Canonical Allele Identifier: CA645293938
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 427019
ClinVar RCV Id: RCV000489185
dbSNP Id: rs1085307901
MyVariant Identifiers: chr2:g.166848379_166848382del (hg19) chr2:g.165991869_165991872del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165991873_165991876del , CM000664.2:g.165991873_165991876del GRCh38
NC_000002.11:g.166848383_166848386del , CM000664.1:g.166848383_166848386del GRCh37
NC_000002.10:g.166556629_166556632del NCBI36
NG_011906.1:g.86768_86771del , LRG_8:g.86768_86771del

Transcript Alleles

HGVS Amino-acid change
ENST00000689288.1:c.*3439_*3442del ENSP00000509637.1:n.*3439_*3442del
ENST00000303395.9:c.5403_5406del ENSP00000303540.4:p.Ser1801ArgfsTer?
ENST00000635750.1:c.5370_5373del ENSP00000490799.1:p.Ser1790ArgfsTer?
ENST00000635776.1:c.*2236_*2239del ENSP00000490692.1:n.*2236_*2239del
ENST00000636194.1:c.*2896_*2899del ENSP00000490288.1:n.*2896_*2899del
ENST00000637038.1:c.2265_2268del
ENST00000637988.1:c.5370_5373del ENSP00000490780.1:p.Ser1790ArgfsTer?
ENST00000640036.1:c.5370_5373del ENSP00000491573.1:p.Ser1790ArgfsTer?
ENST00000641575.1:c.5367_5370del ENSP00000492917.1:p.Ser1789ArgfsTer?
ENST00000641603.1:c.5121_5124del ENSP00000492945.1:p.Ser1707ArgfsTer?
ENST00000641996.1:c.*4957_*4960del ENSP00000493054.1:n.*4957_*4960del
ENST00000671940.1:c.*3346_*3349del ENSP00000500336.1:n.*3346_*3349del
ENST00000673490.1:n.7876_7879del
ENST00000674923.1:c.5403_5406del MANE Select ENSP00000501589.1:p.Ser1801ArgfsTer?
ENST00000303395.8:c.5403_5406del ENSP00000303540.4:p.Ser1801ArgfsTer?
ENST00000375405.7:c.5370_5373del ENSP00000364554.3:p.Ser1790ArgfsTer?
ENST00000409050.1:c.5319_5322del ENSP00000386312.1:p.Ser1773ArgfsTer?
ENST00000423058.6:c.5403_5406del ENSP00000407030.2:p.Ser1801ArgfsTer?
NM_001165963.1:c.5403_5406del NP_001159435.1:p.Ser1801ArgfsTer?
NM_001165964.1:c.5319_5322del NP_001159436.1:p.Ser1773ArgfsTer?
NM_001202435.1:c.5403_5406del NP_001189364.1:p.Ser1801ArgfsTer?
NM_006920.4:c.5370_5373del , LRG_8t1:c.5370_5373del NP_008851.3:p.Ser1790ArgfsTer?
NR_110598.1:n.176-23740_176-23737del
XM_011511598.1:c.5403_5406del XP_011509900.1:p.Ser1801ArgfsTer?
XM_011511599.1:c.5403_5406del XP_011509901.1:p.Ser1801ArgfsTer?
XM_011511600.1:c.5403_5406del XP_011509902.1:p.Ser1801ArgfsTer?
XM_011511601.1:c.5403_5406del XP_011509903.1:p.Ser1801ArgfsTer?
XM_011511602.1:c.5403_5406del XP_011509904.1:p.Ser1801ArgfsTer?
XM_011511603.1:c.5400_5403del XP_011509905.1:p.Ser1800ArgfsTer?
XM_011511604.1:c.5370_5373del XP_011509906.1:p.Ser1790ArgfsTer?
XM_011511605.1:c.5367_5370del XP_011509907.1:p.Ser1789ArgfsTer?
XM_011511606.1:c.5319_5322del XP_011509908.1:p.Ser1773ArgfsTer?
XM_011511607.1:c.5121_5124del XP_011509909.1:p.Ser1707ArgfsTer?
NM_001165963.2:c.5403_5406del NP_001159435.1:p.Ser1801ArgfsTer?
NM_001165964.2:c.5319_5322del NP_001159436.1:p.Ser1773ArgfsTer?
NM_001202435.2:c.5403_5406del NP_001189364.1:p.Ser1801ArgfsTer?
NM_001353948.1:c.5403_5406del NP_001340877.1:p.Ser1801ArgfsTer?
NM_001353949.1:c.5370_5373del NP_001340878.1:p.Ser1790ArgfsTer?
NM_001353950.1:c.5370_5373del NP_001340879.1:p.Ser1790ArgfsTer?
NM_001353951.1:c.5370_5373del NP_001340880.1:p.Ser1790ArgfsTer?
NM_001353952.1:c.5370_5373del NP_001340881.1:p.Ser1790ArgfsTer?
NM_001353954.1:c.5367_5370del NP_001340883.1:p.Ser1789ArgfsTer?
NM_001353955.1:c.5367_5370del NP_001340884.1:p.Ser1789ArgfsTer?
NM_001353957.1:c.5319_5322del NP_001340886.1:p.Ser1773ArgfsTer?
NM_001353958.1:c.5319_5322del NP_001340887.1:p.Ser1773ArgfsTer?
NM_001353960.1:c.5316_5319del NP_001340889.1:p.Ser1772ArgfsTer?
NM_001353961.1:c.2961_2964del NP_001340890.1:p.Ser987ArgfsTer?
NM_006920.5:c.5370_5373del NP_008851.3:p.Ser1790ArgfsTer?
NR_148667.1:n.5839_5842del
XR_001738883.1:n.5853_5856del
XR_001738884.1:n.5825_5828del
NM_001165963.3:c.5403_5406del NP_001159435.1:p.Ser1801ArgfsTer?
NM_001165964.3:c.5319_5322del NP_001159436.1:p.Ser1773ArgfsTer?
NM_001202435.3:c.5403_5406del NP_001189364.1:p.Ser1801ArgfsTer?
NM_001353948.2:c.5403_5406del NP_001340877.1:p.Ser1801ArgfsTer?
NM_001353949.2:c.5370_5373del NP_001340878.1:p.Ser1790ArgfsTer?
NM_001353950.2:c.5370_5373del NP_001340879.1:p.Ser1790ArgfsTer?
NM_001353951.2:c.5370_5373del NP_001340880.1:p.Ser1790ArgfsTer?
NM_001353952.2:c.5370_5373del NP_001340881.1:p.Ser1790ArgfsTer?
NM_001353954.2:c.5367_5370del NP_001340883.1:p.Ser1789ArgfsTer?
NM_001353955.2:c.5367_5370del NP_001340884.1:p.Ser1789ArgfsTer?
NM_001353957.2:c.5319_5322del NP_001340886.1:p.Ser1773ArgfsTer?
NM_001353958.2:c.5319_5322del NP_001340887.1:p.Ser1773ArgfsTer?
NM_001353960.2:c.5316_5319del NP_001340889.1:p.Ser1772ArgfsTer?
NM_001353961.2:c.2961_2964del NP_001340890.1:p.Ser987ArgfsTer?
NM_006920.6:c.5370_5373del NP_008851.3:p.Ser1790ArgfsTer?
NR_148667.2:n.5820_5823del
NM_001165963.4:c.5403_5406del MANE Select NP_001159435.1:p.Ser1801ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'