Canonical Allele Identifier: CA2586965133

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166015715_166015718delinsAAGCA , CM000664.2:g.166015715_166015718delinsAAGCA	GRCh38
NC_000002.11:g.166872225_166872228delinsAAGCA , CM000664.1:g.166872225_166872228delinsAAGCA	GRCh37
NC_000002.10:g.166580471_166580474delinsAAGCA	NCBI36
NG_011906.1:g.62922_62925delinsTGCTT , LRG_8:g.62922_62925delinsTGCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*1475_*1478delinsTGCTT	ENSP00000509637.1:n.*1475_*1478delinsTGCT...
ENST00000303395.9:c.3439_3442delinsTGCTT	ENSP00000303540.4:p.Glu1147CysfsTer4
ENST00000635750.1:c.3406_3409delinsTGCTT	ENSP00000490799.1:p.Glu1136CysfsTer4
ENST00000635776.1:c.3406_3409delinsTGCTT	ENSP00000490692.1:p.Glu1136CysfsTer4
ENST00000636194.1:c.*932_*935delinsTGCTT	ENSP00000490288.1:n.*932_*935delinsTGCTT
ENST00000637038.1:c.237_240delinsTGCTT
ENST00000637968.1:n.3691_3694delinsTGCTT
ENST00000637988.1:c.3406_3409delinsTGCTT	ENSP00000490780.1:p.Glu1136CysfsTer4
ENST00000640036.1:c.3406_3409delinsTGCTT	ENSP00000491573.1:p.Glu1136CysfsTer4
ENST00000641575.1:c.3403_3406delinsTGCTT	ENSP00000492917.1:p.Glu1135CysfsTer4
ENST00000641603.1:c.3439_3442delinsTGCTT	ENSP00000492945.1:p.Glu1147CysfsTer4
ENST00000641996.1:c.*2993_*2996delinsTGCTT	ENSP00000493054.1:n.*2993_*2996delinsTGCT...
ENST00000671940.1:c.*1382_*1385delinsTGCTT	ENSP00000500336.1:n.*1382_*1385delinsTGCT...
ENST00000673490.1:n.5912_5915delinsTGCTT
ENST00000674923.1:c.3439_3442delinsTGCTT MANE Select	ENSP00000501589.1:p.Glu1147CysfsTer4
ENST00000303395.8:c.3439_3442delinsTGCTT	ENSP00000303540.4:p.Glu1147CysfsTer4
ENST00000375405.7:c.3406_3409delinsTGCTT	ENSP00000364554.3:p.Glu1136CysfsTer4
ENST00000409050.1:c.3355_3358delinsTGCTT	ENSP00000386312.1:p.Glu1119CysfsTer4
ENST00000423058.6:c.3439_3442delinsTGCTT	ENSP00000407030.2:p.Glu1147CysfsTer4
NM_001165963.1:c.3439_3442delinsTGCTT	NP_001159435.1:p.Glu1147CysfsTer4
NM_001165964.1:c.3355_3358delinsTGCTT	NP_001159436.1:p.Glu1119CysfsTer4
NM_001202435.1:c.3439_3442delinsTGCTT	NP_001189364.1:p.Glu1147CysfsTer4
NM_006920.4:c.3406_3409delinsTGCTT , LRG_8t1:c.3406_3409delinsTGCTT	NP_008851.3:p.Glu1136CysfsTer4
NR_110598.1:n.278_281delinsAAGCA
XM_011511598.1:c.3439_3442delinsTGCTT	XP_011509900.1:p.Glu1147CysfsTer4
XM_011511599.1:c.3439_3442delinsTGCTT	XP_011509901.1:p.Glu1147CysfsTer4
XM_011511600.1:c.3439_3442delinsTGCTT	XP_011509902.1:p.Glu1147CysfsTer4
XM_011511601.1:c.3439_3442delinsTGCTT	XP_011509903.1:p.Glu1147CysfsTer4
XM_011511602.1:c.3439_3442delinsTGCTT	XP_011509904.1:p.Glu1147CysfsTer4
XM_011511603.1:c.3436_3439delinsTGCTT	XP_011509905.1:p.Glu1146CysfsTer4
XM_011511604.1:c.3406_3409delinsTGCTT	XP_011509906.1:p.Glu1136CysfsTer4
XM_011511605.1:c.3403_3406delinsTGCTT	XP_011509907.1:p.Glu1135CysfsTer4
XM_011511606.1:c.3355_3358delinsTGCTT	XP_011509908.1:p.Glu1119CysfsTer4
XM_011511607.1:c.3439_3442delinsTGCTT	XP_011509909.1:p.Glu1147CysfsTer4
XR_922981.1:n.3623_3626delinsTGCTT
NM_001165963.2:c.3439_3442delinsTGCTT	NP_001159435.1:p.Glu1147CysfsTer4
NM_001165964.2:c.3355_3358delinsTGCTT	NP_001159436.1:p.Glu1119CysfsTer4
NM_001202435.2:c.3439_3442delinsTGCTT	NP_001189364.1:p.Glu1147CysfsTer4
NM_001353948.1:c.3439_3442delinsTGCTT	NP_001340877.1:p.Glu1147CysfsTer4
NM_001353949.1:c.3406_3409delinsTGCTT	NP_001340878.1:p.Glu1136CysfsTer4
NM_001353950.1:c.3406_3409delinsTGCTT	NP_001340879.1:p.Glu1136CysfsTer4
NM_001353951.1:c.3406_3409delinsTGCTT	NP_001340880.1:p.Glu1136CysfsTer4
NM_001353952.1:c.3406_3409delinsTGCTT	NP_001340881.1:p.Glu1136CysfsTer4
NM_001353954.1:c.3403_3406delinsTGCTT	NP_001340883.1:p.Glu1135CysfsTer4
NM_001353955.1:c.3403_3406delinsTGCTT	NP_001340884.1:p.Glu1135CysfsTer4
NM_001353957.1:c.3355_3358delinsTGCTT	NP_001340886.1:p.Glu1119CysfsTer4
NM_001353958.1:c.3355_3358delinsTGCTT	NP_001340887.1:p.Glu1119CysfsTer4
NM_001353960.1:c.3352_3355delinsTGCTT	NP_001340889.1:p.Glu1118CysfsTer4
NM_001353961.1:c.997_1000delinsTGCTT	NP_001340890.1:p.Glu333CysfsTer4
NM_006920.5:c.3406_3409delinsTGCTT	NP_008851.3:p.Glu1136CysfsTer4
NR_148667.1:n.3811_3814delinsTGCTT
XR_001738883.1:n.3825_3828delinsTGCTT
XR_001738884.1:n.3797_3800delinsTGCTT
NM_001165963.3:c.3439_3442delinsTGCTT	NP_001159435.1:p.Glu1147CysfsTer4
NM_001165964.3:c.3355_3358delinsTGCTT	NP_001159436.1:p.Glu1119CysfsTer4
NM_001202435.3:c.3439_3442delinsTGCTT	NP_001189364.1:p.Glu1147CysfsTer4
NM_001353948.2:c.3439_3442delinsTGCTT	NP_001340877.1:p.Glu1147CysfsTer4
NM_001353949.2:c.3406_3409delinsTGCTT	NP_001340878.1:p.Glu1136CysfsTer4
NM_001353950.2:c.3406_3409delinsTGCTT	NP_001340879.1:p.Glu1136CysfsTer4
NM_001353951.2:c.3406_3409delinsTGCTT	NP_001340880.1:p.Glu1136CysfsTer4
NM_001353952.2:c.3406_3409delinsTGCTT	NP_001340881.1:p.Glu1136CysfsTer4
NM_001353954.2:c.3403_3406delinsTGCTT	NP_001340883.1:p.Glu1135CysfsTer4
NM_001353955.2:c.3403_3406delinsTGCTT	NP_001340884.1:p.Glu1135CysfsTer4
NM_001353957.2:c.3355_3358delinsTGCTT	NP_001340886.1:p.Glu1119CysfsTer4
NM_001353958.2:c.3355_3358delinsTGCTT	NP_001340887.1:p.Glu1119CysfsTer4
NM_001353960.2:c.3352_3355delinsTGCTT	NP_001340889.1:p.Glu1118CysfsTer4
NM_001353961.2:c.997_1000delinsTGCTT	NP_001340890.1:p.Glu333CysfsTer4
NM_006920.6:c.3406_3409delinsTGCTT	NP_008851.3:p.Glu1136CysfsTer4
NR_148667.2:n.3792_3795delinsTGCTT
NM_001165963.4:c.3439_3442delinsTGCTT MANE Select	NP_001159435.1:p.Glu1147CysfsTer4