Canonical Allele Identifier: CA16617298
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 420470
ClinVar RCV Id: RCV000481280
dbSNP Id: rs1064794495

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166015707_166015710del , CM000664.2:g.166015707_166015710del GRCh38
NC_000002.11:g.166872217_166872220del , CM000664.1:g.166872217_166872220del GRCh37
NC_000002.10:g.166580463_166580466del NCBI36
NG_011906.1:g.62931_62934del , LRG_8:g.62931_62934del

Transcript Alleles

HGVS Amino-acid change
ENST00000689288.1:c.*1484_*1487del ENSP00000509637.1:n.*1484_*1487del
ENST00000303395.9:c.3448_3451del ENSP00000303540.4:p.Ser1150HisfsTer13
ENST00000635750.1:c.3415_3418del ENSP00000490799.1:p.Ser1139HisfsTer13
ENST00000635776.1:c.3415_3418del ENSP00000490692.1:p.Ser1139HisfsTer13
ENST00000636194.1:c.*941_*944del ENSP00000490288.1:n.*941_*944del
ENST00000637038.1:n.246_249del
ENST00000637968.1:n.3700_3703del
ENST00000637988.1:c.3415_3418del ENSP00000490780.1:p.Ser1139HisfsTer13
ENST00000640036.1:c.3415_3418del ENSP00000491573.1:p.Ser1139HisfsTer13
ENST00000641575.1:c.3412_3415del ENSP00000492917.1:p.Ser1138HisfsTer13
ENST00000641603.1:c.3448_3451del ENSP00000492945.1:p.Ser1150HisfsTer13
ENST00000641996.1:c.*3002_*3005del ENSP00000493054.1:n.*3002_*3005del
ENST00000671940.1:c.*1391_*1394del ENSP00000500336.1:n.*1391_*1394del
ENST00000673490.1:n.5921_5924del
ENST00000674923.1:c.3448_3451del MANE Select ENSP00000501589.1:p.Ser1150HisfsTer13
ENST00000303395.8:c.3448_3451del ENSP00000303540.4:p.Ser1150HisfsTer13
ENST00000375405.7:c.3415_3418del ENSP00000364554.3:p.Ser1139HisfsTer13
ENST00000409050.1:n.3364_3367del ENSP00000386312.1:p.Ser1122HisfsTer13
ENST00000423058.6:c.3448_3451del ENSP00000407030.2:p.Ser1150HisfsTer13
NM_001165963.1:c.3448_3451del NP_001159435.1:p.Ser1150HisfsTer13
NM_001165964.1:c.3364_3367del NP_001159436.1:p.Ser1122HisfsTer13
NM_001202435.1:c.3448_3451del NP_001189364.1:p.Ser1150HisfsTer13
NM_006920.4:c.3415_3418del , LRG_8t1:c.3415_3418del NP_008851.3:p.Ser1139HisfsTer13
NR_110598.1:n.270_273del
XM_011511598.1:c.3448_3451del XP_011509900.1:p.Ser1150HisfsTer13
XM_011511599.1:c.3448_3451del XP_011509901.1:p.Ser1150HisfsTer13
XM_011511600.1:c.3448_3451del XP_011509902.1:p.Ser1150HisfsTer13
XM_011511601.1:c.3448_3451del XP_011509903.1:p.Ser1150HisfsTer13
XM_011511602.1:c.3448_3451del XP_011509904.1:p.Ser1150HisfsTer13
XM_011511603.1:c.3445_3448del XP_011509905.1:p.Ser1149HisfsTer13
XM_011511604.1:c.3415_3418del XP_011509906.1:p.Ser1139HisfsTer13
XM_011511605.1:c.3412_3415del XP_011509907.1:p.Ser1138HisfsTer13
XM_011511606.1:c.3364_3367del XP_011509908.1:p.Ser1122HisfsTer13
XM_011511607.1:c.3448_3451del XP_011509909.1:p.Ser1150HisfsTer13
XR_922981.1:n.3632_3635del
NM_001165963.2:c.3448_3451del NP_001159435.1:p.Ser1150HisfsTer13
NM_001165964.2:c.3364_3367del NP_001159436.1:p.Ser1122HisfsTer13
NM_001202435.2:c.3448_3451del NP_001189364.1:p.Ser1150HisfsTer13
NM_001353948.1:c.3448_3451del NP_001340877.1:p.Ser1150HisfsTer13
NM_001353949.1:c.3415_3418del NP_001340878.1:p.Ser1139HisfsTer13
NM_001353950.1:c.3415_3418del NP_001340879.1:p.Ser1139HisfsTer13
NM_001353951.1:c.3415_3418del NP_001340880.1:p.Ser1139HisfsTer13
NM_001353952.1:c.3415_3418del NP_001340881.1:p.Ser1139HisfsTer13
NM_001353954.1:c.3412_3415del NP_001340883.1:p.Ser1138HisfsTer13
NM_001353955.1:c.3412_3415del NP_001340884.1:p.Ser1138HisfsTer13
NM_001353957.1:c.3364_3367del NP_001340886.1:p.Ser1122HisfsTer13
NM_001353958.1:c.3364_3367del NP_001340887.1:p.Ser1122HisfsTer13
NM_001353960.1:c.3361_3364del NP_001340889.1:p.Ser1121HisfsTer13
NM_001353961.1:c.1006_1009del NP_001340890.1:p.Ser336HisfsTer13
NM_006920.5:c.3415_3418del NP_008851.3:p.Ser1139HisfsTer13
NR_148667.1:n.3820_3823del
XR_001738883.1:n.3834_3837del
XR_001738884.1:n.3806_3809del
NM_001165963.3:c.3448_3451del NP_001159435.1:p.Ser1150HisfsTer13
NM_001165964.3:c.3364_3367del NP_001159436.1:p.Ser1122HisfsTer13
NM_001202435.3:c.3448_3451del NP_001189364.1:p.Ser1150HisfsTer13
NM_001353948.2:c.3448_3451del NP_001340877.1:p.Ser1150HisfsTer13
NM_001353949.2:c.3415_3418del NP_001340878.1:p.Ser1139HisfsTer13
NM_001353950.2:c.3415_3418del NP_001340879.1:p.Ser1139HisfsTer13
NM_001353951.2:c.3415_3418del NP_001340880.1:p.Ser1139HisfsTer13
NM_001353952.2:c.3415_3418del NP_001340881.1:p.Ser1139HisfsTer13
NM_001353954.2:c.3412_3415del NP_001340883.1:p.Ser1138HisfsTer13
NM_001353955.2:c.3412_3415del NP_001340884.1:p.Ser1138HisfsTer13
NM_001353957.2:c.3364_3367del NP_001340886.1:p.Ser1122HisfsTer13
NM_001353958.2:c.3364_3367del NP_001340887.1:p.Ser1122HisfsTer13
NM_001353960.2:c.3361_3364del NP_001340889.1:p.Ser1121HisfsTer13
NM_001353961.2:c.1006_1009del NP_001340890.1:p.Ser336HisfsTer13
NM_006920.6:c.3415_3418del NP_008851.3:p.Ser1139HisfsTer13
NR_148667.2:n.3801_3804del
NM_001165963.4:c.3448_3451del MANE Select NP_001159435.1:p.Ser1150HisfsTer13