Canonical Allele Identifier: CA2545519987

Gene: SCN8A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51807538_51807543del , CM000674.2:g.51807538_51807543del	GRCh38
NC_000012.11:g.52201322_52201327del , CM000674.1:g.52201322_52201327del	GRCh37
NC_000012.10:g.50487589_50487594del	NCBI36
NG_021180.2:g.221303_221308del
NG_021180.3:g.222581_222586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.*109_*114del MANE Plus Clinical	ENSP00000346534.4:n.*109_*114del
ENST00000627620.5:c.*109_*114del MANE Select	ENSP00000487583.2:n.*109_*114del
ENST00000662684.1:c.*109_*114del	ENSP00000499636.1:n.*109_*114del
ENST00000668547.1:c.*109_*114del	ENSP00000499691.1:n.*109_*114del
ENST00000354534.10:c.*109_*114del	ENSP00000346534.4:n.*109_*114del
ENST00000545061.5:c.*109_*114del	ENSP00000440360.1:n.*109_*114del
NM_001177984.2:c.*109_*114del	NP_001171455.1:n.*109_*114del
NM_014191.3:c.*109_*114del	NP_055006.1:n.*109_*114del
XM_006719556.2:c.*109_*114del	XP_006719619.1:n.*109_*114del
XM_011538650.1:c.*109_*114del	XP_011536952.1:n.*109_*114del
XM_011538651.1:c.*109_*114del	XP_011536953.1:n.*109_*114del
NM_001330260.1:c.*109_*114del	NP_001317189.1:n.*109_*114del
XM_006719556.4:c.*109_*114del	XP_006719619.1:n.*109_*114del
XM_011538651.3:c.*109_*114del	XP_011536953.1:n.*109_*114del
XM_017019794.2:c.*109_*114del	XP_016875283.1:n.*109_*114del
XM_017019795.2:c.*109_*114del	XP_016875284.1:n.*109_*114del
NM_001330260.2:c.*109_*114del MANE Select	NP_001317189.1:n.*109_*114del
NM_001369788.1:c.*109_*114del	NP_001356717.1:n.*109_*114del
NM_014191.4:c.*109_*114del MANE Plus Clinical	NP_055006.1:n.*109_*114del
NM_001177984.3:c.*109_*114del	NP_001171455.1:n.*109_*114del