Canonical Allele Identifier: CA2575160132

Gene: SCN8A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51762703dup , CM000674.2:g.51762703dup	GRCh38
NC_000012.11:g.52156487dup , CM000674.1:g.52156487dup	GRCh37
NC_000012.10:g.50442754dup	NCBI36
NG_021180.2:g.176468dup
NG_021180.3:g.177746dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.2544+27dup MANE Plus Clinical	ENSP00000346534.4:n.2544+27dup
ENST00000548086.3:c.391+27dup
ENST00000627620.5:c.2544+27dup MANE Select	ENSP00000487583.2:n.2544+27dup
ENST00000636945.2:c.548+27dup
ENST00000662684.1:c.2544+27dup	ENSP00000499636.1:n.2544+27dup
ENST00000668547.1:c.2544+27dup	ENSP00000499691.1:n.2544+27dup
ENST00000354534.10:c.2544+27dup	ENSP00000346534.4:n.2544+27dup
ENST00000355133.7:c.2544+27dup	ENSP00000347255.4:n.2544+27dup
ENST00000545061.5:c.2544+27dup	ENSP00000440360.1:n.2544+27dup
ENST00000550891.4:n.2672+27dup
ENST00000599343.5:c.2577+27dup	ENSP00000476447.3:n.2577+27dup
ENST00000627620.2:c.2544+27dup	ENSP00000487583.1:n.2544+27dup
NM_001177984.2:c.2544+27dup	NP_001171455.1:n.2544+27dup
NM_014191.3:c.2544+27dup	NP_055006.1:n.2544+27dup
XM_006719556.2:c.2544+27dup	XP_006719619.1:n.2544+27dup
XM_011538650.1:c.2544+27dup	XP_011536952.1:n.2544+27dup
XM_011538651.1:c.2544+27dup	XP_011536953.1:n.2544+27dup
NM_001330260.1:c.2544+27dup	NP_001317189.1:n.2544+27dup
XM_006719556.4:c.2544+27dup	XP_006719619.1:n.2544+27dup
XM_011538651.3:c.2544+27dup	XP_011536953.1:n.2544+27dup
XM_017019794.2:c.2544+27dup	XP_016875283.1:n.2544+27dup
XM_017019795.2:c.2544+27dup	XP_016875284.1:n.2544+27dup
XM_017019796.1:c.2544+27dup	XP_016875285.1:n.2544+27dup
NM_001330260.2:c.2544+27dup MANE Select	NP_001317189.1:n.2544+27dup
NM_001369788.1:c.2544+27dup	NP_001356717.1:n.2544+27dup
NM_014191.4:c.2544+27dup MANE Plus Clinical	NP_055006.1:n.2544+27dup
NM_001177984.3:c.2544+27dup	NP_001171455.1:n.2544+27dup