Canonical Allele Identifier: CA2573133506
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1448729
ClinVar RCV Id: RCV002012226
dbSNP Id: rs2105827235

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166041231del , CM000664.2:g.166041231del GRCh38
NC_000002.11:g.166897741del , CM000664.1:g.166897741del GRCh37
NC_000002.10:g.166605987del NCBI36
NG_011906.1:g.37410del , LRG_8:g.37410del

Transcript Alleles

HGVS Amino-acid change
ENST00000689288.1:c.*451+1del
ENST00000303395.9:c.2415+1del
ENST00000635750.1:c.2382+1del
ENST00000635776.1:c.2382+1del
ENST00000636194.1:c.2383del ENSP00000490288.1:p.Val795Ter
ENST00000636759.1:c.*2205+1del
ENST00000637968.1:n.2667+1del
ENST00000637988.1:c.2382+1del
ENST00000640036.1:c.2382+1del
ENST00000641575.1:c.2379+1del
ENST00000641603.1:c.2415+1del
ENST00000641996.1:c.*1969+1del
ENST00000671940.1:c.*358+1del
ENST00000673490.1:n.4888+1del
ENST00000674923.1:c.2415+1del
ENST00000303395.8:c.2415+1del
ENST00000375405.7:c.2382+1del
ENST00000409050.1:c.2331+1del
ENST00000423058.6:c.2415+1del
NM_001165963.1:c.2415+1del
NM_001165964.1:c.2331+1del
NM_001202435.1:c.2415+1del
NM_006920.4:c.2382+1del , LRG_8t1:c.2382+1del
XM_011511598.1:c.2415+1del
XM_011511599.1:c.2415+1del
XM_011511600.1:c.2415+1del
XM_011511601.1:c.2415+1del
XM_011511602.1:c.2415+1del
XM_011511603.1:c.2412+1del
XM_011511604.1:c.2382+1del
XM_011511605.1:c.2379+1del
XM_011511606.1:c.2331+1del
XM_011511607.1:c.2415+1del
XR_922981.1:n.2599+1del
NM_001165963.2:c.2415+1del
NM_001165964.2:c.2331+1del
NM_001202435.2:c.2415+1del
NM_001353948.1:c.2415+1del
NM_001353949.1:c.2382+1del
NM_001353950.1:c.2382+1del
NM_001353951.1:c.2382+1del
NM_001353952.1:c.2382+1del
NM_001353954.1:c.2379+1del
NM_001353955.1:c.2379+1del
NM_001353957.1:c.2331+1del
NM_001353958.1:c.2331+1del
NM_001353960.1:c.2328+1del
NM_001353961.1:c.-43del NP_001340890.1:n.-43del
NM_006920.5:c.2382+1del
NR_148667.1:n.2787+1del
XR_001738883.1:n.2801+1del
XR_001738884.1:n.2773+1del
NM_001165963.3:c.2415+1del
NM_001165964.3:c.2331+1del
NM_001202435.3:c.2415+1del
NM_001353948.2:c.2415+1del
NM_001353949.2:c.2382+1del
NM_001353950.2:c.2382+1del
NM_001353951.2:c.2382+1del
NM_001353952.2:c.2382+1del
NM_001353954.2:c.2379+1del
NM_001353955.2:c.2379+1del
NM_001353957.2:c.2331+1del
NM_001353958.2:c.2331+1del
NM_001353960.2:c.2328+1del
NM_001353961.2:c.-43del NP_001340890.1:n.-43del
NM_006920.6:c.2382+1del
NR_148667.2:n.2768+1del
NM_001165963.4:c.2415+1del