Canonical Allele Identifier: CA2036180415

Gene: SCN8A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51762617_51762621delinsTTAAT , CM000674.2:g.51762617_51762621delinsTTAAT	GRCh38
NC_000012.11:g.52156401_52156405delinsTTAAT , CM000674.1:g.52156401_52156405delinsTTAAT	GRCh37
NC_000012.10:g.50442668_50442672delinsTTAAT	NCBI36
NG_021180.2:g.176382_176386delinsTTAAT
NG_021180.3:g.177660_177664delinsTTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.2485_2489delinsTTAAT MANE Plus Clinical	ENSP00000346534.4:p.Leu829=
ENST00000548086.3:c.332_336delinsTTAAT
ENST00000627620.5:c.2485_2489delinsTTAAT MANE Select	ENSP00000487583.2:p.Leu829=
ENST00000636945.2:c.489_493delinsTTAAT
ENST00000662684.1:c.2485_2489delinsTTAAT	ENSP00000499636.1:p.Leu829=
ENST00000668547.1:c.2485_2489delinsTTAAT	ENSP00000499691.1:p.Leu829=
ENST00000354534.10:c.2485_2489delinsTTAAT	ENSP00000346534.4:p.Leu829=
ENST00000355133.7:c.2485_2489delinsTTAAT	ENSP00000347255.4:p.Leu829=
ENST00000545061.5:c.2485_2489delinsTTAAT	ENSP00000440360.1:p.Leu829=
ENST00000550891.4:n.2613_2617delinsTTAAT
ENST00000599343.5:c.2518_2522delinsTTAAT	ENSP00000476447.3:p.Leu840=
ENST00000627620.2:c.2485_2489delinsTTAAT	ENSP00000487583.1:p.Leu829=
NM_001177984.2:c.2485_2489delinsTTAAT	NP_001171455.1:p.Leu829=
NM_014191.3:c.2485_2489delinsTTAAT	NP_055006.1:p.Leu829=
XM_006719556.2:c.2485_2489delinsTTAAT	XP_006719619.1:p.Leu829=
XM_011538650.1:c.2485_2489delinsTTAAT	XP_011536952.1:p.Leu829=
XM_011538651.1:c.2485_2489delinsTTAAT	XP_011536953.1:p.Leu829=
NM_001330260.1:c.2485_2489delinsTTAAT	NP_001317189.1:p.Leu829=
XM_006719556.4:c.2485_2489delinsTTAAT	XP_006719619.1:p.Leu829=
XM_011538651.3:c.2485_2489delinsTTAAT	XP_011536953.1:p.Leu829=
XM_017019794.2:c.2485_2489delinsTTAAT	XP_016875283.1:p.Leu829=
XM_017019795.2:c.2485_2489delinsTTAAT	XP_016875284.1:p.Leu829=
XM_017019796.1:c.2485_2489delinsTTAAT	XP_016875285.1:p.Leu829=
NM_001330260.2:c.2485_2489delinsTTAAT MANE Select	NP_001317189.1:p.Leu829=
NM_001369788.1:c.2485_2489delinsTTAAT	NP_001356717.1:p.Leu829=
NM_014191.4:c.2485_2489delinsTTAAT MANE Plus Clinical	NP_055006.1:p.Leu829=
NM_001177984.3:c.2485_2489delinsTTAAT	NP_001171455.1:p.Leu829=