Canonical Allele Identifier: CA2695216870
Gene: SCN8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51806346_51806349dup , CM000674.2:g.51806346_51806349dup GRCh38
NC_000012.11:g.52200130_52200133dup , CM000674.1:g.52200130_52200133dup GRCh37
NC_000012.10:g.50486397_50486400dup NCBI36
NG_021180.2:g.220111_220114dup
NG_021180.3:g.221389_221392dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.4860_4863dup MANE Plus Clinical ENSP00000346534.4:p.Ala1622IlefsTer?
ENST00000627620.5:c.4860_4863dup MANE Select ENSP00000487583.2:p.Ala1622IlefsTer?
ENST00000636945.2:c.2924_2927dup
ENST00000662684.1:c.4860_4863dup ENSP00000499636.1:p.Ala1622IlefsTer?
ENST00000668547.1:c.4737_4740dup ENSP00000499691.1:p.Ala1581IlefsTer?
ENST00000354534.10:c.4860_4863dup ENSP00000346534.4:p.Ala1622IlefsTer?
ENST00000355133.7:c.4737_4740dup ENSP00000347255.4:p.Ala1581IlefsTer?
ENST00000545061.5:c.4737_4740dup ENSP00000440360.1:p.Ala1581IlefsTer?
ENST00000599343.5:c.4893_4896dup ENSP00000476447.3:p.Ala1633IlefsTer?
ENST00000627620.2:c.4860_4863dup ENSP00000487583.1:p.Ala1622IlefsTer?
NM_001177984.2:c.4737_4740dup NP_001171455.1:p.Ala1581IlefsTer?
NM_014191.3:c.4860_4863dup NP_055006.1:p.Ala1622IlefsTer?
XM_006719556.2:c.4860_4863dup XP_006719619.1:p.Ala1622IlefsTer?
XM_011538650.1:c.4860_4863dup XP_011536952.1:p.Ala1622IlefsTer?
XM_011538651.1:c.4860_4863dup XP_011536953.1:p.Ala1622IlefsTer?
NM_001330260.1:c.4860_4863dup NP_001317189.1:p.Ala1622IlefsTer?
XM_006719556.4:c.4860_4863dup XP_006719619.1:p.Ala1622IlefsTer?
XM_011538651.3:c.4860_4863dup XP_011536953.1:p.Ala1622IlefsTer?
XM_017019794.2:c.4860_4863dup XP_016875283.1:p.Ala1622IlefsTer?
XM_017019795.2:c.4737_4740dup XP_016875284.1:p.Ala1581IlefsTer?
NM_001330260.2:c.4860_4863dup MANE Select NP_001317189.1:p.Ala1622IlefsTer?
NM_001369788.1:c.4737_4740dup NP_001356717.1:p.Ala1581IlefsTer?
NM_014191.4:c.4860_4863dup MANE Plus Clinical NP_055006.1:p.Ala1622IlefsTer?
NM_001177984.3:c.4737_4740dup NP_001171455.1:p.Ala1581IlefsTer?