Canonical Allele Identifier: CA2618840885

Gene: SCN8A

Linked Data

• gnomAD v4: 12-51769374-A-ACACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51769374_51769375insCACAG , CM000674.2:g.51769374_51769375insCACAG	GRCh38
NC_000012.11:g.52163158_52163159insCACAG , CM000674.1:g.52163158_52163159insCACAG	GRCh37
NC_000012.10:g.50449425_50449426insCACAG	NCBI36
NG_021180.2:g.183139_183140insCACAG
NG_021180.3:g.184417_184418insCACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.3372+39_3372+40insCACAG MANE Plus Clinical	ENSP00000346534.4:n.3372+39_3372+40insCACAG
ENST00000548086.3:c.1219+39_1219+40insCACAG
ENST00000627620.5:c.3372+39_3372+40insCACAG MANE Select	ENSP00000487583.2:n.3372+39_3372+40insCACAG
ENST00000636945.2:c.1436+39_1436+40insCACAG
ENST00000662684.1:c.3372+39_3372+40insCACAG	ENSP00000499636.1:n.3372+39_3372+40insCACAG
ENST00000668547.1:c.3372+39_3372+40insCACAG	ENSP00000499691.1:n.3372+39_3372+40insCACAG
ENST00000354534.10:c.3372+39_3372+40insCACAG	ENSP00000346534.4:n.3372+39_3372+40insCACAG
ENST00000355133.7:c.3372+39_3372+40insCACAG	ENSP00000347255.4:n.3372+39_3372+40insCACAG
ENST00000545061.5:c.3372+39_3372+40insCACAG	ENSP00000440360.1:n.3372+39_3372+40insCACAG
ENST00000599343.5:c.3405+39_3405+40insCACAG	ENSP00000476447.3:n.3405+39_3405+40insCACAG
ENST00000627620.2:c.3372+39_3372+40insCACAG	ENSP00000487583.1:n.3372+39_3372+40insCACAG
ENST00000627665.1:n.364+39_364+40insCACAG
NM_001177984.2:c.3372+39_3372+40insCACAG	NP_001171455.1:n.3372+39_3372+40insCACAG
NM_014191.3:c.3372+39_3372+40insCACAG	NP_055006.1:n.3372+39_3372+40insCACAG
XM_006719556.2:c.3372+39_3372+40insCACAG	XP_006719619.1:n.3372+39_3372+40insCACAG
XM_011538650.1:c.3372+39_3372+40insCACAG	XP_011536952.1:n.3372+39_3372+40insCACAG
XM_011538651.1:c.3372+39_3372+40insCACAG	XP_011536953.1:n.3372+39_3372+40insCACAG
NM_001330260.1:c.3372+39_3372+40insCACAG	NP_001317189.1:n.3372+39_3372+40insCACAG
XM_006719556.4:c.3372+39_3372+40insCACAG	XP_006719619.1:n.3372+39_3372+40insCACAG
XM_011538651.3:c.3372+39_3372+40insCACAG	XP_011536953.1:n.3372+39_3372+40insCACAG
XM_017019794.2:c.3372+39_3372+40insCACAG	XP_016875283.1:n.3372+39_3372+40insCACAG
XM_017019795.2:c.3372+39_3372+40insCACAG	XP_016875284.1:n.3372+39_3372+40insCACAG
XM_017019796.1:c.3372+39_3372+40insCACAG	XP_016875285.1:n.3372+39_3372+40insCACAG
NM_001330260.2:c.3372+39_3372+40insCACAG MANE Select	NP_001317189.1:n.3372+39_3372+40insCACAG
NM_001369788.1:c.3372+39_3372+40insCACAG	NP_001356717.1:n.3372+39_3372+40insCACAG
NM_014191.4:c.3372+39_3372+40insCACAG MANE Plus Clinical	NP_055006.1:n.3372+39_3372+40insCACAG
NM_001177984.3:c.3372+39_3372+40insCACAG	NP_001171455.1:n.3372+39_3372+40insCACAG