Canonical Allele Identifier: CA1304847226

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166009618_166009630delinsATTTGCCATTCCT , CM000664.2:g.166009618_166009630delinsATTTGCCATTCCT	GRCh38
NC_000002.11:g.166866128_166866140delinsATTTGCCATTCCT , CM000664.1:g.166866128_166866140delinsATTTGCCATTCCT	GRCh37
NC_000002.10:g.166574374_166574386delinsATTTGCCATTCCT	NCBI36
NG_011906.1:g.69010_69022delinsAGGAATGGCAAAT , LRG_8:g.69010_69022delinsAGGAATGGCAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*2038+89_*2038+101delinsAGGAATGGCAAAT	ENSP00000509637.1:n.*2038+89_*2038+101delinsAGGAATGGCAAAT
ENST00000303395.9:c.4002+89_4002+101delinsAGGAATGGCAAAT	ENSP00000303540.4:n.4002+89_4002+101delinsAGGAATGGCAAAT
ENST00000635750.1:c.3969+89_3969+101delinsAGGAATGGCAAAT	ENSP00000490799.1:n.3969+89_3969+101delinsAGGAATGGCAAAT
ENST00000635776.1:c.3969+89_3969+101delinsAGGAATGGCAAAT	ENSP00000490692.1:n.3969+89_3969+101delinsAGGAATGGCAAAT
ENST00000636194.1:c.*1495+89_*1495+101delinsAGGAATGGCAAAT	ENSP00000490288.1:n.*1495+89_*1495+101delinsAGGAATGGCAAAT
ENST00000637038.1:c.800+89_800+101delinsAGGAATGGCAAAT
ENST00000637968.1:n.4343_4355delinsAGGAATGGCAAAT
ENST00000637988.1:c.3969+89_3969+101delinsAGGAATGGCAAAT	ENSP00000490780.1:n.3969+89_3969+101delinsAGGAATGGCAAAT
ENST00000640036.1:c.3969+89_3969+101delinsAGGAATGGCAAAT	ENSP00000491573.1:n.3969+89_3969+101delinsAGGAATGGCAAAT
ENST00000641575.1:c.3966+89_3966+101delinsAGGAATGGCAAAT	ENSP00000492917.1:n.3966+89_3966+101delinsAGGAATGGCAAAT
ENST00000641603.1:c.4002+89_4002+101delinsAGGAATGGCAAAT	ENSP00000492945.1:n.4002+89_4002+101delinsAGGAATGGCAAAT
ENST00000641996.1:c.*3556+89_*3556+101delinsAGGAATGGCAAAT	ENSP00000493054.1:n.*3556+89_*3556+101delinsAGGAATGGCAAAT
ENST00000671940.1:c.*1945+89_*1945+101delinsAGGAATGGCAAAT	ENSP00000500336.1:n.*1945+89_*1945+101delinsAGGAATGGCAAAT
ENST00000673490.1:n.6475+89_6475+101delinsAGGAATGGCAAAT
ENST00000674923.1:c.4002+89_4002+101delinsAGGAATGGCAAAT MANE Select	ENSP00000501589.1:n.4002+89_4002+101delinsAGGAATGGCAAAT
ENST00000303395.8:c.4002+89_4002+101delinsAGGAATGGCAAAT	ENSP00000303540.4:n.4002+89_4002+101delinsAGGAATGGCAAAT
ENST00000375405.7:c.3969+89_3969+101delinsAGGAATGGCAAAT	ENSP00000364554.3:n.3969+89_3969+101delinsAGGAATGGCAAAT
ENST00000409050.1:c.3918+89_3918+101delinsAGGAATGGCAAAT	ENSP00000386312.1:n.3918+89_3918+101delinsAGGAATGGCAAAT
ENST00000423058.6:c.4002+89_4002+101delinsAGGAATGGCAAAT	ENSP00000407030.2:n.4002+89_4002+101delinsAGGAATGGCAAAT
NM_001165963.1:c.4002+89_4002+101delinsAGGAATGGCAAAT	NP_001159435.1:n.4002+89_4002+101delinsAGGAATGGCAAAT
NM_001165964.1:c.3918+89_3918+101delinsAGGAATGGCAAAT	NP_001159436.1:n.3918+89_3918+101delinsAGGAATGGCAAAT
NM_001202435.1:c.4002+89_4002+101delinsAGGAATGGCAAAT	NP_001189364.1:n.4002+89_4002+101delinsAGGAATGGCAAAT
NM_006920.4:c.3969+89_3969+101delinsAGGAATGGCAAAT , LRG_8t1:c.3969+89_3969+101delinsAGGAATGGCAAAT	NP_008851.3:n.3969+89_3969+101delinsAGGAATGGCAAAT
NR_110598.1:n.176-5995_176-5983delinsATTTGCCATTCCT
XM_011511598.1:c.4002+89_4002+101delinsAGGAATGGCAAAT	XP_011509900.1:n.4002+89_4002+101delinsAGGAATGGCAAAT
XM_011511599.1:c.4002+89_4002+101delinsAGGAATGGCAAAT	XP_011509901.1:n.4002+89_4002+101delinsAGGAATGGCAAAT
XM_011511600.1:c.4002+89_4002+101delinsAGGAATGGCAAAT	XP_011509902.1:n.4002+89_4002+101delinsAGGAATGGCAAAT
XM_011511601.1:c.4002+89_4002+101delinsAGGAATGGCAAAT	XP_011509903.1:n.4002+89_4002+101delinsAGGAATGGCAAAT
XM_011511602.1:c.4002+89_4002+101delinsAGGAATGGCAAAT	XP_011509904.1:n.4002+89_4002+101delinsAGGAATGGCAAAT
XM_011511603.1:c.3999+89_3999+101delinsAGGAATGGCAAAT	XP_011509905.1:n.3999+89_3999+101delinsAGGAATGGCAAAT
XM_011511604.1:c.3969+89_3969+101delinsAGGAATGGCAAAT	XP_011509906.1:n.3969+89_3969+101delinsAGGAATGGCAAAT
XM_011511605.1:c.3966+89_3966+101delinsAGGAATGGCAAAT	XP_011509907.1:n.3966+89_3966+101delinsAGGAATGGCAAAT
XM_011511606.1:c.3918+89_3918+101delinsAGGAATGGCAAAT	XP_011509908.1:n.3918+89_3918+101delinsAGGAATGGCAAAT
XM_011511607.1:c.4002+89_4002+101delinsAGGAATGGCAAAT	XP_011509909.1:n.4002+89_4002+101delinsAGGAATGGCAAAT
XR_922981.1:n.4186+89_4186+101delinsAGGAATGGCAAAT
NM_001165963.2:c.4002+89_4002+101delinsAGGAATGGCAAAT	NP_001159435.1:n.4002+89_4002+101delinsAGGAATGGCAAAT
NM_001165964.2:c.3918+89_3918+101delinsAGGAATGGCAAAT	NP_001159436.1:n.3918+89_3918+101delinsAGGAATGGCAAAT
NM_001202435.2:c.4002+89_4002+101delinsAGGAATGGCAAAT	NP_001189364.1:n.4002+89_4002+101delinsAGGAATGGCAAAT
NM_001353948.1:c.4002+89_4002+101delinsAGGAATGGCAAAT	NP_001340877.1:n.4002+89_4002+101delinsAGGAATGGCAAAT
NM_001353949.1:c.3969+89_3969+101delinsAGGAATGGCAAAT	NP_001340878.1:n.3969+89_3969+101delinsAGGAATGGCAAAT
NM_001353950.1:c.3969+89_3969+101delinsAGGAATGGCAAAT	NP_001340879.1:n.3969+89_3969+101delinsAGGAATGGCAAAT
NM_001353951.1:c.3969+89_3969+101delinsAGGAATGGCAAAT	NP_001340880.1:n.3969+89_3969+101delinsAGGAATGGCAAAT
NM_001353952.1:c.3969+89_3969+101delinsAGGAATGGCAAAT	NP_001340881.1:n.3969+89_3969+101delinsAGGAATGGCAAAT
NM_001353954.1:c.3966+89_3966+101delinsAGGAATGGCAAAT	NP_001340883.1:n.3966+89_3966+101delinsAGGAATGGCAAAT
NM_001353955.1:c.3966+89_3966+101delinsAGGAATGGCAAAT	NP_001340884.1:n.3966+89_3966+101delinsAGGAATGGCAAAT
NM_001353957.1:c.3918+89_3918+101delinsAGGAATGGCAAAT	NP_001340886.1:n.3918+89_3918+101delinsAGGAATGGCAAAT
NM_001353958.1:c.3918+89_3918+101delinsAGGAATGGCAAAT	NP_001340887.1:n.3918+89_3918+101delinsAGGAATGGCAAAT
NM_001353960.1:c.3915+89_3915+101delinsAGGAATGGCAAAT	NP_001340889.1:n.3915+89_3915+101delinsAGGAATGGCAAAT
NM_001353961.1:c.1560+89_1560+101delinsAGGAATGGCAAAT	NP_001340890.1:n.1560+89_1560+101delinsAGGAATGGCAAAT
NM_006920.5:c.3969+89_3969+101delinsAGGAATGGCAAAT	NP_008851.3:n.3969+89_3969+101delinsAGGAATGGCAAAT
NR_148667.1:n.4374+89_4374+101delinsAGGAATGGCAAAT
XR_001738883.1:n.4388+89_4388+101delinsAGGAATGGCAAAT
XR_001738884.1:n.4360+89_4360+101delinsAGGAATGGCAAAT
NM_001165963.3:c.4002+89_4002+101delinsAGGAATGGCAAAT	NP_001159435.1:n.4002+89_4002+101delinsAGGAATGGCAAAT
NM_001165964.3:c.3918+89_3918+101delinsAGGAATGGCAAAT	NP_001159436.1:n.3918+89_3918+101delinsAGGAATGGCAAAT
NM_001202435.3:c.4002+89_4002+101delinsAGGAATGGCAAAT	NP_001189364.1:n.4002+89_4002+101delinsAGGAATGGCAAAT
NM_001353948.2:c.4002+89_4002+101delinsAGGAATGGCAAAT	NP_001340877.1:n.4002+89_4002+101delinsAGGAATGGCAAAT
NM_001353949.2:c.3969+89_3969+101delinsAGGAATGGCAAAT	NP_001340878.1:n.3969+89_3969+101delinsAGGAATGGCAAAT
NM_001353950.2:c.3969+89_3969+101delinsAGGAATGGCAAAT	NP_001340879.1:n.3969+89_3969+101delinsAGGAATGGCAAAT
NM_001353951.2:c.3969+89_3969+101delinsAGGAATGGCAAAT	NP_001340880.1:n.3969+89_3969+101delinsAGGAATGGCAAAT
NM_001353952.2:c.3969+89_3969+101delinsAGGAATGGCAAAT	NP_001340881.1:n.3969+89_3969+101delinsAGGAATGGCAAAT
NM_001353954.2:c.3966+89_3966+101delinsAGGAATGGCAAAT	NP_001340883.1:n.3966+89_3966+101delinsAGGAATGGCAAAT
NM_001353955.2:c.3966+89_3966+101delinsAGGAATGGCAAAT	NP_001340884.1:n.3966+89_3966+101delinsAGGAATGGCAAAT
NM_001353957.2:c.3918+89_3918+101delinsAGGAATGGCAAAT	NP_001340886.1:n.3918+89_3918+101delinsAGGAATGGCAAAT
NM_001353958.2:c.3918+89_3918+101delinsAGGAATGGCAAAT	NP_001340887.1:n.3918+89_3918+101delinsAGGAATGGCAAAT
NM_001353960.2:c.3915+89_3915+101delinsAGGAATGGCAAAT	NP_001340889.1:n.3915+89_3915+101delinsAGGAATGGCAAAT
NM_001353961.2:c.1560+89_1560+101delinsAGGAATGGCAAAT	NP_001340890.1:n.1560+89_1560+101delinsAGGAATGGCAAAT
NM_006920.6:c.3969+89_3969+101delinsAGGAATGGCAAAT	NP_008851.3:n.3969+89_3969+101delinsAGGAATGGCAAAT
NR_148667.2:n.4355+89_4355+101delinsAGGAATGGCAAAT
NM_001165963.4:c.4002+89_4002+101delinsAGGAATGGCAAAT MANE Select	NP_001159435.1:n.4002+89_4002+101delinsAGGAATGGCAAAT