Canonical Allele Identifier: CA2618841539

Gene: SCN8A

Linked Data

• gnomAD v4: 12-51806570-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51806571del , CM000674.2:g.51806571del	GRCh38
NC_000012.11:g.52200355del , CM000674.1:g.52200355del	GRCh37
NC_000012.10:g.50486622del	NCBI36
NG_021180.2:g.220336del
NG_021180.3:g.221614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.5085del MANE Plus Clinical	ENSP00000346534.4:p.Met1695IlefsTer21
ENST00000627620.5:c.5085del MANE Select	ENSP00000487583.2:p.Met1695IlefsTer21
ENST00000636945.2:c.3149del
ENST00000662684.1:c.5085del	ENSP00000499636.1:p.Met1695IlefsTer21
ENST00000668547.1:c.4962del	ENSP00000499691.1:p.Met1654IlefsTer21
ENST00000354534.10:c.5085del	ENSP00000346534.4:p.Met1695IlefsTer21
ENST00000355133.7:c.4962del	ENSP00000347255.4:p.Met1654IlefsTer21
ENST00000545061.5:c.4962del	ENSP00000440360.1:p.Met1654IlefsTer21
ENST00000599343.5:c.5118del	ENSP00000476447.3:p.Met1706IlefsTer21
ENST00000627620.2:c.5085del	ENSP00000487583.1:p.Met1695IlefsTer21
NM_001177984.2:c.4962del	NP_001171455.1:p.Met1654IlefsTer21
NM_014191.3:c.5085del	NP_055006.1:p.Met1695IlefsTer21
XM_006719556.2:c.5085del	XP_006719619.1:p.Met1695IlefsTer21
XM_011538650.1:c.5085del	XP_011536952.1:p.Met1695IlefsTer21
XM_011538651.1:c.5085del	XP_011536953.1:p.Met1695IlefsTer21
NM_001330260.1:c.5085del	NP_001317189.1:p.Met1695IlefsTer21
XM_006719556.4:c.5085del	XP_006719619.1:p.Met1695IlefsTer21
XM_011538651.3:c.5085del	XP_011536953.1:p.Met1695IlefsTer21
XM_017019794.2:c.5085del	XP_016875283.1:p.Met1695IlefsTer21
XM_017019795.2:c.4962del	XP_016875284.1:p.Met1654IlefsTer21
NM_001330260.2:c.5085del MANE Select	NP_001317189.1:p.Met1695IlefsTer21
NM_001369788.1:c.4962del	NP_001356717.1:p.Met1654IlefsTer21
NM_014191.4:c.5085del MANE Plus Clinical	NP_055006.1:p.Met1695IlefsTer21
NM_001177984.3:c.4962del	NP_001171455.1:p.Met1654IlefsTer21