Canonical Allele Identifier: CA2036159613
Gene: SCN8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51689136_51689138delinsCCT , CM000674.2:g.51689136_51689138delinsCCT GRCh38
NC_000012.11:g.52082920_52082922delinsCCT , CM000674.1:g.52082920_52082922delinsCCT GRCh37
NC_000012.10:g.50369187_50369189delinsCCT NCBI36
NG_021180.2:g.102901_102903delinsCCT
NG_021180.3:g.104179_104181delinsCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000703687.1:n.2760_2762delinsCCT
ENST00000354534.11:c.706+287_706+289delinsCCT MANE Plus Clinical ENSP00000346534.4:n.706+287_706+289delinsCCT
ENST00000627620.5:c.706+40_706+42delinsCCT MANE Select ENSP00000487583.2:n.706+40_706+42delinsCCT
ENST00000637709.2:c.*261_*263delinsCCT ENSP00000490470.1:n.*261_*263delinsCCT
ENST00000638820.1:c.706+40_706+42delinsCCT ENSP00000492157.1:n.706+40_706+42delinsCCT
ENST00000662684.1:c.706+40_706+42delinsCCT ENSP00000499636.1:n.706+40_706+42delinsCCT
ENST00000667214.1:c.706+287_706+289delinsCCT ENSP00000499724.1:n.706+287_706+289delinsCCT
ENST00000668547.1:c.706+40_706+42delinsCCT ENSP00000499691.1:n.706+40_706+42delinsCCT
ENST00000354534.10:c.706+287_706+289delinsCCT ENSP00000346534.4:n.706+287_706+289delinsCCT
ENST00000355133.7:c.706+287_706+289delinsCCT ENSP00000347255.4:n.706+287_706+289delinsCCT
ENST00000545061.5:c.706+287_706+289delinsCCT ENSP00000440360.1:n.706+287_706+289delinsCCT
ENST00000550891.4:n.834+40_834+42delinsCCT
ENST00000551216.2:c.256+40_256+42delinsCCT ENSP00000447567.2:n.256+40_256+42delinsCCT
ENST00000599343.5:c.706+287_706+289delinsCCT ENSP00000476447.3:n.706+287_706+289delinsCCT
ENST00000627620.2:c.706+40_706+42delinsCCT ENSP00000487583.1:n.706+40_706+42delinsCCT
NM_001177984.2:c.706+287_706+289delinsCCT NP_001171455.1:n.706+287_706+289delinsCCT
NM_014191.3:c.706+287_706+289delinsCCT NP_055006.1:n.706+287_706+289delinsCCT
XM_006719556.2:c.706+40_706+42delinsCCT XP_006719619.1:n.706+40_706+42delinsCCT
XM_011538650.1:c.706+40_706+42delinsCCT XP_011536952.1:n.706+40_706+42delinsCCT
XM_011538651.1:c.706+40_706+42delinsCCT XP_011536953.1:n.706+40_706+42delinsCCT
NM_001330260.1:c.706+40_706+42delinsCCT NP_001317189.1:n.706+40_706+42delinsCCT
XM_006719556.4:c.706+40_706+42delinsCCT XP_006719619.1:n.706+40_706+42delinsCCT
XM_011538651.3:c.706+40_706+42delinsCCT XP_011536953.1:n.706+40_706+42delinsCCT
XM_017019794.2:c.706+287_706+289delinsCCT XP_016875283.1:n.706+287_706+289delinsCCT
XM_017019795.2:c.706+40_706+42delinsCCT XP_016875284.1:n.706+40_706+42delinsCCT
XM_017019796.1:c.706+40_706+42delinsCCT XP_016875285.1:n.706+40_706+42delinsCCT
NM_001330260.2:c.706+40_706+42delinsCCT MANE Select NP_001317189.1:n.706+40_706+42delinsCCT
NM_001369788.1:c.706+40_706+42delinsCCT NP_001356717.1:n.706+40_706+42delinsCCT
NM_014191.4:c.706+287_706+289delinsCCT MANE Plus Clinical NP_055006.1:n.706+287_706+289delinsCCT
NM_001177984.3:c.706+287_706+289delinsCCT NP_001171455.1:n.706+287_706+289delinsCCT