Canonical Allele Identifier: CA2661732031
Gene: SCN1A HGNC NCBI

Linked Data

gnomAD v4: 2-165991411-A-AACTGGGTTCAGGACTC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165991411_165991412insACTGGGTTCAGGACTC , CM000664.2:g.165991411_165991412insACTGGGTTCAGGACTC GRCh38
NC_000002.11:g.166847921_166847922insACTGGGTTCAGGACTC , CM000664.1:g.166847921_166847922insACTGGGTTCAGGACTC GRCh37
NC_000002.10:g.166556167_166556168insACTGGGTTCAGGACTC NCBI36
NG_011906.1:g.87228_87229insGAGTCCTGAACCCAGT , LRG_8:g.87228_87229insGAGTCCTGAACCCAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000689288.1:c.*3899_*3900insGAGTCCTGAACCCAGT ENSP00000509637.1:n.*3899_*3900insGAGTCCTGAACCCAGT
ENST00000303395.9:c.5863_5864insGAGTCCTGAACCCAGT ENSP00000303540.4:p.Ile1955ArgfsTer13
ENST00000635750.1:c.5830_5831insGAGTCCTGAACCCAGT ENSP00000490799.1:p.Ile1944ArgfsTer13
ENST00000635776.1:c.*2696_*2697insGAGTCCTGAACCCAGT ENSP00000490692.1:n.*2696_*2697insGAGTCCTGAACCCAGT
ENST00000636194.1:c.*3356_*3357insGAGTCCTGAACCCAGT ENSP00000490288.1:n.*3356_*3357insGAGTCCTGAACCCAGT
ENST00000637038.1:c.2725_2726insGAGTCCTGAACCCAGT
ENST00000637988.1:c.5830_5831insGAGTCCTGAACCCAGT ENSP00000490780.1:p.Ile1944ArgfsTer13
ENST00000640036.1:c.5830_5831insGAGTCCTGAACCCAGT ENSP00000491573.1:p.Ile1944ArgfsTer13
ENST00000641575.1:c.5827_5828insGAGTCCTGAACCCAGT ENSP00000492917.1:p.Ile1943ArgfsTer13
ENST00000641603.1:c.5581_5582insGAGTCCTGAACCCAGT ENSP00000492945.1:p.Ile1861ArgfsTer13
ENST00000641996.1:c.*5417_*5418insGAGTCCTGAACCCAGT ENSP00000493054.1:n.*5417_*5418insGAGTCCTGAACCCAGT
ENST00000671940.1:c.*3806_*3807insGAGTCCTGAACCCAGT ENSP00000500336.1:n.*3806_*3807insGAGTCCTGAACCCAGT
ENST00000673490.1:n.8336_8337insGAGTCCTGAACCCAGT
ENST00000674923.1:c.5863_5864insGAGTCCTGAACCCAGT MANE Select ENSP00000501589.1:p.Ile1955ArgfsTer13
ENST00000303395.8:c.5863_5864insGAGTCCTGAACCCAGT ENSP00000303540.4:p.Ile1955ArgfsTer13
ENST00000375405.7:c.5830_5831insGAGTCCTGAACCCAGT ENSP00000364554.3:p.Ile1944ArgfsTer13
ENST00000409050.1:c.5779_5780insGAGTCCTGAACCCAGT ENSP00000386312.1:p.Ile1927ArgfsTer13
ENST00000423058.6:c.5863_5864insGAGTCCTGAACCCAGT ENSP00000407030.2:p.Ile1955ArgfsTer13
NM_001165963.1:c.5863_5864insGAGTCCTGAACCCAGT NP_001159435.1:p.Ile1955ArgfsTer13
NM_001165964.1:c.5779_5780insGAGTCCTGAACCCAGT NP_001159436.1:p.Ile1927ArgfsTer13
NM_001202435.1:c.5863_5864insGAGTCCTGAACCCAGT NP_001189364.1:p.Ile1955ArgfsTer13
NM_006920.4:c.5830_5831insGAGTCCTGAACCCAGT , LRG_8t1:c.5830_5831insGAGTCCTGAACCCAGT NP_008851.3:p.Ile1944ArgfsTer13
NR_110598.1:n.176-24202_176-24201insACTGGGTTCAGGACTC
XM_011511598.1:c.5863_5864insGAGTCCTGAACCCAGT XP_011509900.1:p.Ile1955ArgfsTer13
XM_011511599.1:c.5863_5864insGAGTCCTGAACCCAGT XP_011509901.1:p.Ile1955ArgfsTer13
XM_011511600.1:c.5863_5864insGAGTCCTGAACCCAGT XP_011509902.1:p.Ile1955ArgfsTer13
XM_011511601.1:c.5863_5864insGAGTCCTGAACCCAGT XP_011509903.1:p.Ile1955ArgfsTer13
XM_011511602.1:c.5863_5864insGAGTCCTGAACCCAGT XP_011509904.1:p.Ile1955ArgfsTer13
XM_011511603.1:c.5860_5861insGAGTCCTGAACCCAGT XP_011509905.1:p.Ile1954ArgfsTer13
XM_011511604.1:c.5830_5831insGAGTCCTGAACCCAGT XP_011509906.1:p.Ile1944ArgfsTer13
XM_011511605.1:c.5827_5828insGAGTCCTGAACCCAGT XP_011509907.1:p.Ile1943ArgfsTer13
XM_011511606.1:c.5779_5780insGAGTCCTGAACCCAGT XP_011509908.1:p.Ile1927ArgfsTer13
XM_011511607.1:c.5581_5582insGAGTCCTGAACCCAGT XP_011509909.1:p.Ile1861ArgfsTer13
NM_001165963.2:c.5863_5864insGAGTCCTGAACCCAGT NP_001159435.1:p.Ile1955ArgfsTer13
NM_001165964.2:c.5779_5780insGAGTCCTGAACCCAGT NP_001159436.1:p.Ile1927ArgfsTer13
NM_001202435.2:c.5863_5864insGAGTCCTGAACCCAGT NP_001189364.1:p.Ile1955ArgfsTer13
NM_001353948.1:c.5863_5864insGAGTCCTGAACCCAGT NP_001340877.1:p.Ile1955ArgfsTer13
NM_001353949.1:c.5830_5831insGAGTCCTGAACCCAGT NP_001340878.1:p.Ile1944ArgfsTer13
NM_001353950.1:c.5830_5831insGAGTCCTGAACCCAGT NP_001340879.1:p.Ile1944ArgfsTer13
NM_001353951.1:c.5830_5831insGAGTCCTGAACCCAGT NP_001340880.1:p.Ile1944ArgfsTer13
NM_001353952.1:c.5830_5831insGAGTCCTGAACCCAGT NP_001340881.1:p.Ile1944ArgfsTer13
NM_001353954.1:c.5827_5828insGAGTCCTGAACCCAGT NP_001340883.1:p.Ile1943ArgfsTer13
NM_001353955.1:c.5827_5828insGAGTCCTGAACCCAGT NP_001340884.1:p.Ile1943ArgfsTer13
NM_001353957.1:c.5779_5780insGAGTCCTGAACCCAGT NP_001340886.1:p.Ile1927ArgfsTer13
NM_001353958.1:c.5779_5780insGAGTCCTGAACCCAGT NP_001340887.1:p.Ile1927ArgfsTer13
NM_001353960.1:c.5776_5777insGAGTCCTGAACCCAGT NP_001340889.1:p.Ile1926ArgfsTer13
NM_001353961.1:c.3421_3422insGAGTCCTGAACCCAGT NP_001340890.1:p.Ile1141ArgfsTer13
NM_006920.5:c.5830_5831insGAGTCCTGAACCCAGT NP_008851.3:p.Ile1944ArgfsTer13
NR_148667.1:n.6299_6300insGAGTCCTGAACCCAGT
XR_001738883.1:n.6313_6314insGAGTCCTGAACCCAGT
XR_001738884.1:n.6285_6286insGAGTCCTGAACCCAGT
NM_001165963.3:c.5863_5864insGAGTCCTGAACCCAGT NP_001159435.1:p.Ile1955ArgfsTer13
NM_001165964.3:c.5779_5780insGAGTCCTGAACCCAGT NP_001159436.1:p.Ile1927ArgfsTer13
NM_001202435.3:c.5863_5864insGAGTCCTGAACCCAGT NP_001189364.1:p.Ile1955ArgfsTer13
NM_001353948.2:c.5863_5864insGAGTCCTGAACCCAGT NP_001340877.1:p.Ile1955ArgfsTer13
NM_001353949.2:c.5830_5831insGAGTCCTGAACCCAGT NP_001340878.1:p.Ile1944ArgfsTer13
NM_001353950.2:c.5830_5831insGAGTCCTGAACCCAGT NP_001340879.1:p.Ile1944ArgfsTer13
NM_001353951.2:c.5830_5831insGAGTCCTGAACCCAGT NP_001340880.1:p.Ile1944ArgfsTer13
NM_001353952.2:c.5830_5831insGAGTCCTGAACCCAGT NP_001340881.1:p.Ile1944ArgfsTer13
NM_001353954.2:c.5827_5828insGAGTCCTGAACCCAGT NP_001340883.1:p.Ile1943ArgfsTer13
NM_001353955.2:c.5827_5828insGAGTCCTGAACCCAGT NP_001340884.1:p.Ile1943ArgfsTer13
NM_001353957.2:c.5779_5780insGAGTCCTGAACCCAGT NP_001340886.1:p.Ile1927ArgfsTer13
NM_001353958.2:c.5779_5780insGAGTCCTGAACCCAGT NP_001340887.1:p.Ile1927ArgfsTer13
NM_001353960.2:c.5776_5777insGAGTCCTGAACCCAGT NP_001340889.1:p.Ile1926ArgfsTer13
NM_001353961.2:c.3421_3422insGAGTCCTGAACCCAGT NP_001340890.1:p.Ile1141ArgfsTer13
NM_006920.6:c.5830_5831insGAGTCCTGAACCCAGT NP_008851.3:p.Ile1944ArgfsTer13
NR_148667.2:n.6280_6281insGAGTCCTGAACCCAGT
NM_001165963.4:c.5863_5864insGAGTCCTGAACCCAGT MANE Select NP_001159435.1:p.Ile1955ArgfsTer13
Search 100 bp 5'
Search 100 bp 3'