Canonical Allele Identifier: CA303196
Gene: SCN1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165991741_165991744del , CM000664.2:g.165991741_165991744del GRCh38
NC_000002.11:g.166848251_166848254del , CM000664.1:g.166848251_166848254del GRCh37
NC_000002.10:g.166556497_166556500del NCBI36
NG_011906.1:g.86901_86904del , LRG_8:g.86901_86904del

Transcript Alleles

HGVS Amino-acid Change
NM_001165963.4:c.5536_5539del MANE Select NP_001159435.1:p.Lys1846SerfsTer11
ENST00000674923.1:c.5536_5539del MANE Select ENSP00000501589.1:p.Lys1846SerfsTer11
NM_001165963.1:c.5536_5539del NP_001159435.1:p.Lys1846SerfsTer11
NM_001165963.2:c.5536_5539del NP_001159435.1:p.Lys1846SerfsTer11
NM_001165963.3:c.5536_5539del NP_001159435.1:p.Lys1846SerfsTer11
NM_001165964.1:c.5452_5455del NP_001159436.1:p.Lys1818SerfsTer11
NM_001165964.2:c.5452_5455del NP_001159436.1:p.Lys1818SerfsTer11
NM_001165964.3:c.5452_5455del NP_001159436.1:p.Lys1818SerfsTer11
NM_001202435.1:c.5536_5539del NP_001189364.1:p.Lys1846SerfsTer11
NM_001202435.2:c.5536_5539del NP_001189364.1:p.Lys1846SerfsTer11
NM_001202435.3:c.5536_5539del NP_001189364.1:p.Lys1846SerfsTer11
NM_001353948.1:c.5536_5539del NP_001340877.1:p.Lys1846SerfsTer11
NM_001353948.2:c.5536_5539del NP_001340877.1:p.Lys1846SerfsTer11
NM_001353949.1:c.5503_5506del NP_001340878.1:p.Lys1835SerfsTer11
NM_001353949.2:c.5503_5506del NP_001340878.1:p.Lys1835SerfsTer11
NM_001353950.1:c.5503_5506del NP_001340879.1:p.Lys1835SerfsTer11
NM_001353950.2:c.5503_5506del NP_001340879.1:p.Lys1835SerfsTer11
NM_001353951.1:c.5503_5506del NP_001340880.1:p.Lys1835SerfsTer11
NM_001353951.2:c.5503_5506del NP_001340880.1:p.Lys1835SerfsTer11
NM_001353952.1:c.5503_5506del NP_001340881.1:p.Lys1835SerfsTer11
NM_001353952.2:c.5503_5506del NP_001340881.1:p.Lys1835SerfsTer11
NM_001353954.1:c.5500_5503del NP_001340883.1:p.Lys1834SerfsTer11
NM_001353954.2:c.5500_5503del NP_001340883.1:p.Lys1834SerfsTer11
NM_001353955.1:c.5500_5503del NP_001340884.1:p.Lys1834SerfsTer11
NM_001353955.2:c.5500_5503del NP_001340884.1:p.Lys1834SerfsTer11
NM_001353957.1:c.5452_5455del NP_001340886.1:p.Lys1818SerfsTer11
NM_001353957.2:c.5452_5455del NP_001340886.1:p.Lys1818SerfsTer11
NM_001353958.1:c.5452_5455del NP_001340887.1:p.Lys1818SerfsTer11
NM_001353958.2:c.5452_5455del NP_001340887.1:p.Lys1818SerfsTer11
NM_001353960.1:c.5449_5452del NP_001340889.1:p.Lys1817SerfsTer11
NM_001353960.2:c.5449_5452del NP_001340889.1:p.Lys1817SerfsTer11
NM_001353961.1:c.3094_3097del NP_001340890.1:p.Lys1032SerfsTer11
NM_001353961.2:c.3094_3097del NP_001340890.1:p.Lys1032SerfsTer11
NM_006920.4:c.5503_5506del , LRG_8t1:c.5503_5506del NP_008851.3:p.Lys1835SerfsTer11
NM_006920.5:c.5503_5506del NP_008851.3:p.Lys1835SerfsTer11
NM_006920.6:c.5503_5506del NP_008851.3:p.Lys1835SerfsTer11
NR_110598.1:n.176-23872_176-23869del
NR_148667.1:n.5972_5975del
NR_148667.2:n.5953_5956del
ENST00000303395.8:c.5536_5539del ENSP00000303540.4:p.Lys1846SerfsTer11
ENST00000303395.9:c.5536_5539del ENSP00000303540.4:p.Lys1846SerfsTer11
ENST00000375405.7:c.5503_5506del ENSP00000364554.3:p.Lys1835SerfsTer11
ENST00000409050.1:c.5452_5455del ENSP00000386312.1:p.Lys1818SerfsTer11
ENST00000423058.6:c.5536_5539del ENSP00000407030.2:p.Lys1846SerfsTer11
ENST00000635750.1:c.5503_5506del ENSP00000490799.1:p.Lys1835SerfsTer11
ENST00000635776.1:c.*2369_*2372del ENSP00000490692.1:n.*2369_*2372del
ENST00000636194.1:c.*3029_*3032del ENSP00000490288.1:n.*3029_*3032del
ENST00000637038.1:c.2398_2401del
ENST00000637988.1:c.5503_5506del ENSP00000490780.1:p.Lys1835SerfsTer11
ENST00000640036.1:c.5503_5506del ENSP00000491573.1:p.Lys1835SerfsTer11
ENST00000641575.1:c.5500_5503del ENSP00000492917.1:p.Lys1834SerfsTer11
ENST00000641603.1:c.5254_5257del ENSP00000492945.1:p.Lys1752SerfsTer11
ENST00000641996.1:c.*5090_*5093del ENSP00000493054.1:n.*5090_*5093del
ENST00000671940.1:c.*3479_*3482del ENSP00000500336.1:n.*3479_*3482del
ENST00000673490.1:n.8009_8012del
ENST00000689288.1:c.*3572_*3575del ENSP00000509637.1:n.*3572_*3575del
XM_011511598.1:c.5536_5539del XP_011509900.1:p.Lys1846SerfsTer11
XM_011511599.1:c.5536_5539del XP_011509901.1:p.Lys1846SerfsTer11
XM_011511600.1:c.5536_5539del XP_011509902.1:p.Lys1846SerfsTer11
XM_011511601.1:c.5536_5539del XP_011509903.1:p.Lys1846SerfsTer11
XM_011511602.1:c.5536_5539del XP_011509904.1:p.Lys1846SerfsTer11
XM_011511603.1:c.5533_5536del XP_011509905.1:p.Lys1845SerfsTer11
XM_011511604.1:c.5503_5506del XP_011509906.1:p.Lys1835SerfsTer11
XM_011511605.1:c.5500_5503del XP_011509907.1:p.Lys1834SerfsTer11
XM_011511606.1:c.5452_5455del XP_011509908.1:p.Lys1818SerfsTer11
XM_011511607.1:c.5254_5257del XP_011509909.1:p.Lys1752SerfsTer11
XR_001738883.1:n.5986_5989del
XR_001738884.1:n.5958_5961del