Canonical Allele Identifier: CA2618842638

Gene: SCN8A

Linked Data

• gnomAD v4: 12-51807528-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51807531_51807532del , CM000674.2:g.51807531_51807532del	GRCh38
NC_000012.11:g.52201315_52201316del , CM000674.1:g.52201315_52201316del	GRCh37
NC_000012.10:g.50487582_50487583del	NCBI36
NG_021180.2:g.221296_221297del
NG_021180.3:g.222574_222575del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.*102_*103del MANE Plus Clinical	ENSP00000346534.4:n.*102_*103del
ENST00000627620.5:c.*102_*103del MANE Select	ENSP00000487583.2:n.*102_*103del
ENST00000662684.1:c.*102_*103del	ENSP00000499636.1:n.*102_*103del
ENST00000668547.1:c.*102_*103del	ENSP00000499691.1:n.*102_*103del
ENST00000354534.10:c.*102_*103del	ENSP00000346534.4:n.*102_*103del
ENST00000545061.5:c.*102_*103del	ENSP00000440360.1:n.*102_*103del
NM_001177984.2:c.*102_*103del	NP_001171455.1:n.*102_*103del
NM_014191.3:c.*102_*103del	NP_055006.1:n.*102_*103del
XM_006719556.2:c.*102_*103del	XP_006719619.1:n.*102_*103del
XM_011538650.1:c.*102_*103del	XP_011536952.1:n.*102_*103del
XM_011538651.1:c.*102_*103del	XP_011536953.1:n.*102_*103del
NM_001330260.1:c.*102_*103del	NP_001317189.1:n.*102_*103del
XM_006719556.4:c.*102_*103del	XP_006719619.1:n.*102_*103del
XM_011538651.3:c.*102_*103del	XP_011536953.1:n.*102_*103del
XM_017019794.2:c.*102_*103del	XP_016875283.1:n.*102_*103del
XM_017019795.2:c.*102_*103del	XP_016875284.1:n.*102_*103del
NM_001330260.2:c.*102_*103del MANE Select	NP_001317189.1:n.*102_*103del
NM_001369788.1:c.*102_*103del	NP_001356717.1:n.*102_*103del
NM_014191.4:c.*102_*103del MANE Plus Clinical	NP_055006.1:n.*102_*103del
NM_001177984.3:c.*102_*103del	NP_001171455.1:n.*102_*103del