Canonical Allele Identifier: CA2036190197

Gene: SCN8A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51745923_51745926delinsTAAG , CM000674.2:g.51745923_51745926delinsTAAG	GRCh38
NC_000012.11:g.52139707_52139710delinsTAAG , CM000674.1:g.52139707_52139710delinsTAAG	GRCh37
NC_000012.10:g.50425974_50425977delinsTAAG	NCBI36
NG_021180.2:g.159688_159691delinsTAAG
NG_021180.3:g.160966_160969delinsTAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.2019_2022delinsTAAG MANE Plus Clinical	ENSP00000346534.4:p.Ile673=
ENST00000627620.5:c.2019_2022delinsTAAG MANE Select	ENSP00000487583.2:p.Ile673=
ENST00000636945.2:c.23_26delinsTAAG
ENST00000662684.1:c.2019_2022delinsTAAG	ENSP00000499636.1:p.Ile673=
ENST00000668547.1:c.2019_2022delinsTAAG	ENSP00000499691.1:p.Ile673=
ENST00000354534.10:c.2019_2022delinsTAAG	ENSP00000346534.4:p.Ile673=
ENST00000355133.7:c.2019_2022delinsTAAG	ENSP00000347255.4:p.Ile673=
ENST00000545061.5:c.2019_2022delinsTAAG	ENSP00000440360.1:p.Ile673=
ENST00000550891.4:n.2147_2150delinsTAAG
ENST00000551216.2:c.1602_1605delinsTAAG	ENSP00000447567.2:p.Ile534=
ENST00000599343.5:c.2052_2055delinsTAAG	ENSP00000476447.3:p.Ile684=
ENST00000627620.2:c.2019_2022delinsTAAG	ENSP00000487583.1:p.Ile673=
NM_001177984.2:c.2019_2022delinsTAAG	NP_001171455.1:p.Ile673=
NM_014191.3:c.2019_2022delinsTAAG	NP_055006.1:p.Ile673=
XM_006719556.2:c.2019_2022delinsTAAG	XP_006719619.1:p.Ile673=
XM_011538650.1:c.2019_2022delinsTAAG	XP_011536952.1:p.Ile673=
XM_011538651.1:c.2019_2022delinsTAAG	XP_011536953.1:p.Ile673=
NM_001330260.1:c.2019_2022delinsTAAG	NP_001317189.1:p.Ile673=
XM_006719556.4:c.2019_2022delinsTAAG	XP_006719619.1:p.Ile673=
XM_011538651.3:c.2019_2022delinsTAAG	XP_011536953.1:p.Ile673=
XM_017019794.2:c.2019_2022delinsTAAG	XP_016875283.1:p.Ile673=
XM_017019795.2:c.2019_2022delinsTAAG	XP_016875284.1:p.Ile673=
XM_017019796.1:c.2019_2022delinsTAAG	XP_016875285.1:p.Ile673=
NM_001330260.2:c.2019_2022delinsTAAG MANE Select	NP_001317189.1:p.Ile673=
NM_001369788.1:c.2019_2022delinsTAAG	NP_001356717.1:p.Ile673=
NM_014191.4:c.2019_2022delinsTAAG MANE Plus Clinical	NP_055006.1:p.Ile673=
NM_001177984.3:c.2019_2022delinsTAAG	NP_001171455.1:p.Ile673=