Canonical Allele Identifier: CA2618842115

Gene: SCN8A

Linked Data

• gnomAD v4: 12-51807123-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51807125_51807126dup , CM000674.2:g.51807125_51807126dup	GRCh38
NC_000012.11:g.52200909_52200910dup , CM000674.1:g.52200909_52200910dup	GRCh37
NC_000012.10:g.50487176_50487177dup	NCBI36
NG_021180.2:g.220890_220891dup
NG_021180.3:g.222168_222169dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.5639_5640dup MANE Plus Clinical	ENSP00000346534.4:p.Val1881LysfsTer?
ENST00000627620.5:c.5639_5640dup MANE Select	ENSP00000487583.2:p.Val1881LysfsTer?
ENST00000662684.1:c.5639_5640dup	ENSP00000499636.1:p.Val1881LysfsTer?
ENST00000668547.1:c.5516_5517dup	ENSP00000499691.1:p.Val1840LysfsTer?
ENST00000354534.10:c.5639_5640dup	ENSP00000346534.4:p.Val1881LysfsTer?
ENST00000355133.7:c.5516_5517dup	ENSP00000347255.4:p.Val1840LysfsTer?
ENST00000545061.5:c.5516_5517dup	ENSP00000440360.1:p.Val1840LysfsTer?
ENST00000599343.5:c.5672_5673dup	ENSP00000476447.3:p.Val1892LysfsTer?
ENST00000627620.2:c.5639_5640dup	ENSP00000487583.1:p.Val1881LysfsTer?
NM_001177984.2:c.5516_5517dup	NP_001171455.1:p.Val1840LysfsTer?
NM_014191.3:c.5639_5640dup	NP_055006.1:p.Val1881LysfsTer?
XM_006719556.2:c.5639_5640dup	XP_006719619.1:p.Val1881LysfsTer?
XM_011538650.1:c.5639_5640dup	XP_011536952.1:p.Val1881LysfsTer?
XM_011538651.1:c.5639_5640dup	XP_011536953.1:p.Val1881LysfsTer?
NM_001330260.1:c.5639_5640dup	NP_001317189.1:p.Val1881LysfsTer?
XM_006719556.4:c.5639_5640dup	XP_006719619.1:p.Val1881LysfsTer?
XM_011538651.3:c.5639_5640dup	XP_011536953.1:p.Val1881LysfsTer?
XM_017019794.2:c.5639_5640dup	XP_016875283.1:p.Val1881LysfsTer?
XM_017019795.2:c.5516_5517dup	XP_016875284.1:p.Val1840LysfsTer?
NM_001330260.2:c.5639_5640dup MANE Select	NP_001317189.1:p.Val1881LysfsTer?
NM_001369788.1:c.5516_5517dup	NP_001356717.1:p.Val1840LysfsTer?
NM_014191.4:c.5639_5640dup MANE Plus Clinical	NP_055006.1:p.Val1881LysfsTer?
NM_001177984.3:c.5516_5517dup	NP_001171455.1:p.Val1840LysfsTer?