Canonical Allele Identifier: CA2586970349

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165992291_165992295del , CM000664.2:g.165992291_165992295del	GRCh38
NC_000002.11:g.166848801_166848805del , CM000664.1:g.166848801_166848805del	GRCh37
NC_000002.10:g.166557047_166557051del	NCBI36
NG_011906.1:g.86350_86354del , LRG_8:g.86350_86354del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*3021_*3025del	ENSP00000509637.1:n.*3021_*3025del
ENST00000303395.9:c.4985_4989del	ENSP00000303540.4:p.Ala1662AspfsTer9
ENST00000635750.1:c.4952_4956del	ENSP00000490799.1:p.Ala1651AspfsTer9
ENST00000635776.1:c.*1818_*1822del	ENSP00000490692.1:n.*1818_*1822del
ENST00000636194.1:c.*2478_*2482del	ENSP00000490288.1:n.*2478_*2482del
ENST00000637038.1:c.1847_1851del
ENST00000637988.1:c.4952_4956del	ENSP00000490780.1:p.Ala1651AspfsTer9
ENST00000640036.1:c.4952_4956del	ENSP00000491573.1:p.Ala1651AspfsTer9
ENST00000641575.1:c.4949_4953del	ENSP00000492917.1:p.Ala1650AspfsTer9
ENST00000641603.1:c.4703_4707del	ENSP00000492945.1:p.Ala1568AspfsTer9
ENST00000641996.1:c.*4539_*4543del	ENSP00000493054.1:n.*4539_*4543del
ENST00000671940.1:c.*2928_*2932del	ENSP00000500336.1:n.*2928_*2932del
ENST00000673490.1:n.7458_7462del
ENST00000674923.1:c.4985_4989del MANE Select	ENSP00000501589.1:p.Ala1662AspfsTer9
ENST00000303395.8:c.4985_4989del	ENSP00000303540.4:p.Ala1662AspfsTer9
ENST00000375405.7:c.4952_4956del	ENSP00000364554.3:p.Ala1651AspfsTer9
ENST00000409050.1:c.4901_4905del	ENSP00000386312.1:p.Ala1634AspfsTer9
ENST00000423058.6:c.4985_4989del	ENSP00000407030.2:p.Ala1662AspfsTer9
NM_001165963.1:c.4985_4989del	NP_001159435.1:p.Ala1662AspfsTer9
NM_001165964.1:c.4901_4905del	NP_001159436.1:p.Ala1634AspfsTer9
NM_001202435.1:c.4985_4989del	NP_001189364.1:p.Ala1662AspfsTer9
NM_006920.4:c.4952_4956del , LRG_8t1:c.4952_4956del	NP_008851.3:p.Ala1651AspfsTer9
NR_110598.1:n.176-23322_176-23318del
XM_011511598.1:c.4985_4989del	XP_011509900.1:p.Ala1662AspfsTer9
XM_011511599.1:c.4985_4989del	XP_011509901.1:p.Ala1662AspfsTer9
XM_011511600.1:c.4985_4989del	XP_011509902.1:p.Ala1662AspfsTer9
XM_011511601.1:c.4985_4989del	XP_011509903.1:p.Ala1662AspfsTer9
XM_011511602.1:c.4985_4989del	XP_011509904.1:p.Ala1662AspfsTer9
XM_011511603.1:c.4982_4986del	XP_011509905.1:p.Ala1661AspfsTer9
XM_011511604.1:c.4952_4956del	XP_011509906.1:p.Ala1651AspfsTer9
XM_011511605.1:c.4949_4953del	XP_011509907.1:p.Ala1650AspfsTer9
XM_011511606.1:c.4901_4905del	XP_011509908.1:p.Ala1634AspfsTer9
XM_011511607.1:c.4703_4707del	XP_011509909.1:p.Ala1568AspfsTer9
NM_001165963.2:c.4985_4989del	NP_001159435.1:p.Ala1662AspfsTer9
NM_001165964.2:c.4901_4905del	NP_001159436.1:p.Ala1634AspfsTer9
NM_001202435.2:c.4985_4989del	NP_001189364.1:p.Ala1662AspfsTer9
NM_001353948.1:c.4985_4989del	NP_001340877.1:p.Ala1662AspfsTer9
NM_001353949.1:c.4952_4956del	NP_001340878.1:p.Ala1651AspfsTer9
NM_001353950.1:c.4952_4956del	NP_001340879.1:p.Ala1651AspfsTer9
NM_001353951.1:c.4952_4956del	NP_001340880.1:p.Ala1651AspfsTer9
NM_001353952.1:c.4952_4956del	NP_001340881.1:p.Ala1651AspfsTer9
NM_001353954.1:c.4949_4953del	NP_001340883.1:p.Ala1650AspfsTer9
NM_001353955.1:c.4949_4953del	NP_001340884.1:p.Ala1650AspfsTer9
NM_001353957.1:c.4901_4905del	NP_001340886.1:p.Ala1634AspfsTer9
NM_001353958.1:c.4901_4905del	NP_001340887.1:p.Ala1634AspfsTer9
NM_001353960.1:c.4898_4902del	NP_001340889.1:p.Ala1633AspfsTer9
NM_001353961.1:c.2543_2547del	NP_001340890.1:p.Ala848AspfsTer9
NM_006920.5:c.4952_4956del	NP_008851.3:p.Ala1651AspfsTer9
NR_148667.1:n.5421_5425del
XR_001738883.1:n.5435_5439del
XR_001738884.1:n.5407_5411del
NM_001165963.3:c.4985_4989del	NP_001159435.1:p.Ala1662AspfsTer9
NM_001165964.3:c.4901_4905del	NP_001159436.1:p.Ala1634AspfsTer9
NM_001202435.3:c.4985_4989del	NP_001189364.1:p.Ala1662AspfsTer9
NM_001353948.2:c.4985_4989del	NP_001340877.1:p.Ala1662AspfsTer9
NM_001353949.2:c.4952_4956del	NP_001340878.1:p.Ala1651AspfsTer9
NM_001353950.2:c.4952_4956del	NP_001340879.1:p.Ala1651AspfsTer9
NM_001353951.2:c.4952_4956del	NP_001340880.1:p.Ala1651AspfsTer9
NM_001353952.2:c.4952_4956del	NP_001340881.1:p.Ala1651AspfsTer9
NM_001353954.2:c.4949_4953del	NP_001340883.1:p.Ala1650AspfsTer9
NM_001353955.2:c.4949_4953del	NP_001340884.1:p.Ala1650AspfsTer9
NM_001353957.2:c.4901_4905del	NP_001340886.1:p.Ala1634AspfsTer9
NM_001353958.2:c.4901_4905del	NP_001340887.1:p.Ala1634AspfsTer9
NM_001353960.2:c.4898_4902del	NP_001340889.1:p.Ala1633AspfsTer9
NM_001353961.2:c.2543_2547del	NP_001340890.1:p.Ala848AspfsTer9
NM_006920.6:c.4952_4956del	NP_008851.3:p.Ala1651AspfsTer9
NR_148667.2:n.5402_5406del
NM_001165963.4:c.4985_4989del MANE Select	NP_001159435.1:p.Ala1662AspfsTer9