Canonical Allele Identifier: CA6571135

Gene: SCN8A

Linked Data

• dbSNP Id: rs373798897
• ExAC: 12:52082916 ATC / A
• gnomAD v2: 12-52082916-ATC-A
• gnomAD v3: 12-51689132-ATC-A
• gnomAD v4: 12-51689132-ATC-A
• MyVariant Identifiers: chr12:g.52082917_52082918del (hg19) ; chr12:g.51689133_51689134del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51689135_51689136del , CM000674.2:g.51689135_51689136del	GRCh38
NC_000012.11:g.52082919_52082920del , CM000674.1:g.52082919_52082920del	GRCh37
NC_000012.10:g.50369186_50369187del	NCBI36
NG_021180.2:g.102900_102901del
NG_021180.3:g.104178_104179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703687.1:n.2759_2760del
ENST00000354534.11:c.706+286_706+287del MANE Plus Clinical	ENSP00000346534.4:n.706+286_706+287del
ENST00000627620.5:c.706+39_706+40del MANE Select	ENSP00000487583.2:n.706+39_706+40del
ENST00000637709.2:c.*260_*261del	ENSP00000490470.1:n.*260_*261del
ENST00000638820.1:c.706+39_706+40del	ENSP00000492157.1:n.706+39_706+40del
ENST00000662684.1:c.706+39_706+40del	ENSP00000499636.1:n.706+39_706+40del
ENST00000667214.1:c.706+286_706+287del	ENSP00000499724.1:n.706+286_706+287del
ENST00000668547.1:c.706+39_706+40del	ENSP00000499691.1:n.706+39_706+40del
ENST00000354534.10:c.706+286_706+287del	ENSP00000346534.4:n.706+286_706+287del
ENST00000355133.7:c.706+286_706+287del	ENSP00000347255.4:n.706+286_706+287del
ENST00000545061.5:c.706+286_706+287del	ENSP00000440360.1:n.706+286_706+287del
ENST00000550891.4:n.834+39_834+40del
ENST00000551216.2:c.256+39_256+40del	ENSP00000447567.2:n.256+39_256+40del
ENST00000599343.5:c.706+286_706+287del	ENSP00000476447.3:n.706+286_706+287del
ENST00000627620.2:c.706+39_706+40del	ENSP00000487583.1:n.706+39_706+40del
NM_001177984.2:c.706+286_706+287del	NP_001171455.1:n.706+286_706+287del
NM_014191.3:c.706+286_706+287del	NP_055006.1:n.706+286_706+287del
XM_006719556.2:c.706+39_706+40del	XP_006719619.1:n.706+39_706+40del
XM_011538650.1:c.706+39_706+40del	XP_011536952.1:n.706+39_706+40del
XM_011538651.1:c.706+39_706+40del	XP_011536953.1:n.706+39_706+40del
NM_001330260.1:c.706+39_706+40del	NP_001317189.1:n.706+39_706+40del
XM_006719556.4:c.706+39_706+40del	XP_006719619.1:n.706+39_706+40del
XM_011538651.3:c.706+39_706+40del	XP_011536953.1:n.706+39_706+40del
XM_017019794.2:c.706+286_706+287del	XP_016875283.1:n.706+286_706+287del
XM_017019795.2:c.706+39_706+40del	XP_016875284.1:n.706+39_706+40del
XM_017019796.1:c.706+39_706+40del	XP_016875285.1:n.706+39_706+40del
NM_001330260.2:c.706+39_706+40del MANE Select	NP_001317189.1:n.706+39_706+40del
NM_001369788.1:c.706+39_706+40del	NP_001356717.1:n.706+39_706+40del
NM_014191.4:c.706+286_706+287del MANE Plus Clinical	NP_055006.1:n.706+286_706+287del
NM_001177984.3:c.706+286_706+287del	NP_001171455.1:n.706+286_706+287del