Canonical Allele Identifier: CA2557042000
Gene: SCN1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166002378_166002379insTATAA , CM000664.2:g.166002378_166002379insTATAA GRCh38
NC_000002.11:g.166858888_166858889insTATAA , CM000664.1:g.166858888_166858889insTATAA GRCh37
NC_000002.10:g.166567134_166567135insTATAA NCBI36
NG_011906.1:g.76261_76262insTTATA , LRG_8:g.76261_76262insTTATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000689288.1:c.*2320+93_*2320+94insTTATA ENSP00000509637.1:n.*2320+93_*2320+94insTTATA
ENST00000303395.9:c.4284+93_4284+94insTTATA ENSP00000303540.4:n.4284+93_4284+94insTTATA
ENST00000635750.1:c.4251+93_4251+94insTTATA ENSP00000490799.1:n.4251+93_4251+94insTTATA
ENST00000635776.1:c.4251+93_4251+94insTTATA ENSP00000490692.1:n.4251+93_4251+94insTTATA
ENST00000635893.1:c.15+93_15+94insTTATA ENSP00000489986.1:n.15+93_15+94insTTATA
ENST00000636194.1:c.*1777+93_*1777+94insTTATA ENSP00000490288.1:n.*1777+93_*1777+94insTTATA
ENST00000637038.1:c.1146+93_1146+94insTTATA
ENST00000637988.1:c.4251+93_4251+94insTTATA ENSP00000490780.1:n.4251+93_4251+94insTTATA
ENST00000640036.1:c.4251+93_4251+94insTTATA ENSP00000491573.1:n.4251+93_4251+94insTTATA
ENST00000641575.1:c.4248+93_4248+94insTTATA ENSP00000492917.1:n.4248+93_4248+94insTTATA
ENST00000641603.1:c.4003-2603_4003-2602insTTATA ENSP00000492945.1:n.4003-2603_4003-2602insTTATA
ENST00000641996.1:c.*3838+93_*3838+94insTTATA ENSP00000493054.1:n.*3838+93_*3838+94insTTATA
ENST00000671940.1:c.*2227+93_*2227+94insTTATA ENSP00000500336.1:n.*2227+93_*2227+94insTTATA
ENST00000673490.1:n.6757+93_6757+94insTTATA
ENST00000674923.1:c.4284+93_4284+94insTTATA MANE Select ENSP00000501589.1:n.4284+93_4284+94insTTATA
ENST00000303395.8:c.4284+93_4284+94insTTATA ENSP00000303540.4:n.4284+93_4284+94insTTATA
ENST00000375405.7:c.4251+93_4251+94insTTATA ENSP00000364554.3:n.4251+93_4251+94insTTATA
ENST00000409050.1:c.4200+93_4200+94insTTATA ENSP00000386312.1:n.4200+93_4200+94insTTATA
ENST00000423058.6:c.4284+93_4284+94insTTATA ENSP00000407030.2:n.4284+93_4284+94insTTATA
ENST00000491429.1:n.437+93_437+94insTTATA
NM_001165963.1:c.4284+93_4284+94insTTATA NP_001159435.1:n.4284+93_4284+94insTTATA
NM_001165964.1:c.4200+93_4200+94insTTATA NP_001159436.1:n.4200+93_4200+94insTTATA
NM_001202435.1:c.4284+93_4284+94insTTATA NP_001189364.1:n.4284+93_4284+94insTTATA
NM_006920.4:c.4251+93_4251+94insTTATA , LRG_8t1:c.4251+93_4251+94insTTATA NP_008851.3:n.4251+93_4251+94insTTATA
NR_110598.1:n.176-13235_176-13234insTATAA
XM_011511598.1:c.4284+93_4284+94insTTATA XP_011509900.1:n.4284+93_4284+94insTTATA
XM_011511599.1:c.4284+93_4284+94insTTATA XP_011509901.1:n.4284+93_4284+94insTTATA
XM_011511600.1:c.4284+93_4284+94insTTATA XP_011509902.1:n.4284+93_4284+94insTTATA
XM_011511601.1:c.4284+93_4284+94insTTATA XP_011509903.1:n.4284+93_4284+94insTTATA
XM_011511602.1:c.4284+93_4284+94insTTATA XP_011509904.1:n.4284+93_4284+94insTTATA
XM_011511603.1:c.4281+93_4281+94insTTATA XP_011509905.1:n.4281+93_4281+94insTTATA
XM_011511604.1:c.4251+93_4251+94insTTATA XP_011509906.1:n.4251+93_4251+94insTTATA
XM_011511605.1:c.4248+93_4248+94insTTATA XP_011509907.1:n.4248+93_4248+94insTTATA
XM_011511606.1:c.4200+93_4200+94insTTATA XP_011509908.1:n.4200+93_4200+94insTTATA
XM_011511607.1:c.4003-2603_4003-2602insTTATA XP_011509909.1:n.4003-2603_4003-2602insTTATA
XR_922981.1:n.4532+93_4532+94insTTATA
NM_001165963.2:c.4284+93_4284+94insTTATA NP_001159435.1:n.4284+93_4284+94insTTATA
NM_001165964.2:c.4200+93_4200+94insTTATA NP_001159436.1:n.4200+93_4200+94insTTATA
NM_001202435.2:c.4284+93_4284+94insTTATA NP_001189364.1:n.4284+93_4284+94insTTATA
NM_001353948.1:c.4284+93_4284+94insTTATA NP_001340877.1:n.4284+93_4284+94insTTATA
NM_001353949.1:c.4251+93_4251+94insTTATA NP_001340878.1:n.4251+93_4251+94insTTATA
NM_001353950.1:c.4251+93_4251+94insTTATA NP_001340879.1:n.4251+93_4251+94insTTATA
NM_001353951.1:c.4251+93_4251+94insTTATA NP_001340880.1:n.4251+93_4251+94insTTATA
NM_001353952.1:c.4251+93_4251+94insTTATA NP_001340881.1:n.4251+93_4251+94insTTATA
NM_001353954.1:c.4248+93_4248+94insTTATA NP_001340883.1:n.4248+93_4248+94insTTATA
NM_001353955.1:c.4248+93_4248+94insTTATA NP_001340884.1:n.4248+93_4248+94insTTATA
NM_001353957.1:c.4200+93_4200+94insTTATA NP_001340886.1:n.4200+93_4200+94insTTATA
NM_001353958.1:c.4200+93_4200+94insTTATA NP_001340887.1:n.4200+93_4200+94insTTATA
NM_001353960.1:c.4197+93_4197+94insTTATA NP_001340889.1:n.4197+93_4197+94insTTATA
NM_001353961.1:c.1842+93_1842+94insTTATA NP_001340890.1:n.1842+93_1842+94insTTATA
NM_006920.5:c.4251+93_4251+94insTTATA NP_008851.3:n.4251+93_4251+94insTTATA
NR_148667.1:n.4720+93_4720+94insTTATA
XR_001738883.1:n.4734+93_4734+94insTTATA
XR_001738884.1:n.4706+93_4706+94insTTATA
NM_001165963.3:c.4284+93_4284+94insTTATA NP_001159435.1:n.4284+93_4284+94insTTATA
NM_001165964.3:c.4200+93_4200+94insTTATA NP_001159436.1:n.4200+93_4200+94insTTATA
NM_001202435.3:c.4284+93_4284+94insTTATA NP_001189364.1:n.4284+93_4284+94insTTATA
NM_001353948.2:c.4284+93_4284+94insTTATA NP_001340877.1:n.4284+93_4284+94insTTATA
NM_001353949.2:c.4251+93_4251+94insTTATA NP_001340878.1:n.4251+93_4251+94insTTATA
NM_001353950.2:c.4251+93_4251+94insTTATA NP_001340879.1:n.4251+93_4251+94insTTATA
NM_001353951.2:c.4251+93_4251+94insTTATA NP_001340880.1:n.4251+93_4251+94insTTATA
NM_001353952.2:c.4251+93_4251+94insTTATA NP_001340881.1:n.4251+93_4251+94insTTATA
NM_001353954.2:c.4248+93_4248+94insTTATA NP_001340883.1:n.4248+93_4248+94insTTATA
NM_001353955.2:c.4248+93_4248+94insTTATA NP_001340884.1:n.4248+93_4248+94insTTATA
NM_001353957.2:c.4200+93_4200+94insTTATA NP_001340886.1:n.4200+93_4200+94insTTATA
NM_001353958.2:c.4200+93_4200+94insTTATA NP_001340887.1:n.4200+93_4200+94insTTATA
NM_001353960.2:c.4197+93_4197+94insTTATA NP_001340889.1:n.4197+93_4197+94insTTATA
NM_001353961.2:c.1842+93_1842+94insTTATA NP_001340890.1:n.1842+93_1842+94insTTATA
NM_006920.6:c.4251+93_4251+94insTTATA NP_008851.3:n.4251+93_4251+94insTTATA
NR_148667.2:n.4701+93_4701+94insTTATA
NM_001165963.4:c.4284+93_4284+94insTTATA MANE Select NP_001159435.1:n.4284+93_4284+94insTTATA
Search 100 bp 5'
Search 100 bp 3'