Canonical Allele Identifier: CA2618840718

Gene: SCN8A

Linked Data

• gnomAD v4: 12-51765671-C-CTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51765672_51765673insTTTTT , CM000674.2:g.51765672_51765673insTTTTT	GRCh38
NC_000012.11:g.52159456_52159457insTTTTT , CM000674.1:g.52159456_52159457insTTTTT	GRCh37
NC_000012.10:g.50445723_50445724insTTTTT	NCBI36
NG_021180.2:g.179437_179438insTTTTT
NG_021180.3:g.180715_180716insTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.2546_2547insTTTTT MANE Plus Clinical	ENSP00000346534.4:p.Arg850PhefsTer14
ENST00000548086.3:c.393_394insTTTTT
ENST00000627620.5:c.2546_2547insTTTTT MANE Select	ENSP00000487583.2:p.Arg850PhefsTer14
ENST00000636945.2:c.550_551insTTTTT
ENST00000662684.1:c.2546_2547insTTTTT	ENSP00000499636.1:p.Arg850PhefsTer14
ENST00000668547.1:c.2546_2547insTTTTT	ENSP00000499691.1:p.Arg850PhefsTer14
ENST00000354534.10:c.2546_2547insTTTTT	ENSP00000346534.4:p.Arg850PhefsTer14
ENST00000355133.7:c.2546_2547insTTTTT	ENSP00000347255.4:p.Arg850PhefsTer14
ENST00000545061.5:c.2546_2547insTTTTT	ENSP00000440360.1:p.Arg850PhefsTer14
ENST00000550891.4:n.2674_2675insTTTTT
ENST00000599343.5:c.2579_2580insTTTTT	ENSP00000476447.3:p.Arg861PhefsTer14
ENST00000627620.2:c.2546_2547insTTTTT	ENSP00000487583.1:p.Arg850PhefsTer14
NM_001177984.2:c.2546_2547insTTTTT	NP_001171455.1:p.Arg850PhefsTer14
NM_014191.3:c.2546_2547insTTTTT	NP_055006.1:p.Arg850PhefsTer14
XM_006719556.2:c.2546_2547insTTTTT	XP_006719619.1:p.Arg850PhefsTer14
XM_011538650.1:c.2546_2547insTTTTT	XP_011536952.1:p.Arg850PhefsTer14
XM_011538651.1:c.2546_2547insTTTTT	XP_011536953.1:p.Arg850PhefsTer14
NM_001330260.1:c.2546_2547insTTTTT	NP_001317189.1:p.Arg850PhefsTer14
XM_006719556.4:c.2546_2547insTTTTT	XP_006719619.1:p.Arg850PhefsTer14
XM_011538651.3:c.2546_2547insTTTTT	XP_011536953.1:p.Arg850PhefsTer14
XM_017019794.2:c.2546_2547insTTTTT	XP_016875283.1:p.Arg850PhefsTer14
XM_017019795.2:c.2546_2547insTTTTT	XP_016875284.1:p.Arg850PhefsTer14
XM_017019796.1:c.2546_2547insTTTTT	XP_016875285.1:p.Arg850PhefsTer14
NM_001330260.2:c.2546_2547insTTTTT MANE Select	NP_001317189.1:p.Arg850PhefsTer14
NM_001369788.1:c.2546_2547insTTTTT	NP_001356717.1:p.Arg850PhefsTer14
NM_014191.4:c.2546_2547insTTTTT MANE Plus Clinical	NP_055006.1:p.Arg850PhefsTer14
NM_001177984.3:c.2546_2547insTTTTT	NP_001171455.1:p.Arg850PhefsTer14