Canonical Allele Identifier: CA2580086436

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 2031790
• ClinVar RCV Id: RCV002867479

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51768913_51768933del , CM000674.2:g.51768913_51768933del	GRCh38
NC_000012.11:g.52162697_52162717del , CM000674.1:g.52162697_52162717del	GRCh37
NC_000012.10:g.50448964_50448984del	NCBI36
NG_021180.2:g.182678_182698del
NG_021180.3:g.183956_183976del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.2950_2970del MANE Plus Clinical	ENSP00000346534.4:p.Asn984_Asp990del
ENST00000548086.3:c.797_817del
ENST00000627620.5:c.2950_2970del MANE Select	ENSP00000487583.2:p.Asn984_Asp990del
ENST00000636945.2:c.1014_1034del
ENST00000662684.1:c.2950_2970del	ENSP00000499636.1:p.Asn984_Asp990del
ENST00000668547.1:c.2950_2970del	ENSP00000499691.1:p.Asn984_Asp990del
ENST00000354534.10:c.2950_2970del	ENSP00000346534.4:p.Asn984_Asp990del
ENST00000355133.7:c.2950_2970del	ENSP00000347255.4:p.Asn984_Asp990del
ENST00000545061.5:c.2950_2970del	ENSP00000440360.1:p.Asn984_Asp990del
ENST00000599343.5:c.2983_3003del	ENSP00000476447.3:p.Asn995_Asp1001del
ENST00000627620.2:c.2950_2970del	ENSP00000487583.1:p.Asn984_Asp990del
NM_001177984.2:c.2950_2970del	NP_001171455.1:p.Asn984_Asp990del
NM_014191.3:c.2950_2970del	NP_055006.1:p.Asn984_Asp990del
XM_006719556.2:c.2950_2970del	XP_006719619.1:p.Asn984_Asp990del
XM_011538650.1:c.2950_2970del	XP_011536952.1:p.Asn984_Asp990del
XM_011538651.1:c.2950_2970del	XP_011536953.1:p.Asn984_Asp990del
NM_001330260.1:c.2950_2970del	NP_001317189.1:p.Asn984_Asp990del
XM_006719556.4:c.2950_2970del	XP_006719619.1:p.Asn984_Asp990del
XM_011538651.3:c.2950_2970del	XP_011536953.1:p.Asn984_Asp990del
XM_017019794.2:c.2950_2970del	XP_016875283.1:p.Asn984_Asp990del
XM_017019795.2:c.2950_2970del	XP_016875284.1:p.Asn984_Asp990del
XM_017019796.1:c.2950_2970del	XP_016875285.1:p.Asn984_Asp990del
NM_001330260.2:c.2950_2970del MANE Select	NP_001317189.1:p.Asn984_Asp990del
NM_001369788.1:c.2950_2970del	NP_001356717.1:p.Asn984_Asp990del
NM_014191.4:c.2950_2970del MANE Plus Clinical	NP_055006.1:p.Asn984_Asp990del
NM_001177984.3:c.2950_2970del	NP_001171455.1:p.Asn984_Asp990del