Canonical Allele Identifier: CA2036158340

Gene: SCN8A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51685754_51685755delinsAG , CM000674.2:g.51685754_51685755delinsAG	GRCh38
NC_000012.11:g.52079538_52079539delinsAG , CM000674.1:g.52079538_52079539delinsAG	GRCh37
NC_000012.10:g.50365805_50365806delinsAG	NCBI36
NG_021180.2:g.99519_99520delinsAG
NG_021180.3:g.100797_100798delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000703687.1:n.625-614_625-613delinsAG
ENST00000354534.11:c.396-614_396-613delinsAG MANE Plus Clinical	ENSP00000346534.4:n.396-614_396-613delins...
ENST00000627620.5:c.396-614_396-613delinsAG MANE Select	ENSP00000487583.2:n.396-614_396-613delins...
ENST00000637709.2:c.396-614_396-613delinsAG	ENSP00000490470.1:n.396-614_396-613delins...
ENST00000638820.1:c.396-614_396-613delinsAG	ENSP00000492157.1:n.396-614_396-613delins...
ENST00000662684.1:c.396-614_396-613delinsAG	ENSP00000499636.1:n.396-614_396-613delins...
ENST00000667214.1:c.396-614_396-613delinsAG	ENSP00000499724.1:n.396-614_396-613delins...
ENST00000668547.1:c.396-614_396-613delinsAG	ENSP00000499691.1:n.396-614_396-613delins...
ENST00000354534.10:c.396-614_396-613delinsAG	ENSP00000346534.4:n.396-614_396-613delins...
ENST00000355133.7:c.396-614_396-613delinsAG	ENSP00000347255.4:n.396-614_396-613delins...
ENST00000545061.5:c.396-614_396-613delinsAG	ENSP00000440360.1:n.396-614_396-613delins...
ENST00000550891.4:n.524-614_524-613delinsAG
ENST00000599343.5:c.396-614_396-613delinsAG	ENSP00000476447.3:n.396-614_396-613delins...
ENST00000627620.2:c.396-614_396-613delinsAG	ENSP00000487583.1:n.396-614_396-613delins...
NM_001177984.2:c.396-614_396-613delinsAG	NP_001171455.1:n.396-614_396-613delinsAG
NM_014191.3:c.396-614_396-613delinsAG	NP_055006.1:n.396-614_396-613delinsAG
XM_006719556.2:c.396-614_396-613delinsAG	XP_006719619.1:n.396-614_396-613delinsAG
XM_011538650.1:c.396-614_396-613delinsAG	XP_011536952.1:n.396-614_396-613delinsAG
XM_011538651.1:c.396-614_396-613delinsAG	XP_011536953.1:n.396-614_396-613delinsAG
NM_001330260.1:c.396-614_396-613delinsAG	NP_001317189.1:n.396-614_396-613delinsAG
XM_006719556.4:c.396-614_396-613delinsAG	XP_006719619.1:n.396-614_396-613delinsAG
XM_011538651.3:c.396-614_396-613delinsAG	XP_011536953.1:n.396-614_396-613delinsAG
XM_017019794.2:c.396-614_396-613delinsAG	XP_016875283.1:n.396-614_396-613delinsAG
XM_017019795.2:c.396-614_396-613delinsAG	XP_016875284.1:n.396-614_396-613delinsAG
XM_017019796.1:c.396-614_396-613delinsAG	XP_016875285.1:n.396-614_396-613delinsAG
NM_001330260.2:c.396-614_396-613delinsAG MANE Select	NP_001317189.1:n.396-614_396-613delinsAG
NM_001369788.1:c.396-614_396-613delinsAG	NP_001356717.1:n.396-614_396-613delinsAG
NM_014191.4:c.396-614_396-613delinsAG MANE Plus Clinical	NP_055006.1:n.396-614_396-613delinsAG
NM_001177984.3:c.396-614_396-613delinsAG	NP_001171455.1:n.396-614_396-613delinsAG