Canonical Allele Identifier: CA915948395

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 645039
• ClinVar RCV Id: RCV000799054
• dbSNP Id: rs1592148206

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51762618_51762621delinsCCATTA , CM000674.2:g.51762618_51762621delinsCCATTA	GRCh38
NC_000012.11:g.52156402_52156405delinsCCATTA , CM000674.1:g.52156402_52156405delinsCCATTA	GRCh37
NC_000012.10:g.50442669_50442672delinsCCATTA	NCBI36
NG_021180.2:g.176383_176386delinsCCATTA
NG_021180.3:g.177661_177664delinsCCATTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.2486_2489delinsCCATTA MANE Plus Clinical	ENSP00000346534.4:p.Leu829SerfsTer5
ENST00000548086.3:c.333_336delinsCCATTA
ENST00000627620.5:c.2486_2489delinsCCATTA MANE Select	ENSP00000487583.2:p.Leu829SerfsTer5
ENST00000636945.2:c.490_493delinsCCATTA
ENST00000662684.1:c.2486_2489delinsCCATTA	ENSP00000499636.1:p.Leu829SerfsTer5
ENST00000668547.1:c.2486_2489delinsCCATTA	ENSP00000499691.1:p.Leu829SerfsTer5
ENST00000354534.10:c.2486_2489delinsCCATTA	ENSP00000346534.4:p.Leu829SerfsTer5
ENST00000355133.7:c.2486_2489delinsCCATTA	ENSP00000347255.4:p.Leu829SerfsTer5
ENST00000545061.5:c.2486_2489delinsCCATTA	ENSP00000440360.1:p.Leu829SerfsTer5
ENST00000550891.4:n.2614_2617delinsCCATTA
ENST00000599343.5:c.2519_2522delinsCCATTA	ENSP00000476447.3:p.Leu840SerfsTer5
ENST00000627620.2:c.2486_2489delinsCCATTA	ENSP00000487583.1:p.Leu829SerfsTer5
NM_001177984.2:c.2486_2489delinsCCATTA	NP_001171455.1:p.Leu829SerfsTer5
NM_014191.3:c.2486_2489delinsCCATTA	NP_055006.1:p.Leu829SerfsTer5
XM_006719556.2:c.2486_2489delinsCCATTA	XP_006719619.1:p.Leu829SerfsTer5
XM_011538650.1:c.2486_2489delinsCCATTA	XP_011536952.1:p.Leu829SerfsTer5
XM_011538651.1:c.2486_2489delinsCCATTA	XP_011536953.1:p.Leu829SerfsTer5
NM_001330260.1:c.2486_2489delinsCCATTA	NP_001317189.1:p.Leu829SerfsTer5
XM_006719556.4:c.2486_2489delinsCCATTA	XP_006719619.1:p.Leu829SerfsTer5
XM_011538651.3:c.2486_2489delinsCCATTA	XP_011536953.1:p.Leu829SerfsTer5
XM_017019794.2:c.2486_2489delinsCCATTA	XP_016875283.1:p.Leu829SerfsTer5
XM_017019795.2:c.2486_2489delinsCCATTA	XP_016875284.1:p.Leu829SerfsTer5
XM_017019796.1:c.2486_2489delinsCCATTA	XP_016875285.1:p.Leu829SerfsTer5
NM_001330260.2:c.2486_2489delinsCCATTA MANE Select	NP_001317189.1:p.Leu829SerfsTer5
NM_001369788.1:c.2486_2489delinsCCATTA	NP_001356717.1:p.Leu829SerfsTer5
NM_014191.4:c.2486_2489delinsCCATTA MANE Plus Clinical	NP_055006.1:p.Leu829SerfsTer5
NM_001177984.3:c.2486_2489delinsCCATTA	NP_001171455.1:p.Leu829SerfsTer5