Canonical Allele Identifier: CA2036192139

Gene: SCN8A

Linked Data

• dbSNP Id: rs1938695556

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51806122_51806123insACTTTTTGA , CM000674.2:g.51806122_51806123insACTTTTTGA	GRCh38
NC_000012.11:g.52199906_52199907insACTTTTTGA , CM000674.1:g.52199906_52199907insACTTTTTGA	GRCh37
NC_000012.10:g.50486173_50486174insACTTTTTGA	NCBI36
NG_021180.2:g.219887_219888insACTTTTTGA
NG_021180.3:g.221165_221166insACTTTTTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.4796-160_4796-159insACTTTTTGA MANE Plus Clinical	ENSP00000346534.4:n.4796-160_4796-159insACTTTTTGA
ENST00000627620.5:c.4796-160_4796-159insACTTTTTGA MANE Select	ENSP00000487583.2:n.4796-160_4796-159insACTTTTTGA
ENST00000636945.2:c.2860-160_2860-159insACTTTTTGA
ENST00000662684.1:c.4796-160_4796-159insACTTTTTGA	ENSP00000499636.1:n.4796-160_4796-159insACTTTTTGA
ENST00000668547.1:c.4673-160_4673-159insACTTTTTGA	ENSP00000499691.1:n.4673-160_4673-159insACTTTTTGA
ENST00000354534.10:c.4796-160_4796-159insACTTTTTGA	ENSP00000346534.4:n.4796-160_4796-159insACTTTTTGA
ENST00000355133.7:c.4673-160_4673-159insACTTTTTGA	ENSP00000347255.4:n.4673-160_4673-159insACTTTTTGA
ENST00000545061.5:c.4673-160_4673-159insACTTTTTGA	ENSP00000440360.1:n.4673-160_4673-159insACTTTTTGA
ENST00000599343.5:c.4829-160_4829-159insACTTTTTGA	ENSP00000476447.3:n.4829-160_4829-159insACTTTTTGA
ENST00000627620.2:c.4796-160_4796-159insACTTTTTGA	ENSP00000487583.1:n.4796-160_4796-159insACTTTTTGA
NM_001177984.2:c.4673-160_4673-159insACTTTTTGA	NP_001171455.1:n.4673-160_4673-159insACTTTTTGA
NM_014191.3:c.4796-160_4796-159insACTTTTTGA	NP_055006.1:n.4796-160_4796-159insACTTTTTGA
XM_006719556.2:c.4796-160_4796-159insACTTTTTGA	XP_006719619.1:n.4796-160_4796-159insACTTTTTGA
XM_011538650.1:c.4796-160_4796-159insACTTTTTGA	XP_011536952.1:n.4796-160_4796-159insACTTTTTGA
XM_011538651.1:c.4796-160_4796-159insACTTTTTGA	XP_011536953.1:n.4796-160_4796-159insACTTTTTGA
NM_001330260.1:c.4796-160_4796-159insACTTTTTGA	NP_001317189.1:n.4796-160_4796-159insACTTTTTGA
XM_006719556.4:c.4796-160_4796-159insACTTTTTGA	XP_006719619.1:n.4796-160_4796-159insACTTTTTGA
XM_011538651.3:c.4796-160_4796-159insACTTTTTGA	XP_011536953.1:n.4796-160_4796-159insACTTTTTGA
XM_017019794.2:c.4796-160_4796-159insACTTTTTGA	XP_016875283.1:n.4796-160_4796-159insACTTTTTGA
XM_017019795.2:c.4673-160_4673-159insACTTTTTGA	XP_016875284.1:n.4673-160_4673-159insACTTTTTGA
NM_001330260.2:c.4796-160_4796-159insACTTTTTGA MANE Select	NP_001317189.1:n.4796-160_4796-159insACTTTTTGA
NM_001369788.1:c.4673-160_4673-159insACTTTTTGA	NP_001356717.1:n.4673-160_4673-159insACTTTTTGA
NM_014191.4:c.4796-160_4796-159insACTTTTTGA MANE Plus Clinical	NP_055006.1:n.4796-160_4796-159insACTTTTTGA
NM_001177984.3:c.4673-160_4673-159insACTTTTTGA	NP_001171455.1:n.4673-160_4673-159insACTTTTTGA