Canonical Allele Identifier: CA2533010567
Gene: SCN1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166012024_166012025insGGGGATGGAATCTA , CM000664.2:g.166012024_166012025insGGGGATGGAATCTA GRCh38
NC_000002.11:g.166868534_166868535insGGGGATGGAATCTA , CM000664.1:g.166868534_166868535insGGGGATGGAATCTA GRCh37
NC_000002.10:g.166576780_166576781insGGGGATGGAATCTA NCBI36
NG_011906.1:g.66615_66616insTAGATTCCATCCCC , LRG_8:g.66615_66616insTAGATTCCATCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000689288.1:c.*1915+84_*1915+85insTAGATTCCATCCCC ENSP00000509637.1:n.*1915+84_*1915+85insTAGATTCCATCCCC
ENST00000303395.9:c.3879+84_3879+85insTAGATTCCATCCCC ENSP00000303540.4:n.3879+84_3879+85insTAGATTCCATCCCC
ENST00000635750.1:c.3846+84_3846+85insTAGATTCCATCCCC ENSP00000490799.1:n.3846+84_3846+85insTAGATTCCATCCCC
ENST00000635776.1:c.3846+84_3846+85insTAGATTCCATCCCC ENSP00000490692.1:n.3846+84_3846+85insTAGATTCCATCCCC
ENST00000636194.1:c.*1372+84_*1372+85insTAGATTCCATCCCC ENSP00000490288.1:n.*1372+84_*1372+85insTAGATTCCATCCCC
ENST00000637038.1:c.677+84_677+85insTAGATTCCATCCCC
ENST00000637968.1:n.4131+84_4131+85insTAGATTCCATCCCC
ENST00000637988.1:c.3846+84_3846+85insTAGATTCCATCCCC ENSP00000490780.1:n.3846+84_3846+85insTAGATTCCATCCCC
ENST00000640036.1:c.3846+84_3846+85insTAGATTCCATCCCC ENSP00000491573.1:n.3846+84_3846+85insTAGATTCCATCCCC
ENST00000641575.1:c.3843+84_3843+85insTAGATTCCATCCCC ENSP00000492917.1:n.3843+84_3843+85insTAGATTCCATCCCC
ENST00000641603.1:c.3879+84_3879+85insTAGATTCCATCCCC ENSP00000492945.1:n.3879+84_3879+85insTAGATTCCATCCCC
ENST00000641996.1:c.*3433+84_*3433+85insTAGATTCCATCCCC ENSP00000493054.1:n.*3433+84_*3433+85insTAGATTCCATCCCC
ENST00000671940.1:c.*1822+84_*1822+85insTAGATTCCATCCCC ENSP00000500336.1:n.*1822+84_*1822+85insTAGATTCCATCCCC
ENST00000673490.1:n.6352+84_6352+85insTAGATTCCATCCCC
ENST00000674923.1:c.3879+84_3879+85insTAGATTCCATCCCC MANE Select ENSP00000501589.1:n.3879+84_3879+85insTAGATTCCATCCCC
ENST00000303395.8:c.3879+84_3879+85insTAGATTCCATCCCC ENSP00000303540.4:n.3879+84_3879+85insTAGATTCCATCCCC
ENST00000375405.7:c.3846+84_3846+85insTAGATTCCATCCCC ENSP00000364554.3:n.3846+84_3846+85insTAGATTCCATCCCC
ENST00000409050.1:c.3795+84_3795+85insTAGATTCCATCCCC ENSP00000386312.1:n.3795+84_3795+85insTAGATTCCATCCCC
ENST00000423058.6:c.3879+84_3879+85insTAGATTCCATCCCC ENSP00000407030.2:n.3879+84_3879+85insTAGATTCCATCCCC
NM_001165963.1:c.3879+84_3879+85insTAGATTCCATCCCC NP_001159435.1:n.3879+84_3879+85insTAGATTCCATCCCC
NM_001165964.1:c.3795+84_3795+85insTAGATTCCATCCCC NP_001159436.1:n.3795+84_3795+85insTAGATTCCATCCCC
NM_001202435.1:c.3879+84_3879+85insTAGATTCCATCCCC NP_001189364.1:n.3879+84_3879+85insTAGATTCCATCCCC
NM_006920.4:c.3846+84_3846+85insTAGATTCCATCCCC , LRG_8t1:c.3846+84_3846+85insTAGATTCCATCCCC NP_008851.3:n.3846+84_3846+85insTAGATTCCATCCCC
NR_110598.1:n.176-3589_176-3588insGGGGATGGAATCTA
XM_011511598.1:c.3879+84_3879+85insTAGATTCCATCCCC XP_011509900.1:n.3879+84_3879+85insTAGATTCCATCCCC
XM_011511599.1:c.3879+84_3879+85insTAGATTCCATCCCC XP_011509901.1:n.3879+84_3879+85insTAGATTCCATCCCC
XM_011511600.1:c.3879+84_3879+85insTAGATTCCATCCCC XP_011509902.1:n.3879+84_3879+85insTAGATTCCATCCCC
XM_011511601.1:c.3879+84_3879+85insTAGATTCCATCCCC XP_011509903.1:n.3879+84_3879+85insTAGATTCCATCCCC
XM_011511602.1:c.3879+84_3879+85insTAGATTCCATCCCC XP_011509904.1:n.3879+84_3879+85insTAGATTCCATCCCC
XM_011511603.1:c.3876+84_3876+85insTAGATTCCATCCCC XP_011509905.1:n.3876+84_3876+85insTAGATTCCATCCCC
XM_011511604.1:c.3846+84_3846+85insTAGATTCCATCCCC XP_011509906.1:n.3846+84_3846+85insTAGATTCCATCCCC
XM_011511605.1:c.3843+84_3843+85insTAGATTCCATCCCC XP_011509907.1:n.3843+84_3843+85insTAGATTCCATCCCC
XM_011511606.1:c.3795+84_3795+85insTAGATTCCATCCCC XP_011509908.1:n.3795+84_3795+85insTAGATTCCATCCCC
XM_011511607.1:c.3879+84_3879+85insTAGATTCCATCCCC XP_011509909.1:n.3879+84_3879+85insTAGATTCCATCCCC
XR_922981.1:n.4063+84_4063+85insTAGATTCCATCCCC
NM_001165963.2:c.3879+84_3879+85insTAGATTCCATCCCC NP_001159435.1:n.3879+84_3879+85insTAGATTCCATCCCC
NM_001165964.2:c.3795+84_3795+85insTAGATTCCATCCCC NP_001159436.1:n.3795+84_3795+85insTAGATTCCATCCCC
NM_001202435.2:c.3879+84_3879+85insTAGATTCCATCCCC NP_001189364.1:n.3879+84_3879+85insTAGATTCCATCCCC
NM_001353948.1:c.3879+84_3879+85insTAGATTCCATCCCC NP_001340877.1:n.3879+84_3879+85insTAGATTCCATCCCC
NM_001353949.1:c.3846+84_3846+85insTAGATTCCATCCCC NP_001340878.1:n.3846+84_3846+85insTAGATTCCATCCCC
NM_001353950.1:c.3846+84_3846+85insTAGATTCCATCCCC NP_001340879.1:n.3846+84_3846+85insTAGATTCCATCCCC
NM_001353951.1:c.3846+84_3846+85insTAGATTCCATCCCC NP_001340880.1:n.3846+84_3846+85insTAGATTCCATCCCC
NM_001353952.1:c.3846+84_3846+85insTAGATTCCATCCCC NP_001340881.1:n.3846+84_3846+85insTAGATTCCATCCCC
NM_001353954.1:c.3843+84_3843+85insTAGATTCCATCCCC NP_001340883.1:n.3843+84_3843+85insTAGATTCCATCCCC
NM_001353955.1:c.3843+84_3843+85insTAGATTCCATCCCC NP_001340884.1:n.3843+84_3843+85insTAGATTCCATCCCC
NM_001353957.1:c.3795+84_3795+85insTAGATTCCATCCCC NP_001340886.1:n.3795+84_3795+85insTAGATTCCATCCCC
NM_001353958.1:c.3795+84_3795+85insTAGATTCCATCCCC NP_001340887.1:n.3795+84_3795+85insTAGATTCCATCCCC
NM_001353960.1:c.3792+84_3792+85insTAGATTCCATCCCC NP_001340889.1:n.3792+84_3792+85insTAGATTCCATCCCC
NM_001353961.1:c.1437+84_1437+85insTAGATTCCATCCCC NP_001340890.1:n.1437+84_1437+85insTAGATTCCATCCCC
NM_006920.5:c.3846+84_3846+85insTAGATTCCATCCCC NP_008851.3:n.3846+84_3846+85insTAGATTCCATCCCC
NR_148667.1:n.4251+84_4251+85insTAGATTCCATCCCC
XR_001738883.1:n.4265+84_4265+85insTAGATTCCATCCCC
XR_001738884.1:n.4237+84_4237+85insTAGATTCCATCCCC
NM_001165963.3:c.3879+84_3879+85insTAGATTCCATCCCC NP_001159435.1:n.3879+84_3879+85insTAGATTCCATCCCC
NM_001165964.3:c.3795+84_3795+85insTAGATTCCATCCCC NP_001159436.1:n.3795+84_3795+85insTAGATTCCATCCCC
NM_001202435.3:c.3879+84_3879+85insTAGATTCCATCCCC NP_001189364.1:n.3879+84_3879+85insTAGATTCCATCCCC
NM_001353948.2:c.3879+84_3879+85insTAGATTCCATCCCC NP_001340877.1:n.3879+84_3879+85insTAGATTCCATCCCC
NM_001353949.2:c.3846+84_3846+85insTAGATTCCATCCCC NP_001340878.1:n.3846+84_3846+85insTAGATTCCATCCCC
NM_001353950.2:c.3846+84_3846+85insTAGATTCCATCCCC NP_001340879.1:n.3846+84_3846+85insTAGATTCCATCCCC
NM_001353951.2:c.3846+84_3846+85insTAGATTCCATCCCC NP_001340880.1:n.3846+84_3846+85insTAGATTCCATCCCC
NM_001353952.2:c.3846+84_3846+85insTAGATTCCATCCCC NP_001340881.1:n.3846+84_3846+85insTAGATTCCATCCCC
NM_001353954.2:c.3843+84_3843+85insTAGATTCCATCCCC NP_001340883.1:n.3843+84_3843+85insTAGATTCCATCCCC
NM_001353955.2:c.3843+84_3843+85insTAGATTCCATCCCC NP_001340884.1:n.3843+84_3843+85insTAGATTCCATCCCC
NM_001353957.2:c.3795+84_3795+85insTAGATTCCATCCCC NP_001340886.1:n.3795+84_3795+85insTAGATTCCATCCCC
NM_001353958.2:c.3795+84_3795+85insTAGATTCCATCCCC NP_001340887.1:n.3795+84_3795+85insTAGATTCCATCCCC
NM_001353960.2:c.3792+84_3792+85insTAGATTCCATCCCC NP_001340889.1:n.3792+84_3792+85insTAGATTCCATCCCC
NM_001353961.2:c.1437+84_1437+85insTAGATTCCATCCCC NP_001340890.1:n.1437+84_1437+85insTAGATTCCATCCCC
NM_006920.6:c.3846+84_3846+85insTAGATTCCATCCCC NP_008851.3:n.3846+84_3846+85insTAGATTCCATCCCC
NR_148667.2:n.4232+84_4232+85insTAGATTCCATCCCC
NM_001165963.4:c.3879+84_3879+85insTAGATTCCATCCCC MANE Select NP_001159435.1:n.3879+84_3879+85insTAGATTCCATCCCC
Search 100 bp 5'
Search 100 bp 3'