Canonical Allele Identifier: CA2661757627
Gene: SCN1A HGNC NCBI

Linked Data

gnomAD v4: 2-166012012-C-CAGACTATAT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166012013_166012014insGACTATATA , CM000664.2:g.166012013_166012014insGACTATATA GRCh38
NC_000002.11:g.166868523_166868524insGACTATATA , CM000664.1:g.166868523_166868524insGACTATATA GRCh37
NC_000002.10:g.166576769_166576770insGACTATATA NCBI36
NG_011906.1:g.66627_66628insATATAGTCT , LRG_8:g.66627_66628insATATAGTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000689288.1:c.*1915+96_*1915+97insATATAGTCT ENSP00000509637.1:n.*1915+96_*1915+97insATATAGTCT
ENST00000303395.9:c.3879+96_3879+97insATATAGTCT ENSP00000303540.4:n.3879+96_3879+97insATATAGTCT
ENST00000635750.1:c.3846+96_3846+97insATATAGTCT ENSP00000490799.1:n.3846+96_3846+97insATATAGTCT
ENST00000635776.1:c.3846+96_3846+97insATATAGTCT ENSP00000490692.1:n.3846+96_3846+97insATATAGTCT
ENST00000636194.1:c.*1372+96_*1372+97insATATAGTCT ENSP00000490288.1:n.*1372+96_*1372+97insATATAGTCT
ENST00000637038.1:c.677+96_677+97insATATAGTCT
ENST00000637968.1:n.4131+96_4131+97insATATAGTCT
ENST00000637988.1:c.3846+96_3846+97insATATAGTCT ENSP00000490780.1:n.3846+96_3846+97insATATAGTCT
ENST00000640036.1:c.3846+96_3846+97insATATAGTCT ENSP00000491573.1:n.3846+96_3846+97insATATAGTCT
ENST00000641575.1:c.3843+96_3843+97insATATAGTCT ENSP00000492917.1:n.3843+96_3843+97insATATAGTCT
ENST00000641603.1:c.3879+96_3879+97insATATAGTCT ENSP00000492945.1:n.3879+96_3879+97insATATAGTCT
ENST00000641996.1:c.*3433+96_*3433+97insATATAGTCT ENSP00000493054.1:n.*3433+96_*3433+97insATATAGTCT
ENST00000671940.1:c.*1822+96_*1822+97insATATAGTCT ENSP00000500336.1:n.*1822+96_*1822+97insATATAGTCT
ENST00000673490.1:n.6352+96_6352+97insATATAGTCT
ENST00000674923.1:c.3879+96_3879+97insATATAGTCT MANE Select ENSP00000501589.1:n.3879+96_3879+97insATATAGTCT
ENST00000303395.8:c.3879+96_3879+97insATATAGTCT ENSP00000303540.4:n.3879+96_3879+97insATATAGTCT
ENST00000375405.7:c.3846+96_3846+97insATATAGTCT ENSP00000364554.3:n.3846+96_3846+97insATATAGTCT
ENST00000409050.1:c.3795+96_3795+97insATATAGTCT ENSP00000386312.1:n.3795+96_3795+97insATATAGTCT
ENST00000423058.6:c.3879+96_3879+97insATATAGTCT ENSP00000407030.2:n.3879+96_3879+97insATATAGTCT
NM_001165963.1:c.3879+96_3879+97insATATAGTCT NP_001159435.1:n.3879+96_3879+97insATATAGTCT
NM_001165964.1:c.3795+96_3795+97insATATAGTCT NP_001159436.1:n.3795+96_3795+97insATATAGTCT
NM_001202435.1:c.3879+96_3879+97insATATAGTCT NP_001189364.1:n.3879+96_3879+97insATATAGTCT
NM_006920.4:c.3846+96_3846+97insATATAGTCT , LRG_8t1:c.3846+96_3846+97insATATAGTCT NP_008851.3:n.3846+96_3846+97insATATAGTCT
NR_110598.1:n.176-3600_176-3599insGACTATATA
XM_011511598.1:c.3879+96_3879+97insATATAGTCT XP_011509900.1:n.3879+96_3879+97insATATAGTCT
XM_011511599.1:c.3879+96_3879+97insATATAGTCT XP_011509901.1:n.3879+96_3879+97insATATAGTCT
XM_011511600.1:c.3879+96_3879+97insATATAGTCT XP_011509902.1:n.3879+96_3879+97insATATAGTCT
XM_011511601.1:c.3879+96_3879+97insATATAGTCT XP_011509903.1:n.3879+96_3879+97insATATAGTCT
XM_011511602.1:c.3879+96_3879+97insATATAGTCT XP_011509904.1:n.3879+96_3879+97insATATAGTCT
XM_011511603.1:c.3876+96_3876+97insATATAGTCT XP_011509905.1:n.3876+96_3876+97insATATAGTCT
XM_011511604.1:c.3846+96_3846+97insATATAGTCT XP_011509906.1:n.3846+96_3846+97insATATAGTCT
XM_011511605.1:c.3843+96_3843+97insATATAGTCT XP_011509907.1:n.3843+96_3843+97insATATAGTCT
XM_011511606.1:c.3795+96_3795+97insATATAGTCT XP_011509908.1:n.3795+96_3795+97insATATAGTCT
XM_011511607.1:c.3879+96_3879+97insATATAGTCT XP_011509909.1:n.3879+96_3879+97insATATAGTCT
XR_922981.1:n.4063+96_4063+97insATATAGTCT
NM_001165963.2:c.3879+96_3879+97insATATAGTCT NP_001159435.1:n.3879+96_3879+97insATATAGTCT
NM_001165964.2:c.3795+96_3795+97insATATAGTCT NP_001159436.1:n.3795+96_3795+97insATATAGTCT
NM_001202435.2:c.3879+96_3879+97insATATAGTCT NP_001189364.1:n.3879+96_3879+97insATATAGTCT
NM_001353948.1:c.3879+96_3879+97insATATAGTCT NP_001340877.1:n.3879+96_3879+97insATATAGTCT
NM_001353949.1:c.3846+96_3846+97insATATAGTCT NP_001340878.1:n.3846+96_3846+97insATATAGTCT
NM_001353950.1:c.3846+96_3846+97insATATAGTCT NP_001340879.1:n.3846+96_3846+97insATATAGTCT
NM_001353951.1:c.3846+96_3846+97insATATAGTCT NP_001340880.1:n.3846+96_3846+97insATATAGTCT
NM_001353952.1:c.3846+96_3846+97insATATAGTCT NP_001340881.1:n.3846+96_3846+97insATATAGTCT
NM_001353954.1:c.3843+96_3843+97insATATAGTCT NP_001340883.1:n.3843+96_3843+97insATATAGTCT
NM_001353955.1:c.3843+96_3843+97insATATAGTCT NP_001340884.1:n.3843+96_3843+97insATATAGTCT
NM_001353957.1:c.3795+96_3795+97insATATAGTCT NP_001340886.1:n.3795+96_3795+97insATATAGTCT
NM_001353958.1:c.3795+96_3795+97insATATAGTCT NP_001340887.1:n.3795+96_3795+97insATATAGTCT
NM_001353960.1:c.3792+96_3792+97insATATAGTCT NP_001340889.1:n.3792+96_3792+97insATATAGTCT
NM_001353961.1:c.1437+96_1437+97insATATAGTCT NP_001340890.1:n.1437+96_1437+97insATATAGTCT
NM_006920.5:c.3846+96_3846+97insATATAGTCT NP_008851.3:n.3846+96_3846+97insATATAGTCT
NR_148667.1:n.4251+96_4251+97insATATAGTCT
XR_001738883.1:n.4265+96_4265+97insATATAGTCT
XR_001738884.1:n.4237+96_4237+97insATATAGTCT
NM_001165963.3:c.3879+96_3879+97insATATAGTCT NP_001159435.1:n.3879+96_3879+97insATATAGTCT
NM_001165964.3:c.3795+96_3795+97insATATAGTCT NP_001159436.1:n.3795+96_3795+97insATATAGTCT
NM_001202435.3:c.3879+96_3879+97insATATAGTCT NP_001189364.1:n.3879+96_3879+97insATATAGTCT
NM_001353948.2:c.3879+96_3879+97insATATAGTCT NP_001340877.1:n.3879+96_3879+97insATATAGTCT
NM_001353949.2:c.3846+96_3846+97insATATAGTCT NP_001340878.1:n.3846+96_3846+97insATATAGTCT
NM_001353950.2:c.3846+96_3846+97insATATAGTCT NP_001340879.1:n.3846+96_3846+97insATATAGTCT
NM_001353951.2:c.3846+96_3846+97insATATAGTCT NP_001340880.1:n.3846+96_3846+97insATATAGTCT
NM_001353952.2:c.3846+96_3846+97insATATAGTCT NP_001340881.1:n.3846+96_3846+97insATATAGTCT
NM_001353954.2:c.3843+96_3843+97insATATAGTCT NP_001340883.1:n.3843+96_3843+97insATATAGTCT
NM_001353955.2:c.3843+96_3843+97insATATAGTCT NP_001340884.1:n.3843+96_3843+97insATATAGTCT
NM_001353957.2:c.3795+96_3795+97insATATAGTCT NP_001340886.1:n.3795+96_3795+97insATATAGTCT
NM_001353958.2:c.3795+96_3795+97insATATAGTCT NP_001340887.1:n.3795+96_3795+97insATATAGTCT
NM_001353960.2:c.3792+96_3792+97insATATAGTCT NP_001340889.1:n.3792+96_3792+97insATATAGTCT
NM_001353961.2:c.1437+96_1437+97insATATAGTCT NP_001340890.1:n.1437+96_1437+97insATATAGTCT
NM_006920.6:c.3846+96_3846+97insATATAGTCT NP_008851.3:n.3846+96_3846+97insATATAGTCT
NR_148667.2:n.4232+96_4232+97insATATAGTCT
NM_001165963.4:c.3879+96_3879+97insATATAGTCT MANE Select NP_001159435.1:n.3879+96_3879+97insATATAGTCT
Search 100 bp 5'
Search 100 bp 3'