Canonical Allele Identifier: CA2036195425

Gene: SCN8A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51807455_51807457delinsCAG , CM000674.2:g.51807455_51807457delinsCAG	GRCh38
NC_000012.11:g.52201239_52201241delinsCAG , CM000674.1:g.52201239_52201241delinsCAG	GRCh37
NC_000012.10:g.50487506_50487508delinsCAG	NCBI36
NG_021180.2:g.221220_221222delinsCAG
NG_021180.3:g.222498_222500delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.*26_*28delinsCAG MANE Plus Clinical	ENSP00000346534.4:n.*26_*28delinsCAG
ENST00000627620.5:c.*26_*28delinsCAG MANE Select	ENSP00000487583.2:n.*26_*28delinsCAG
ENST00000662684.1:c.*26_*28delinsCAG	ENSP00000499636.1:n.*26_*28delinsCAG
ENST00000668547.1:c.*26_*28delinsCAG	ENSP00000499691.1:n.*26_*28delinsCAG
ENST00000354534.10:c.*26_*28delinsCAG	ENSP00000346534.4:n.*26_*28delinsCAG
ENST00000545061.5:c.*26_*28delinsCAG	ENSP00000440360.1:n.*26_*28delinsCAG
NM_001177984.2:c.*26_*28delinsCAG	NP_001171455.1:n.*26_*28delinsCAG
NM_014191.3:c.*26_*28delinsCAG	NP_055006.1:n.*26_*28delinsCAG
XM_006719556.2:c.*26_*28delinsCAG	XP_006719619.1:n.*26_*28delinsCAG
XM_011538650.1:c.*26_*28delinsCAG	XP_011536952.1:n.*26_*28delinsCAG
XM_011538651.1:c.*26_*28delinsCAG	XP_011536953.1:n.*26_*28delinsCAG
NM_001330260.1:c.*26_*28delinsCAG	NP_001317189.1:n.*26_*28delinsCAG
XM_006719556.4:c.*26_*28delinsCAG	XP_006719619.1:n.*26_*28delinsCAG
XM_011538651.3:c.*26_*28delinsCAG	XP_011536953.1:n.*26_*28delinsCAG
XM_017019794.2:c.*26_*28delinsCAG	XP_016875283.1:n.*26_*28delinsCAG
XM_017019795.2:c.*26_*28delinsCAG	XP_016875284.1:n.*26_*28delinsCAG
NM_001330260.2:c.*26_*28delinsCAG MANE Select	NP_001317189.1:n.*26_*28delinsCAG
NM_001369788.1:c.*26_*28delinsCAG	NP_001356717.1:n.*26_*28delinsCAG
NM_014191.4:c.*26_*28delinsCAG MANE Plus Clinical	NP_055006.1:n.*26_*28delinsCAG
NM_001177984.3:c.*26_*28delinsCAG	NP_001171455.1:n.*26_*28delinsCAG