Canonical Allele Identifier: CA2580615196

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 2030320
• ClinVar RCV Id: RCV002881267

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51689101_51689102del , CM000674.2:g.51689101_51689102del	GRCh38
NC_000012.11:g.52082885_52082886del , CM000674.1:g.52082885_52082886del	GRCh37
NC_000012.10:g.50369152_50369153del	NCBI36
NG_021180.2:g.102866_102867del
NG_021180.3:g.104144_104145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703687.1:n.2725_2726del
ENST00000354534.11:c.706+252_706+253del MANE Plus Clinical	ENSP00000346534.4:n.706+252_706+253del
ENST00000627620.5:c.706+5_706+6del MANE Select	ENSP00000487583.2:n.706+5_706+6del
ENST00000637709.2:c.*226_*227del	ENSP00000490470.1:n.*226_*227del
ENST00000638820.1:c.706+5_706+6del	ENSP00000492157.1:n.706+5_706+6del
ENST00000662684.1:c.706+5_706+6del	ENSP00000499636.1:n.706+5_706+6del
ENST00000667214.1:c.706+252_706+253del	ENSP00000499724.1:n.706+252_706+253del
ENST00000668547.1:c.706+5_706+6del	ENSP00000499691.1:n.706+5_706+6del
ENST00000354534.10:c.706+252_706+253del	ENSP00000346534.4:n.706+252_706+253del
ENST00000355133.7:c.706+252_706+253del	ENSP00000347255.4:n.706+252_706+253del
ENST00000545061.5:c.706+252_706+253del	ENSP00000440360.1:n.706+252_706+253del
ENST00000550891.4:n.834+5_834+6del
ENST00000551216.2:c.256+5_256+6del	ENSP00000447567.2:n.256+5_256+6del
ENST00000599343.5:c.706+252_706+253del	ENSP00000476447.3:n.706+252_706+253del
ENST00000627620.2:c.706+5_706+6del	ENSP00000487583.1:n.706+5_706+6del
NM_001177984.2:c.706+252_706+253del	NP_001171455.1:n.706+252_706+253del
NM_014191.3:c.706+252_706+253del	NP_055006.1:n.706+252_706+253del
XM_006719556.2:c.706+5_706+6del	XP_006719619.1:n.706+5_706+6del
XM_011538650.1:c.706+5_706+6del	XP_011536952.1:n.706+5_706+6del
XM_011538651.1:c.706+5_706+6del	XP_011536953.1:n.706+5_706+6del
NM_001330260.1:c.706+5_706+6del	NP_001317189.1:n.706+5_706+6del
XM_006719556.4:c.706+5_706+6del	XP_006719619.1:n.706+5_706+6del
XM_011538651.3:c.706+5_706+6del	XP_011536953.1:n.706+5_706+6del
XM_017019794.2:c.706+252_706+253del	XP_016875283.1:n.706+252_706+253del
XM_017019795.2:c.706+5_706+6del	XP_016875284.1:n.706+5_706+6del
XM_017019796.1:c.706+5_706+6del	XP_016875285.1:n.706+5_706+6del
NM_001330260.2:c.706+5_706+6del MANE Select	NP_001317189.1:n.706+5_706+6del
NM_001369788.1:c.706+5_706+6del	NP_001356717.1:n.706+5_706+6del
NM_014191.4:c.706+252_706+253del MANE Plus Clinical	NP_055006.1:n.706+252_706+253del
NM_001177984.3:c.706+252_706+253del	NP_001171455.1:n.706+252_706+253del