Canonical Allele Identifier: CA2558454125

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166012155_166012156insCTGACAAGG , CM000664.2:g.166012155_166012156insCTGACAAGG	GRCh38
NC_000002.11:g.166868665_166868666insCTGACAAGG , CM000664.1:g.166868665_166868666insCTGACAAGG	GRCh37
NC_000002.10:g.166576911_166576912insCTGACAAGG	NCBI36
NG_011906.1:g.66485_66486insCTTGTCAGC , LRG_8:g.66485_66486insCTTGTCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*1869_*1870insCTTGTCAGC	ENSP00000509637.1:n.*1869_*1870insCTTGTCAGC
ENST00000303395.9:c.3833_3834insCTTGTCAGC	ENSP00000303540.4:p.Thr1278_Tyr1279insLeuSerAla
ENST00000635750.1:c.3800_3801insCTTGTCAGC	ENSP00000490799.1:p.Thr1267_Tyr1268insLeuSerAla
ENST00000635776.1:c.3800_3801insCTTGTCAGC	ENSP00000490692.1:p.Thr1267_Tyr1268insLeuSerAla
ENST00000636194.1:c.*1326_*1327insCTTGTCAGC	ENSP00000490288.1:n.*1326_*1327insCTTGTCAGC
ENST00000637038.1:c.631_632insCTTGTCAGC
ENST00000637968.1:n.4085_4086insCTTGTCAGC
ENST00000637988.1:c.3800_3801insCTTGTCAGC	ENSP00000490780.1:p.Thr1267_Tyr1268insLeuSerAla
ENST00000640036.1:c.3800_3801insCTTGTCAGC	ENSP00000491573.1:p.Thr1267_Tyr1268insLeuSerAla
ENST00000641575.1:c.3797_3798insCTTGTCAGC	ENSP00000492917.1:p.Thr1266_Tyr1267insLeuSerAla
ENST00000641603.1:c.3833_3834insCTTGTCAGC	ENSP00000492945.1:p.Thr1278_Tyr1279insLeuSerAla
ENST00000641996.1:c.*3387_*3388insCTTGTCAGC	ENSP00000493054.1:n.*3387_*3388insCTTGTCAGC
ENST00000671940.1:c.*1776_*1777insCTTGTCAGC	ENSP00000500336.1:n.*1776_*1777insCTTGTCAGC
ENST00000673490.1:n.6306_6307insCTTGTCAGC
ENST00000674923.1:c.3833_3834insCTTGTCAGC MANE Select	ENSP00000501589.1:p.Thr1278_Tyr1279insLeuSerAla
ENST00000303395.8:c.3833_3834insCTTGTCAGC	ENSP00000303540.4:p.Thr1278_Tyr1279insLeuSerAla
ENST00000375405.7:c.3800_3801insCTTGTCAGC	ENSP00000364554.3:p.Thr1267_Tyr1268insLeuSerAla
ENST00000409050.1:c.3749_3750insCTTGTCAGC	ENSP00000386312.1:p.Thr1250_Tyr1251insLeuSerAla
ENST00000423058.6:c.3833_3834insCTTGTCAGC	ENSP00000407030.2:p.Thr1278_Tyr1279insLeuSerAla
NM_001165963.1:c.3833_3834insCTTGTCAGC	NP_001159435.1:p.Thr1278_Tyr1279insLeuSerAla
NM_001165964.1:c.3749_3750insCTTGTCAGC	NP_001159436.1:p.Thr1250_Tyr1251insLeuSerAla
NM_001202435.1:c.3833_3834insCTTGTCAGC	NP_001189364.1:p.Thr1278_Tyr1279insLeuSerAla
NM_006920.4:c.3800_3801insCTTGTCAGC , LRG_8t1:c.3800_3801insCTTGTCAGC	NP_008851.3:p.Thr1267_Tyr1268insLeuSerAla
NR_110598.1:n.176-3458_176-3457insCTGACAAGG
XM_011511598.1:c.3833_3834insCTTGTCAGC	XP_011509900.1:p.Thr1278_Tyr1279insLeuSerAla
XM_011511599.1:c.3833_3834insCTTGTCAGC	XP_011509901.1:p.Thr1278_Tyr1279insLeuSerAla
XM_011511600.1:c.3833_3834insCTTGTCAGC	XP_011509902.1:p.Thr1278_Tyr1279insLeuSerAla
XM_011511601.1:c.3833_3834insCTTGTCAGC	XP_011509903.1:p.Thr1278_Tyr1279insLeuSerAla
XM_011511602.1:c.3833_3834insCTTGTCAGC	XP_011509904.1:p.Thr1278_Tyr1279insLeuSerAla
XM_011511603.1:c.3830_3831insCTTGTCAGC	XP_011509905.1:p.Thr1277_Tyr1278insLeuSerAla
XM_011511604.1:c.3800_3801insCTTGTCAGC	XP_011509906.1:p.Thr1267_Tyr1268insLeuSerAla
XM_011511605.1:c.3797_3798insCTTGTCAGC	XP_011509907.1:p.Thr1266_Tyr1267insLeuSerAla
XM_011511606.1:c.3749_3750insCTTGTCAGC	XP_011509908.1:p.Thr1250_Tyr1251insLeuSerAla
XM_011511607.1:c.3833_3834insCTTGTCAGC	XP_011509909.1:p.Thr1278_Tyr1279insLeuSerAla
XR_922981.1:n.4017_4018insCTTGTCAGC
NM_001165963.2:c.3833_3834insCTTGTCAGC	NP_001159435.1:p.Thr1278_Tyr1279insLeuSerAla
NM_001165964.2:c.3749_3750insCTTGTCAGC	NP_001159436.1:p.Thr1250_Tyr1251insLeuSerAla
NM_001202435.2:c.3833_3834insCTTGTCAGC	NP_001189364.1:p.Thr1278_Tyr1279insLeuSerAla
NM_001353948.1:c.3833_3834insCTTGTCAGC	NP_001340877.1:p.Thr1278_Tyr1279insLeuSerAla
NM_001353949.1:c.3800_3801insCTTGTCAGC	NP_001340878.1:p.Thr1267_Tyr1268insLeuSerAla
NM_001353950.1:c.3800_3801insCTTGTCAGC	NP_001340879.1:p.Thr1267_Tyr1268insLeuSerAla
NM_001353951.1:c.3800_3801insCTTGTCAGC	NP_001340880.1:p.Thr1267_Tyr1268insLeuSerAla
NM_001353952.1:c.3800_3801insCTTGTCAGC	NP_001340881.1:p.Thr1267_Tyr1268insLeuSerAla
NM_001353954.1:c.3797_3798insCTTGTCAGC	NP_001340883.1:p.Thr1266_Tyr1267insLeuSerAla
NM_001353955.1:c.3797_3798insCTTGTCAGC	NP_001340884.1:p.Thr1266_Tyr1267insLeuSerAla
NM_001353957.1:c.3749_3750insCTTGTCAGC	NP_001340886.1:p.Thr1250_Tyr1251insLeuSerAla
NM_001353958.1:c.3749_3750insCTTGTCAGC	NP_001340887.1:p.Thr1250_Tyr1251insLeuSerAla
NM_001353960.1:c.3746_3747insCTTGTCAGC	NP_001340889.1:p.Thr1249_Tyr1250insLeuSerAla
NM_001353961.1:c.1391_1392insCTTGTCAGC	NP_001340890.1:p.Thr464_Tyr465insLeuSerAla
NM_006920.5:c.3800_3801insCTTGTCAGC	NP_008851.3:p.Thr1267_Tyr1268insLeuSerAla
NR_148667.1:n.4205_4206insCTTGTCAGC
XR_001738883.1:n.4219_4220insCTTGTCAGC
XR_001738884.1:n.4191_4192insCTTGTCAGC
NM_001165963.3:c.3833_3834insCTTGTCAGC	NP_001159435.1:p.Thr1278_Tyr1279insLeuSerAla
NM_001165964.3:c.3749_3750insCTTGTCAGC	NP_001159436.1:p.Thr1250_Tyr1251insLeuSerAla
NM_001202435.3:c.3833_3834insCTTGTCAGC	NP_001189364.1:p.Thr1278_Tyr1279insLeuSerAla
NM_001353948.2:c.3833_3834insCTTGTCAGC	NP_001340877.1:p.Thr1278_Tyr1279insLeuSerAla
NM_001353949.2:c.3800_3801insCTTGTCAGC	NP_001340878.1:p.Thr1267_Tyr1268insLeuSerAla
NM_001353950.2:c.3800_3801insCTTGTCAGC	NP_001340879.1:p.Thr1267_Tyr1268insLeuSerAla
NM_001353951.2:c.3800_3801insCTTGTCAGC	NP_001340880.1:p.Thr1267_Tyr1268insLeuSerAla
NM_001353952.2:c.3800_3801insCTTGTCAGC	NP_001340881.1:p.Thr1267_Tyr1268insLeuSerAla
NM_001353954.2:c.3797_3798insCTTGTCAGC	NP_001340883.1:p.Thr1266_Tyr1267insLeuSerAla
NM_001353955.2:c.3797_3798insCTTGTCAGC	NP_001340884.1:p.Thr1266_Tyr1267insLeuSerAla
NM_001353957.2:c.3749_3750insCTTGTCAGC	NP_001340886.1:p.Thr1250_Tyr1251insLeuSerAla
NM_001353958.2:c.3749_3750insCTTGTCAGC	NP_001340887.1:p.Thr1250_Tyr1251insLeuSerAla
NM_001353960.2:c.3746_3747insCTTGTCAGC	NP_001340889.1:p.Thr1249_Tyr1250insLeuSerAla
NM_001353961.2:c.1391_1392insCTTGTCAGC	NP_001340890.1:p.Thr464_Tyr465insLeuSerAla
NM_006920.6:c.3800_3801insCTTGTCAGC	NP_008851.3:p.Thr1267_Tyr1268insLeuSerAla
NR_148667.2:n.4186_4187insCTTGTCAGC
NM_001165963.4:c.3833_3834insCTTGTCAGC MANE Select	NP_001159435.1:p.Thr1278_Tyr1279insLeuSerAla