Canonical Allele Identifier: CA2618837212

Gene: SCN8A

Linked Data

• gnomAD v4: 12-51688961-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51688965_51688966del , CM000674.2:g.51688965_51688966del	GRCh38
NC_000012.11:g.52082749_52082750del , CM000674.1:g.52082749_52082750del	GRCh37
NC_000012.10:g.50369016_50369017del	NCBI36
NG_021180.2:g.102730_102731del
NG_021180.3:g.104008_104009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703687.1:n.2589_2590del
ENST00000354534.11:c.706+116_706+117del MANE Plus Clinical	ENSP00000346534.4:n.706+116_706+117del
ENST00000627620.5:c.615-40_615-39del MANE Select	ENSP00000487583.2:n.615-40_615-39del
ENST00000637709.2:c.*90_*91del	ENSP00000490470.1:n.*90_*91del
ENST00000638820.1:c.615-40_615-39del	ENSP00000492157.1:n.615-40_615-39del
ENST00000662684.1:c.615-40_615-39del	ENSP00000499636.1:n.615-40_615-39del
ENST00000667214.1:c.706+116_706+117del	ENSP00000499724.1:n.706+116_706+117del
ENST00000668547.1:c.615-40_615-39del	ENSP00000499691.1:n.615-40_615-39del
ENST00000354534.10:c.706+116_706+117del	ENSP00000346534.4:n.706+116_706+117del
ENST00000355133.7:c.706+116_706+117del	ENSP00000347255.4:n.706+116_706+117del
ENST00000545061.5:c.706+116_706+117del	ENSP00000440360.1:n.706+116_706+117del
ENST00000550891.4:n.743-40_743-39del
ENST00000551216.2:c.165-40_165-39del	ENSP00000447567.2:n.165-40_165-39del
ENST00000599343.5:c.706+116_706+117del	ENSP00000476447.3:n.706+116_706+117del
ENST00000627620.2:c.615-40_615-39del	ENSP00000487583.1:n.615-40_615-39del
NM_001177984.2:c.706+116_706+117del	NP_001171455.1:n.706+116_706+117del
NM_014191.3:c.706+116_706+117del	NP_055006.1:n.706+116_706+117del
XM_006719556.2:c.615-40_615-39del	XP_006719619.1:n.615-40_615-39del
XM_011538650.1:c.615-40_615-39del	XP_011536952.1:n.615-40_615-39del
XM_011538651.1:c.615-40_615-39del	XP_011536953.1:n.615-40_615-39del
NM_001330260.1:c.615-40_615-39del	NP_001317189.1:n.615-40_615-39del
XM_006719556.4:c.615-40_615-39del	XP_006719619.1:n.615-40_615-39del
XM_011538651.3:c.615-40_615-39del	XP_011536953.1:n.615-40_615-39del
XM_017019794.2:c.706+116_706+117del	XP_016875283.1:n.706+116_706+117del
XM_017019795.2:c.615-40_615-39del	XP_016875284.1:n.615-40_615-39del
XM_017019796.1:c.615-40_615-39del	XP_016875285.1:n.615-40_615-39del
NM_001330260.2:c.615-40_615-39del MANE Select	NP_001317189.1:n.615-40_615-39del
NM_001369788.1:c.615-40_615-39del	NP_001356717.1:n.615-40_615-39del
NM_014191.4:c.706+116_706+117del MANE Plus Clinical	NP_055006.1:n.706+116_706+117del
NM_001177984.3:c.706+116_706+117del	NP_001171455.1:n.706+116_706+117del