Canonical Allele Identifier: CA1304847346
Gene: SCN1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166009851_166009852delinsCA , CM000664.2:g.166009851_166009852delinsCA GRCh38
NC_000002.11:g.166866361_166866362delinsCA , CM000664.1:g.166866361_166866362delinsCA GRCh37
NC_000002.10:g.166574607_166574608delinsCA NCBI36
NG_011906.1:g.68788_68789delinsTG , LRG_8:g.68788_68789delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000689288.1:c.*1916-11_*1916-10delinsTG ENSP00000509637.1:n.*1916-11_*1916-10delinsTG
ENST00000303395.9:c.3880-11_3880-10delinsTG ENSP00000303540.4:n.3880-11_3880-10delinsTG
ENST00000635750.1:c.3847-11_3847-10delinsTG ENSP00000490799.1:n.3847-11_3847-10delinsTG
ENST00000635776.1:c.3847-11_3847-10delinsTG ENSP00000490692.1:n.3847-11_3847-10delinsTG
ENST00000636194.1:c.*1373-11_*1373-10delinsTG ENSP00000490288.1:n.*1373-11_*1373-10delinsTG
ENST00000637038.1:c.678-11_678-10delinsTG
ENST00000637968.1:n.4132-11_4132-10delinsTG
ENST00000637988.1:c.3847-11_3847-10delinsTG ENSP00000490780.1:n.3847-11_3847-10delinsTG
ENST00000640036.1:c.3847-11_3847-10delinsTG ENSP00000491573.1:n.3847-11_3847-10delinsTG
ENST00000641575.1:c.3844-11_3844-10delinsTG ENSP00000492917.1:n.3844-11_3844-10delinsTG
ENST00000641603.1:c.3880-11_3880-10delinsTG ENSP00000492945.1:n.3880-11_3880-10delinsTG
ENST00000641996.1:c.*3434-11_*3434-10delinsTG ENSP00000493054.1:n.*3434-11_*3434-10delinsTG
ENST00000671940.1:c.*1823-11_*1823-10delinsTG ENSP00000500336.1:n.*1823-11_*1823-10delinsTG
ENST00000673490.1:n.6353-11_6353-10delinsTG
ENST00000674923.1:c.3880-11_3880-10delinsTG MANE Select ENSP00000501589.1:n.3880-11_3880-10delinsTG
ENST00000303395.8:c.3880-11_3880-10delinsTG ENSP00000303540.4:n.3880-11_3880-10delinsTG
ENST00000375405.7:c.3847-11_3847-10delinsTG ENSP00000364554.3:n.3847-11_3847-10delinsTG
ENST00000409050.1:c.3796-11_3796-10delinsTG ENSP00000386312.1:n.3796-11_3796-10delinsTG
ENST00000423058.6:c.3880-11_3880-10delinsTG ENSP00000407030.2:n.3880-11_3880-10delinsTG
NM_001165963.1:c.3880-11_3880-10delinsTG NP_001159435.1:n.3880-11_3880-10delinsTG
NM_001165964.1:c.3796-11_3796-10delinsTG NP_001159436.1:n.3796-11_3796-10delinsTG
NM_001202435.1:c.3880-11_3880-10delinsTG NP_001189364.1:n.3880-11_3880-10delinsTG
NM_006920.4:c.3847-11_3847-10delinsTG , LRG_8t1:c.3847-11_3847-10delinsTG NP_008851.3:n.3847-11_3847-10delinsTG
NR_110598.1:n.176-5762_176-5761delinsCA
XM_011511598.1:c.3880-11_3880-10delinsTG XP_011509900.1:n.3880-11_3880-10delinsTG
XM_011511599.1:c.3880-11_3880-10delinsTG XP_011509901.1:n.3880-11_3880-10delinsTG
XM_011511600.1:c.3880-11_3880-10delinsTG XP_011509902.1:n.3880-11_3880-10delinsTG
XM_011511601.1:c.3880-11_3880-10delinsTG XP_011509903.1:n.3880-11_3880-10delinsTG
XM_011511602.1:c.3880-11_3880-10delinsTG XP_011509904.1:n.3880-11_3880-10delinsTG
XM_011511603.1:c.3877-11_3877-10delinsTG XP_011509905.1:n.3877-11_3877-10delinsTG
XM_011511604.1:c.3847-11_3847-10delinsTG XP_011509906.1:n.3847-11_3847-10delinsTG
XM_011511605.1:c.3844-11_3844-10delinsTG XP_011509907.1:n.3844-11_3844-10delinsTG
XM_011511606.1:c.3796-11_3796-10delinsTG XP_011509908.1:n.3796-11_3796-10delinsTG
XM_011511607.1:c.3880-11_3880-10delinsTG XP_011509909.1:n.3880-11_3880-10delinsTG
XR_922981.1:n.4064-11_4064-10delinsTG
NM_001165963.2:c.3880-11_3880-10delinsTG NP_001159435.1:n.3880-11_3880-10delinsTG
NM_001165964.2:c.3796-11_3796-10delinsTG NP_001159436.1:n.3796-11_3796-10delinsTG
NM_001202435.2:c.3880-11_3880-10delinsTG NP_001189364.1:n.3880-11_3880-10delinsTG
NM_001353948.1:c.3880-11_3880-10delinsTG NP_001340877.1:n.3880-11_3880-10delinsTG
NM_001353949.1:c.3847-11_3847-10delinsTG NP_001340878.1:n.3847-11_3847-10delinsTG
NM_001353950.1:c.3847-11_3847-10delinsTG NP_001340879.1:n.3847-11_3847-10delinsTG
NM_001353951.1:c.3847-11_3847-10delinsTG NP_001340880.1:n.3847-11_3847-10delinsTG
NM_001353952.1:c.3847-11_3847-10delinsTG NP_001340881.1:n.3847-11_3847-10delinsTG
NM_001353954.1:c.3844-11_3844-10delinsTG NP_001340883.1:n.3844-11_3844-10delinsTG
NM_001353955.1:c.3844-11_3844-10delinsTG NP_001340884.1:n.3844-11_3844-10delinsTG
NM_001353957.1:c.3796-11_3796-10delinsTG NP_001340886.1:n.3796-11_3796-10delinsTG
NM_001353958.1:c.3796-11_3796-10delinsTG NP_001340887.1:n.3796-11_3796-10delinsTG
NM_001353960.1:c.3793-11_3793-10delinsTG NP_001340889.1:n.3793-11_3793-10delinsTG
NM_001353961.1:c.1438-11_1438-10delinsTG NP_001340890.1:n.1438-11_1438-10delinsTG
NM_006920.5:c.3847-11_3847-10delinsTG NP_008851.3:n.3847-11_3847-10delinsTG
NR_148667.1:n.4252-11_4252-10delinsTG
XR_001738883.1:n.4266-11_4266-10delinsTG
XR_001738884.1:n.4238-11_4238-10delinsTG
NM_001165963.3:c.3880-11_3880-10delinsTG NP_001159435.1:n.3880-11_3880-10delinsTG
NM_001165964.3:c.3796-11_3796-10delinsTG NP_001159436.1:n.3796-11_3796-10delinsTG
NM_001202435.3:c.3880-11_3880-10delinsTG NP_001189364.1:n.3880-11_3880-10delinsTG
NM_001353948.2:c.3880-11_3880-10delinsTG NP_001340877.1:n.3880-11_3880-10delinsTG
NM_001353949.2:c.3847-11_3847-10delinsTG NP_001340878.1:n.3847-11_3847-10delinsTG
NM_001353950.2:c.3847-11_3847-10delinsTG NP_001340879.1:n.3847-11_3847-10delinsTG
NM_001353951.2:c.3847-11_3847-10delinsTG NP_001340880.1:n.3847-11_3847-10delinsTG
NM_001353952.2:c.3847-11_3847-10delinsTG NP_001340881.1:n.3847-11_3847-10delinsTG
NM_001353954.2:c.3844-11_3844-10delinsTG NP_001340883.1:n.3844-11_3844-10delinsTG
NM_001353955.2:c.3844-11_3844-10delinsTG NP_001340884.1:n.3844-11_3844-10delinsTG
NM_001353957.2:c.3796-11_3796-10delinsTG NP_001340886.1:n.3796-11_3796-10delinsTG
NM_001353958.2:c.3796-11_3796-10delinsTG NP_001340887.1:n.3796-11_3796-10delinsTG
NM_001353960.2:c.3793-11_3793-10delinsTG NP_001340889.1:n.3793-11_3793-10delinsTG
NM_001353961.2:c.1438-11_1438-10delinsTG NP_001340890.1:n.1438-11_1438-10delinsTG
NM_006920.6:c.3847-11_3847-10delinsTG NP_008851.3:n.3847-11_3847-10delinsTG
NR_148667.2:n.4233-11_4233-10delinsTG
NM_001165963.4:c.3880-11_3880-10delinsTG MANE Select NP_001159435.1:n.3880-11_3880-10delinsTG
Search 100 bp 5'
Search 100 bp 3'