Canonical Allele Identifier: CA2036190042

Gene: SCN8A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51745885_51745888delinsCTTT , CM000674.2:g.51745885_51745888delinsCTTT	GRCh38
NC_000012.11:g.52139669_52139672delinsCTTT , CM000674.1:g.52139669_52139672delinsCTTT	GRCh37
NC_000012.10:g.50425936_50425939delinsCTTT	NCBI36
NG_021180.2:g.159650_159653delinsCTTT
NG_021180.3:g.160928_160931delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.1999-18_1999-15delinsCTTT MANE Plus Clinical	ENSP00000346534.4:n.1999-18_1999-15delinsCTTT
ENST00000627620.5:c.1999-18_1999-15delinsCTTT MANE Select	ENSP00000487583.2:n.1999-18_1999-15delinsCTTT
ENST00000662684.1:c.1999-18_1999-15delinsCTTT	ENSP00000499636.1:n.1999-18_1999-15delinsCTTT
ENST00000668547.1:c.1999-18_1999-15delinsCTTT	ENSP00000499691.1:n.1999-18_1999-15delinsCTTT
ENST00000354534.10:c.1999-18_1999-15delinsCTTT	ENSP00000346534.4:n.1999-18_1999-15delinsCTTT
ENST00000355133.7:c.1999-18_1999-15delinsCTTT	ENSP00000347255.4:n.1999-18_1999-15delinsCTTT
ENST00000545061.5:c.1999-18_1999-15delinsCTTT	ENSP00000440360.1:n.1999-18_1999-15delinsCTTT
ENST00000550891.4:n.2127-18_2127-15delinsCTTT
ENST00000551216.2:c.1582-18_1582-15delinsCTTT	ENSP00000447567.2:n.1582-18_1582-15delinsCTTT
ENST00000599343.5:c.2032-18_2032-15delinsCTTT	ENSP00000476447.3:n.2032-18_2032-15delinsCTTT
ENST00000627620.2:c.1999-18_1999-15delinsCTTT	ENSP00000487583.1:n.1999-18_1999-15delinsCTTT
NM_001177984.2:c.1999-18_1999-15delinsCTTT	NP_001171455.1:n.1999-18_1999-15delinsCTTT
NM_014191.3:c.1999-18_1999-15delinsCTTT	NP_055006.1:n.1999-18_1999-15delinsCTTT
XM_006719556.2:c.1999-18_1999-15delinsCTTT	XP_006719619.1:n.1999-18_1999-15delinsCTTT
XM_011538650.1:c.1999-18_1999-15delinsCTTT	XP_011536952.1:n.1999-18_1999-15delinsCTTT
XM_011538651.1:c.1999-18_1999-15delinsCTTT	XP_011536953.1:n.1999-18_1999-15delinsCTTT
NM_001330260.1:c.1999-18_1999-15delinsCTTT	NP_001317189.1:n.1999-18_1999-15delinsCTTT
XM_006719556.4:c.1999-18_1999-15delinsCTTT	XP_006719619.1:n.1999-18_1999-15delinsCTTT
XM_011538651.3:c.1999-18_1999-15delinsCTTT	XP_011536953.1:n.1999-18_1999-15delinsCTTT
XM_017019794.2:c.1999-18_1999-15delinsCTTT	XP_016875283.1:n.1999-18_1999-15delinsCTTT
XM_017019795.2:c.1999-18_1999-15delinsCTTT	XP_016875284.1:n.1999-18_1999-15delinsCTTT
XM_017019796.1:c.1999-18_1999-15delinsCTTT	XP_016875285.1:n.1999-18_1999-15delinsCTTT
NM_001330260.2:c.1999-18_1999-15delinsCTTT MANE Select	NP_001317189.1:n.1999-18_1999-15delinsCTTT
NM_001369788.1:c.1999-18_1999-15delinsCTTT	NP_001356717.1:n.1999-18_1999-15delinsCTTT
NM_014191.4:c.1999-18_1999-15delinsCTTT MANE Plus Clinical	NP_055006.1:n.1999-18_1999-15delinsCTTT
NM_001177984.3:c.1999-18_1999-15delinsCTTT	NP_001171455.1:n.1999-18_1999-15delinsCTTT