Canonical Allele Identifier: CA2036188809

Gene: SCN8A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51769382_51769384delinsCAG , CM000674.2:g.51769382_51769384delinsCAG	GRCh38
NC_000012.11:g.52163166_52163168delinsCAG , CM000674.1:g.52163166_52163168delinsCAG	GRCh37
NC_000012.10:g.50449433_50449435delinsCAG	NCBI36
NG_021180.2:g.183147_183149delinsCAG
NG_021180.3:g.184425_184427delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.3372+47_3372+49delinsCAG MANE Plus Clinical	ENSP00000346534.4:n.3372+47_3372+49delinsCAG
ENST00000548086.3:c.1219+47_1219+49delinsCAG
ENST00000627620.5:c.3372+47_3372+49delinsCAG MANE Select	ENSP00000487583.2:n.3372+47_3372+49delinsCAG
ENST00000636945.2:c.1436+47_1436+49delinsCAG
ENST00000662684.1:c.3372+47_3372+49delinsCAG	ENSP00000499636.1:n.3372+47_3372+49delinsCAG
ENST00000668547.1:c.3372+47_3372+49delinsCAG	ENSP00000499691.1:n.3372+47_3372+49delinsCAG
ENST00000354534.10:c.3372+47_3372+49delinsCAG	ENSP00000346534.4:n.3372+47_3372+49delinsCAG
ENST00000355133.7:c.3372+47_3372+49delinsCAG	ENSP00000347255.4:n.3372+47_3372+49delinsCAG
ENST00000545061.5:c.3372+47_3372+49delinsCAG	ENSP00000440360.1:n.3372+47_3372+49delinsCAG
ENST00000599343.5:c.3405+47_3405+49delinsCAG	ENSP00000476447.3:n.3405+47_3405+49delinsCAG
ENST00000627620.2:c.3372+47_3372+49delinsCAG	ENSP00000487583.1:n.3372+47_3372+49delinsCAG
ENST00000627665.1:n.364+47_364+49delinsCAG
NM_001177984.2:c.3372+47_3372+49delinsCAG	NP_001171455.1:n.3372+47_3372+49delinsCAG
NM_014191.3:c.3372+47_3372+49delinsCAG	NP_055006.1:n.3372+47_3372+49delinsCAG
XM_006719556.2:c.3372+47_3372+49delinsCAG	XP_006719619.1:n.3372+47_3372+49delinsCAG
XM_011538650.1:c.3372+47_3372+49delinsCAG	XP_011536952.1:n.3372+47_3372+49delinsCAG
XM_011538651.1:c.3372+47_3372+49delinsCAG	XP_011536953.1:n.3372+47_3372+49delinsCAG
NM_001330260.1:c.3372+47_3372+49delinsCAG	NP_001317189.1:n.3372+47_3372+49delinsCAG
XM_006719556.4:c.3372+47_3372+49delinsCAG	XP_006719619.1:n.3372+47_3372+49delinsCAG
XM_011538651.3:c.3372+47_3372+49delinsCAG	XP_011536953.1:n.3372+47_3372+49delinsCAG
XM_017019794.2:c.3372+47_3372+49delinsCAG	XP_016875283.1:n.3372+47_3372+49delinsCAG
XM_017019795.2:c.3372+47_3372+49delinsCAG	XP_016875284.1:n.3372+47_3372+49delinsCAG
XM_017019796.1:c.3372+47_3372+49delinsCAG	XP_016875285.1:n.3372+47_3372+49delinsCAG
NM_001330260.2:c.3372+47_3372+49delinsCAG MANE Select	NP_001317189.1:n.3372+47_3372+49delinsCAG
NM_001369788.1:c.3372+47_3372+49delinsCAG	NP_001356717.1:n.3372+47_3372+49delinsCAG
NM_014191.4:c.3372+47_3372+49delinsCAG MANE Plus Clinical	NP_055006.1:n.3372+47_3372+49delinsCAG
NM_001177984.3:c.3372+47_3372+49delinsCAG	NP_001171455.1:n.3372+47_3372+49delinsCAG