332_1999-330delinsCAG MANE Select	ENSP00000487583.2:n.1999-332_1999-330delinsCAG
ENST00000662684.1:c.1999-332_1999-330delinsCAG	ENSP00000499636.1:n.1999-332_1999-330delinsCAG
ENST00000668547.1:c.1999-332_1999-330delinsCAG	ENSP00000499691.1:n.1999-332_1999-330delinsCAG
ENST00000354534.10:c.1999-332_1999-330delinsCAG	ENSP00000346534.4:n.1999-332_1999-330delinsCAG
ENST00000355133.7:c.1999-332_1999-330delinsCAG	ENSP00000347255.4:n.1999-332_1999-330delinsCAG
ENST00000545061.5:c.1999-332_1999-330delinsCAG	ENSP00000440360.1:n.1999-332_1999-330delinsCAG
ENST00000550891.4:n.2127-332_2127-330delinsCAG
ENST00000551216.2:c.1582-332_1582-330delinsCAG	ENSP00000447567.2:n.1582-332_1582-330delinsCAG
ENST00000599343.5:c.2032-332_2032-330delinsCAG	ENSP00000476447.3:n.2032-332_2032-330delinsCAG
ENST00000627620.2:c.1999-332_1999-330delinsCAG	ENSP00000487583.1:n.1999-332_1999-330delinsCAG
NM_001177984.2:c.1999-332_1999-330delinsCAG	NP_001171455.1:n.1999-332_1999-330delinsCAG
NM_014191.3:c.1999-332_1999-330delinsCAG	NP_055006.1:n.1999-332_1999-330delinsCAG
XM_006719556.2:c.1999-332_1999-330delinsCAG	XP_006719619.1:n.1999-332_1999-330delinsCAG
XM_011538650.1:c.1999-332_1999-330delinsCAG	XP_011536952.1:n.1999-332_1999-330delinsCAG
XM_011538651.1:c.1999-332_1999-330delinsCAG	XP_011536953.1:n.1999-332_1999-330delinsCAG
NM_001330260.1:c.1999-332_1999-330delinsCAG	NP_001317189.1:n.1999-332_1999-330delinsCAG
XM_006719556.4:c.1999-332_1999-330delinsCAG	XP_006719619.1:n.1999-332_1999-330delinsCAG
XM_011538651.3:c.1999-332_1999-330delinsCAG	XP_011536953.1:n.1999-332_1999-330delinsCAG
XM_017019794.2:c.1999-332_1999-330delinsCAG	XP_016875283.1:n.1999-332_1999-330delinsCAG
XM_017019795.2:c.1999-332_1999-330delinsCAG	XP_016875284.1:n.1999-332_1999-330delinsCAG
XM_017019796.1:c.1999-332_1999-330delinsCAG	XP_016875285.1:n.1999-332_1999-330delinsCAG
NM_001330260.2:c.1999-332_1999-330delinsCAG MANE Select	NP_001317189.1:n.1999-332_1999-330delinsCAG
NM_001369788.1:c.1999-332_1999-330delinsCAG	NP_001356717.1:n.1999-332_1999-330delinsCAG
NM_014191.4:c.1999-332_1999-330delinsCAG MANE Plus Clinical	NP_055006.1:n.1999-332_1999-330delinsCAG
NM_001177984.3:c.1999-332_1999-330delinsCAG	NP_001171455.1:n.1999-332_1999-330delinsCAG