Canonical Allele Identifier: CA913189386
Gene: SCN1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166036274_166038101del , CM000664.2:g.166036274_166038101del GRCh38
NC_000002.11:g.166892784_166894611del , CM000664.1:g.166892784_166894611del GRCh37
NC_000002.10:g.166601030_166602857del NCBI36
NG_011906.1:g.40539_42366del , LRG_8:g.40539_42366del

Transcript Alleles

HGVS Amino-acid change
ENST00000689288.1:c.*657_*1239del
ENST00000303395.9:c.2621_3203del
ENST00000635750.1:c.2588_3170del
ENST00000635776.1:c.2588_3170del
ENST00000636194.1:c.*114_*696del
ENST00000637968.1:n.2873_3455del
ENST00000637988.1:c.2588_3170del
ENST00000640036.1:c.2588_3170del
ENST00000641575.1:c.2585_3167del
ENST00000641603.1:c.2621_3203del
ENST00000641996.1:c.*2175_*2757del
ENST00000671940.1:c.*564_*1146del
ENST00000673490.1:n.5094_5676del
ENST00000674923.1:c.2621_3203del
ENST00000303395.8:c.2621_3203del
ENST00000375405.7:c.2588_3170del
ENST00000409050.1:c.2537_3119del
ENST00000423058.6:c.2621_3203del
NM_001165963.1:c.2621_3203del
NM_001165964.1:c.2537_3119del
NM_001202435.1:c.2621_3203del
NM_006920.4:c.2588_3170del , LRG_8t1:c.2588_3170del
XM_011511598.1:c.2621_3203del
XM_011511599.1:c.2621_3203del
XM_011511600.1:c.2621_3203del
XM_011511601.1:c.2621_3203del
XM_011511602.1:c.2621_3203del
XM_011511603.1:c.2618_3200del
XM_011511604.1:c.2588_3170del
XM_011511605.1:c.2585_3167del
XM_011511606.1:c.2537_3119del
XM_011511607.1:c.2621_3203del
XR_922981.1:n.2805_3387del
NM_001165963.2:c.2621_3203del
NM_001165964.2:c.2537_3119del
NM_001202435.2:c.2621_3203del
NM_001353948.1:c.2621_3203del
NM_001353949.1:c.2588_3170del
NM_001353950.1:c.2588_3170del
NM_001353951.1:c.2588_3170del
NM_001353952.1:c.2588_3170del
NM_001353954.1:c.2585_3167del
NM_001353955.1:c.2585_3167del
NM_001353957.1:c.2537_3119del
NM_001353958.1:c.2537_3119del
NM_001353960.1:c.2534_3116del
NM_001353961.1:c.179_761del
NM_006920.5:c.2588_3170del
NR_148667.1:n.2993_3575del
XR_001738883.1:n.3007_3589del
XR_001738884.1:n.2979_3561del
NM_001165963.3:c.2621_3203del
NM_001165964.3:c.2537_3119del
NM_001202435.3:c.2621_3203del
NM_001353948.2:c.2621_3203del
NM_001353949.2:c.2588_3170del
NM_001353950.2:c.2588_3170del
NM_001353951.2:c.2588_3170del
NM_001353952.2:c.2588_3170del
NM_001353954.2:c.2585_3167del
NM_001353955.2:c.2585_3167del
NM_001353957.2:c.2537_3119del
NM_001353958.2:c.2537_3119del
NM_001353960.2:c.2534_3116del
NM_001353961.2:c.179_761del
NM_006920.6:c.2588_3170del
NR_148667.2:n.2974_3556del
NM_001165963.4:c.2621_3203del