Canonical Allele Identifier: CA2586970318

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165999771_165999775delinsGGACAT , CM000664.2:g.165999771_165999775delinsGGACAT	GRCh38
NC_000002.11:g.166856281_166856285delinsGGACAT , CM000664.1:g.166856281_166856285delinsGGACAT	GRCh37
NC_000002.10:g.166564527_166564531delinsGGACAT	NCBI36
NG_011906.1:g.78865_78869delinsATGTCC , LRG_8:g.78865_78869delinsATGTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*2322_*2326delinsATGTCC	ENSP00000509637.1:n.*2322_*2326delinsATGT...
ENST00000303395.9:c.4286_4290delinsATGTCC	ENSP00000303540.4:p.Ala1429AspfsTer15
ENST00000635750.1:c.4253_4257delinsATGTCC	ENSP00000490799.1:p.Ala1418AspfsTer15
ENST00000635776.1:c.4253_4257delinsATGTCC	ENSP00000490692.1:p.Ala1418AspfsTer15
ENST00000635893.1:c.17_21delinsATGTCC	ENSP00000489986.1:p.Ala6AspfsTer15
ENST00000636194.1:c.*1779_*1783delinsATGTCC	ENSP00000490288.1:n.*1779_*1783delinsATGT...
ENST00000637038.1:c.1148_1152delinsATGTCC
ENST00000637988.1:c.4253_4257delinsATGTCC	ENSP00000490780.1:p.Ala1418AspfsTer15
ENST00000640036.1:c.4253_4257delinsATGTCC	ENSP00000491573.1:p.Ala1418AspfsTer15
ENST00000641575.1:c.4250_4254delinsATGTCC	ENSP00000492917.1:p.Ala1417AspfsTer15
ENST00000641603.1:c.4004_4008delinsATGTCC	ENSP00000492945.1:p.Ala1335AspfsTer15
ENST00000641996.1:c.*3840_*3844delinsATGTCC	ENSP00000493054.1:n.*3840_*3844delinsATGT...
ENST00000671940.1:c.*2229_*2233delinsATGTCC	ENSP00000500336.1:n.*2229_*2233delinsATGT...
ENST00000673490.1:n.6759_6763delinsATGTCC
ENST00000674923.1:c.4286_4290delinsATGTCC MANE Select	ENSP00000501589.1:p.Ala1429AspfsTer15
ENST00000303395.8:c.4286_4290delinsATGTCC	ENSP00000303540.4:p.Ala1429AspfsTer15
ENST00000375405.7:c.4253_4257delinsATGTCC	ENSP00000364554.3:p.Ala1418AspfsTer15
ENST00000409050.1:c.4202_4206delinsATGTCC	ENSP00000386312.1:p.Ala1401AspfsTer15
ENST00000423058.6:c.4286_4290delinsATGTCC	ENSP00000407030.2:p.Ala1429AspfsTer15
ENST00000473295.2:n.289_293delinsATGTCC
ENST00000491429.1:n.439_443delinsATGTCC
NM_001165963.1:c.4286_4290delinsATGTCC	NP_001159435.1:p.Ala1429AspfsTer15
NM_001165964.1:c.4202_4206delinsATGTCC	NP_001159436.1:p.Ala1401AspfsTer15
NM_001202435.1:c.4286_4290delinsATGTCC	NP_001189364.1:p.Ala1429AspfsTer15
NM_006920.4:c.4253_4257delinsATGTCC , LRG_8t1:c.4253_4257delinsATGTCC	NP_008851.3:p.Ala1418AspfsTer15
NR_110598.1:n.176-15842_176-15838delinsGGACAT
XM_011511598.1:c.4286_4290delinsATGTCC	XP_011509900.1:p.Ala1429AspfsTer15
XM_011511599.1:c.4286_4290delinsATGTCC	XP_011509901.1:p.Ala1429AspfsTer15
XM_011511600.1:c.4286_4290delinsATGTCC	XP_011509902.1:p.Ala1429AspfsTer15
XM_011511601.1:c.4286_4290delinsATGTCC	XP_011509903.1:p.Ala1429AspfsTer15
XM_011511602.1:c.4286_4290delinsATGTCC	XP_011509904.1:p.Ala1429AspfsTer15
XM_011511603.1:c.4283_4287delinsATGTCC	XP_011509905.1:p.Ala1428AspfsTer15
XM_011511604.1:c.4253_4257delinsATGTCC	XP_011509906.1:p.Ala1418AspfsTer15
XM_011511605.1:c.4250_4254delinsATGTCC	XP_011509907.1:p.Ala1417AspfsTer15
XM_011511606.1:c.4202_4206delinsATGTCC	XP_011509908.1:p.Ala1401AspfsTer15
XM_011511607.1:c.4004_4008delinsATGTCC	XP_011509909.1:p.Ala1335AspfsTer15
XR_922981.1:n.4534_4538delinsATGTCC
NM_001165963.2:c.4286_4290delinsATGTCC	NP_001159435.1:p.Ala1429AspfsTer15
NM_001165964.2:c.4202_4206delinsATGTCC	NP_001159436.1:p.Ala1401AspfsTer15
NM_001202435.2:c.4286_4290delinsATGTCC	NP_001189364.1:p.Ala1429AspfsTer15
NM_001353948.1:c.4286_4290delinsATGTCC	NP_001340877.1:p.Ala1429AspfsTer15
NM_001353949.1:c.4253_4257delinsATGTCC	NP_001340878.1:p.Ala1418AspfsTer15
NM_001353950.1:c.4253_4257delinsATGTCC	NP_001340879.1:p.Ala1418AspfsTer15
NM_001353951.1:c.4253_4257delinsATGTCC	NP_001340880.1:p.Ala1418AspfsTer15
NM_001353952.1:c.4253_4257delinsATGTCC	NP_001340881.1:p.Ala1418AspfsTer15
NM_001353954.1:c.4250_4254delinsATGTCC	NP_001340883.1:p.Ala1417AspfsTer15
NM_001353955.1:c.4250_4254delinsATGTCC	NP_001340884.1:p.Ala1417AspfsTer15
NM_001353957.1:c.4202_4206delinsATGTCC	NP_001340886.1:p.Ala1401AspfsTer15
NM_001353958.1:c.4202_4206delinsATGTCC	NP_001340887.1:p.Ala1401AspfsTer15
NM_001353960.1:c.4199_4203delinsATGTCC	NP_001340889.1:p.Ala1400AspfsTer15
NM_001353961.1:c.1844_1848delinsATGTCC	NP_001340890.1:p.Ala615AspfsTer15
NM_006920.5:c.4253_4257delinsATGTCC	NP_008851.3:p.Ala1418AspfsTer15
NR_148667.1:n.4722_4726delinsATGTCC
XR_001738883.1:n.4736_4740delinsATGTCC
XR_001738884.1:n.4708_4712delinsATGTCC
NM_001165963.3:c.4286_4290delinsATGTCC	NP_001159435.1:p.Ala1429AspfsTer15
NM_001165964.3:c.4202_4206delinsATGTCC	NP_001159436.1:p.Ala1401AspfsTer15
NM_001202435.3:c.4286_4290delinsATGTCC	NP_001189364.1:p.Ala1429AspfsTer15
NM_001353948.2:c.4286_4290delinsATGTCC	NP_001340877.1:p.Ala1429AspfsTer15
NM_001353949.2:c.4253_4257delinsATGTCC	NP_001340878.1:p.Ala1418AspfsTer15
NM_001353950.2:c.4253_4257delinsATGTCC	NP_001340879.1:p.Ala1418AspfsTer15
NM_001353951.2:c.4253_4257delinsATGTCC	NP_001340880.1:p.Ala1418AspfsTer15
NM_001353952.2:c.4253_4257delinsATGTCC	NP_001340881.1:p.Ala1418AspfsTer15
NM_001353954.2:c.4250_4254delinsATGTCC	NP_001340883.1:p.Ala1417AspfsTer15
NM_001353955.2:c.4250_4254delinsATGTCC	NP_001340884.1:p.Ala1417AspfsTer15
NM_001353957.2:c.4202_4206delinsATGTCC	NP_001340886.1:p.Ala1401AspfsTer15
NM_001353958.2:c.4202_4206delinsATGTCC	NP_001340887.1:p.Ala1401AspfsTer15
NM_001353960.2:c.4199_4203delinsATGTCC	NP_001340889.1:p.Ala1400AspfsTer15
NM_001353961.2:c.1844_1848delinsATGTCC	NP_001340890.1:p.Ala615AspfsTer15
NM_006920.6:c.4253_4257delinsATGTCC	NP_008851.3:p.Ala1418AspfsTer15
NR_148667.2:n.4703_4707delinsATGTCC
NM_001165963.4:c.4286_4290delinsATGTCC MANE Select	NP_001159435.1:p.Ala1429AspfsTer15