Canonical Allele Identifier: CA303525

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 190003
• ClinVar RCV Id: RCV000180959
• dbSNP Id: rs794726832
• MyVariant Identifiers: chr2:g.166848487_166848488del (hg19) ; chr2:g.165991977_165991978del (hg38)
• PubMed: PMID:26096185

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991981_165991982del , CM000664.2:g.165991981_165991982del	GRCh38
NC_000002.11:g.166848491_166848492del , CM000664.1:g.166848491_166848492del	GRCh37
NC_000002.10:g.166556737_166556738del	NCBI36
NG_011906.1:g.86662_86663del , LRG_8:g.86662_86663del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*3333_*3334del	ENSP00000509637.1:n.*3333_*3334del
ENST00000303395.9:c.5297_5298del	ENSP00000303540.4:p.Phe1766CysfsTer28
ENST00000635750.1:c.5264_5265del	ENSP00000490799.1:p.Phe1755CysfsTer28
ENST00000635776.1:c.*2130_*2131del	ENSP00000490692.1:n.*2130_*2131del
ENST00000636194.1:c.*2790_*2791del	ENSP00000490288.1:n.*2790_*2791del
ENST00000637038.1:c.2159_2160del
ENST00000637988.1:c.5264_5265del	ENSP00000490780.1:p.Phe1755CysfsTer28
ENST00000640036.1:c.5264_5265del	ENSP00000491573.1:p.Phe1755CysfsTer28
ENST00000641575.1:c.5261_5262del	ENSP00000492917.1:p.Phe1754CysfsTer28
ENST00000641603.1:c.5015_5016del	ENSP00000492945.1:p.Phe1672CysfsTer28
ENST00000641996.1:c.*4851_*4852del	ENSP00000493054.1:n.*4851_*4852del
ENST00000671940.1:c.*3240_*3241del	ENSP00000500336.1:n.*3240_*3241del
ENST00000673490.1:n.7770_7771del
ENST00000674923.1:c.5297_5298del MANE Select	ENSP00000501589.1:p.Phe1766CysfsTer28
ENST00000303395.8:c.5297_5298del	ENSP00000303540.4:p.Phe1766CysfsTer28
ENST00000375405.7:c.5264_5265del	ENSP00000364554.3:p.Phe1755CysfsTer28
ENST00000409050.1:c.5213_5214del	ENSP00000386312.1:p.Phe1738CysfsTer28
ENST00000423058.6:c.5297_5298del	ENSP00000407030.2:p.Phe1766CysfsTer28
NM_001165963.1:c.5297_5298del	NP_001159435.1:p.Phe1766CysfsTer28
NM_001165964.1:c.5213_5214del	NP_001159436.1:p.Phe1738CysfsTer28
NM_001202435.1:c.5297_5298del	NP_001189364.1:p.Phe1766CysfsTer28
NM_006920.4:c.5264_5265del , LRG_8t1:c.5264_5265del	NP_008851.3:p.Phe1755CysfsTer28
NR_110598.1:n.176-23632_176-23631del
XM_011511598.1:c.5297_5298del	XP_011509900.1:p.Phe1766CysfsTer28
XM_011511599.1:c.5297_5298del	XP_011509901.1:p.Phe1766CysfsTer28
XM_011511600.1:c.5297_5298del	XP_011509902.1:p.Phe1766CysfsTer28
XM_011511601.1:c.5297_5298del	XP_011509903.1:p.Phe1766CysfsTer28
XM_011511602.1:c.5297_5298del	XP_011509904.1:p.Phe1766CysfsTer28
XM_011511603.1:c.5294_5295del	XP_011509905.1:p.Phe1765CysfsTer28
XM_011511604.1:c.5264_5265del	XP_011509906.1:p.Phe1755CysfsTer28
XM_011511605.1:c.5261_5262del	XP_011509907.1:p.Phe1754CysfsTer28
XM_011511606.1:c.5213_5214del	XP_011509908.1:p.Phe1738CysfsTer28
XM_011511607.1:c.5015_5016del	XP_011509909.1:p.Phe1672CysfsTer28
NM_001165963.2:c.5297_5298del	NP_001159435.1:p.Phe1766CysfsTer28
NM_001165964.2:c.5213_5214del	NP_001159436.1:p.Phe1738CysfsTer28
NM_001202435.2:c.5297_5298del	NP_001189364.1:p.Phe1766CysfsTer28
NM_001353948.1:c.5297_5298del	NP_001340877.1:p.Phe1766CysfsTer28
NM_001353949.1:c.5264_5265del	NP_001340878.1:p.Phe1755CysfsTer28
NM_001353950.1:c.5264_5265del	NP_001340879.1:p.Phe1755CysfsTer28
NM_001353951.1:c.5264_5265del	NP_001340880.1:p.Phe1755CysfsTer28
NM_001353952.1:c.5264_5265del	NP_001340881.1:p.Phe1755CysfsTer28
NM_001353954.1:c.5261_5262del	NP_001340883.1:p.Phe1754CysfsTer28
NM_001353955.1:c.5261_5262del	NP_001340884.1:p.Phe1754CysfsTer28
NM_001353957.1:c.5213_5214del	NP_001340886.1:p.Phe1738CysfsTer28
NM_001353958.1:c.5213_5214del	NP_001340887.1:p.Phe1738CysfsTer28
NM_001353960.1:c.5210_5211del	NP_001340889.1:p.Phe1737CysfsTer28
NM_001353961.1:c.2855_2856del	NP_001340890.1:p.Phe952CysfsTer28
NM_006920.5:c.5264_5265del	NP_008851.3:p.Phe1755CysfsTer28
NR_148667.1:n.5733_5734del
XR_001738883.1:n.5747_5748del
XR_001738884.1:n.5719_5720del
NM_001165963.3:c.5297_5298del	NP_001159435.1:p.Phe1766CysfsTer28
NM_001165964.3:c.5213_5214del	NP_001159436.1:p.Phe1738CysfsTer28
NM_001202435.3:c.5297_5298del	NP_001189364.1:p.Phe1766CysfsTer28
NM_001353948.2:c.5297_5298del	NP_001340877.1:p.Phe1766CysfsTer28
NM_001353949.2:c.5264_5265del	NP_001340878.1:p.Phe1755CysfsTer28
NM_001353950.2:c.5264_5265del	NP_001340879.1:p.Phe1755CysfsTer28
NM_001353951.2:c.5264_5265del	NP_001340880.1:p.Phe1755CysfsTer28
NM_001353952.2:c.5264_5265del	NP_001340881.1:p.Phe1755CysfsTer28
NM_001353954.2:c.5261_5262del	NP_001340883.1:p.Phe1754CysfsTer28
NM_001353955.2:c.5261_5262del	NP_001340884.1:p.Phe1754CysfsTer28
NM_001353957.2:c.5213_5214del	NP_001340886.1:p.Phe1738CysfsTer28
NM_001353958.2:c.5213_5214del	NP_001340887.1:p.Phe1738CysfsTer28
NM_001353960.2:c.5210_5211del	NP_001340889.1:p.Phe1737CysfsTer28
NM_001353961.2:c.2855_2856del	NP_001340890.1:p.Phe952CysfsTer28
NM_006920.6:c.5264_5265del	NP_008851.3:p.Phe1755CysfsTer28
NR_148667.2:n.5714_5715del
NM_001165963.4:c.5297_5298del MANE Select	NP_001159435.1:p.Phe1766CysfsTer28