Canonical Allele Identifier: CA2846822371
Gene: SCN8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51806536_51806537insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA , CM000674.2:g.51806536_51806537insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA GRCh38
NC_000012.11:g.52200320_52200321insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA , CM000674.1:g.52200320_52200321insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA GRCh37
NC_000012.10:g.50486587_50486588insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA NCBI36
NG_021180.2:g.220301_220302insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA
NG_021180.3:g.221579_221580insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5050_5051insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA MANE Plus Clinical ENSP00000346534.4:p.Asp1684delinsAlaArgPheTyrSerTrpGlyGluSerG...
ENST00000627620.5:c.5050_5051insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA MANE Select ENSP00000487583.2:p.Asp1684delinsAlaArgPheTyrSerTrpGlyGluSerG...
ENST00000636945.2:c.3114_3115insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA
ENST00000662684.1:c.5050_5051insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA ENSP00000499636.1:p.Asp1684delinsAlaArgPheTyrSerTrpGlyGluSerG...
ENST00000668547.1:c.4927_4928insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA ENSP00000499691.1:p.Asp1643delinsAlaArgPheTyrSerTrpGlyGluSerG...
ENST00000354534.10:c.5050_5051insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA ENSP00000346534.4:p.Asp1684delinsAlaArgPheTyrSerTrpGlyGluSerG...
ENST00000355133.7:c.4927_4928insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA ENSP00000347255.4:p.Asp1643delinsAlaArgPheTyrSerTrpGlyGluSerG...
ENST00000545061.5:c.4927_4928insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA ENSP00000440360.1:p.Asp1643delinsAlaArgPheTyrSerTrpGlyGluSerG...
ENST00000599343.5:c.5083_5084insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA ENSP00000476447.3:p.Asp1695delinsAlaArgPheTyrSerTrpGlyGluSerG...
ENST00000627620.2:c.5050_5051insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA ENSP00000487583.1:p.Asp1684delinsAlaArgPheTyrSerTrpGlyGluSerG...
NM_001177984.2:c.4927_4928insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA NP_001171455.1:p.Asp1643delinsAlaArgPheTyrSerTrpGlyGluSerGlyG...
NM_014191.3:c.5050_5051insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA NP_055006.1:p.Asp1684delinsAlaArgPheTyrSerTrpGlyGluSerGlyGluA...
XM_006719556.2:c.5050_5051insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA XP_006719619.1:p.Asp1684delinsAlaArgPheTyrSerTrpGlyGluSerGlyG...
XM_011538650.1:c.5050_5051insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA XP_011536952.1:p.Asp1684delinsAlaArgPheTyrSerTrpGlyGluSerGlyG...
XM_011538651.1:c.5050_5051insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA XP_011536953.1:p.Asp1684delinsAlaArgPheTyrSerTrpGlyGluSerGlyG...
NM_001330260.1:c.5050_5051insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA NP_001317189.1:p.Asp1684delinsAlaArgPheTyrSerTrpGlyGluSerGlyG...
XM_006719556.4:c.5050_5051insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA XP_006719619.1:p.Asp1684delinsAlaArgPheTyrSerTrpGlyGluSerGlyG...
XM_011538651.3:c.5050_5051insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA XP_011536953.1:p.Asp1684delinsAlaArgPheTyrSerTrpGlyGluSerGlyG...
XM_017019794.2:c.5050_5051insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA XP_016875283.1:p.Asp1684delinsAlaArgPheTyrSerTrpGlyGluSerGlyG...
XM_017019795.2:c.4927_4928insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA XP_016875284.1:p.Asp1643delinsAlaArgPheTyrSerTrpGlyGluSerGlyG...
NM_001330260.2:c.5050_5051insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA MANE Select NP_001317189.1:p.Asp1684delinsAlaArgPheTyrSerTrpGlyGluSerGlyG...
NM_001369788.1:c.4927_4928insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA NP_001356717.1:p.Asp1643delinsAlaArgPheTyrSerTrpGlyGluSerGlyG...
NM_014191.4:c.5050_5051insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA MANE Plus Clinical NP_055006.1:p.Asp1684delinsAlaArgPheTyrSerTrpGlyGluSerGlyGluA...
NM_001177984.3:c.4927_4928insCACGCTTCTACTCTTGGGGAGAAAGTGGAGAGAATACAGGTACTGAAGCTACCATGCTCATGCTCACCACTA NP_001171455.1:p.Asp1643delinsAlaArgPheTyrSerTrpGlyGluSerGlyG...