Canonical Allele Identifier: CA2697553041

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 2765998
• ClinVar RCV Id: RCV003590418

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51689025_51689030del , CM000674.2:g.51689025_51689030del	GRCh38
NC_000012.11:g.52082809_52082814del , CM000674.1:g.52082809_52082814del	GRCh37
NC_000012.10:g.50369076_50369081del	NCBI36
NG_021180.2:g.102790_102795del
NG_021180.3:g.104068_104073del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703687.1:n.2649_2654del
ENST00000354534.11:c.706+176_706+181del MANE Plus Clinical	ENSP00000346534.4:n.706+176_706+181del
ENST00000627620.5:c.635_640del MANE Select	ENSP00000487583.2:p.Asp212_Leu213del
ENST00000637709.2:c.*150_*155del	ENSP00000490470.1:n.*150_*155del
ENST00000638820.1:c.635_640del	ENSP00000492157.1:p.Asp212_Leu213del
ENST00000662684.1:c.635_640del	ENSP00000499636.1:p.Asp212_Leu213del
ENST00000667214.1:c.706+176_706+181del	ENSP00000499724.1:n.706+176_706+181del
ENST00000668547.1:c.635_640del	ENSP00000499691.1:p.Asp212_Leu213del
ENST00000354534.10:c.706+176_706+181del	ENSP00000346534.4:n.706+176_706+181del
ENST00000355133.7:c.706+176_706+181del	ENSP00000347255.4:n.706+176_706+181del
ENST00000545061.5:c.706+176_706+181del	ENSP00000440360.1:n.706+176_706+181del
ENST00000550891.4:n.763_768del
ENST00000551216.2:c.185_190del	ENSP00000447567.2:p.Asp62_Leu63del
ENST00000599343.5:c.706+176_706+181del	ENSP00000476447.3:n.706+176_706+181del
ENST00000627620.2:c.635_640del	ENSP00000487583.1:p.Asp212_Leu213del
NM_001177984.2:c.706+176_706+181del	NP_001171455.1:n.706+176_706+181del
NM_014191.3:c.706+176_706+181del	NP_055006.1:n.706+176_706+181del
XM_006719556.2:c.635_640del	XP_006719619.1:p.Asp212_Leu213del
XM_011538650.1:c.635_640del	XP_011536952.1:p.Asp212_Leu213del
XM_011538651.1:c.635_640del	XP_011536953.1:p.Asp212_Leu213del
NM_001330260.1:c.635_640del	NP_001317189.1:p.Asp212_Leu213del
XM_006719556.4:c.635_640del	XP_006719619.1:p.Asp212_Leu213del
XM_011538651.3:c.635_640del	XP_011536953.1:p.Asp212_Leu213del
XM_017019794.2:c.706+176_706+181del	XP_016875283.1:n.706+176_706+181del
XM_017019795.2:c.635_640del	XP_016875284.1:p.Asp212_Leu213del
XM_017019796.1:c.635_640del	XP_016875285.1:p.Asp212_Leu213del
NM_001330260.2:c.635_640del MANE Select	NP_001317189.1:p.Asp212_Leu213del
NM_001369788.1:c.635_640del	NP_001356717.1:p.Asp212_Leu213del
NM_014191.4:c.706+176_706+181del MANE Plus Clinical	NP_055006.1:n.706+176_706+181del
NM_001177984.3:c.706+176_706+181del	NP_001171455.1:n.706+176_706+181del