Canonical Allele Identifier: CA2697551212

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 2726761
• ClinVar RCV Id: RCV003588163

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991994_165991995del , CM000664.2:g.165991994_165991995del	GRCh38
NC_000002.11:g.166848504_166848505del , CM000664.1:g.166848504_166848505del	GRCh37
NC_000002.10:g.166556750_166556751del	NCBI36
NG_011906.1:g.86646_86647del , LRG_8:g.86646_86647del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*3317_*3318del	ENSP00000509637.1:n.*3317_*3318del
ENST00000303395.9:c.5281_5282del	ENSP00000303540.4:p.Val1761TrpfsTer?
ENST00000635750.1:c.5248_5249del	ENSP00000490799.1:p.Val1750TrpfsTer?
ENST00000635776.1:c.*2114_*2115del	ENSP00000490692.1:n.*2114_*2115del
ENST00000636194.1:c.*2774_*2775del	ENSP00000490288.1:n.*2774_*2775del
ENST00000637038.1:c.2143_2144del
ENST00000637988.1:c.5248_5249del	ENSP00000490780.1:p.Val1750TrpfsTer?
ENST00000640036.1:c.5248_5249del	ENSP00000491573.1:p.Val1750TrpfsTer?
ENST00000641575.1:c.5245_5246del	ENSP00000492917.1:p.Val1749TrpfsTer?
ENST00000641603.1:c.4999_5000del	ENSP00000492945.1:p.Val1667TrpfsTer?
ENST00000641996.1:c.*4835_*4836del	ENSP00000493054.1:n.*4835_*4836del
ENST00000671940.1:c.*3224_*3225del	ENSP00000500336.1:n.*3224_*3225del
ENST00000673490.1:n.7754_7755del
ENST00000674923.1:c.5281_5282del MANE Select	ENSP00000501589.1:p.Val1761TrpfsTer?
ENST00000303395.8:c.5281_5282del	ENSP00000303540.4:p.Val1761TrpfsTer?
ENST00000375405.7:c.5248_5249del	ENSP00000364554.3:p.Val1750TrpfsTer?
ENST00000409050.1:c.5197_5198del	ENSP00000386312.1:p.Val1733TrpfsTer?
ENST00000423058.6:c.5281_5282del	ENSP00000407030.2:p.Val1761TrpfsTer?
NM_001165963.1:c.5281_5282del	NP_001159435.1:p.Val1761TrpfsTer?
NM_001165964.1:c.5197_5198del	NP_001159436.1:p.Val1733TrpfsTer?
NM_001202435.1:c.5281_5282del	NP_001189364.1:p.Val1761TrpfsTer?
NM_006920.4:c.5248_5249del , LRG_8t1:c.5248_5249del	NP_008851.3:p.Val1750TrpfsTer?
NR_110598.1:n.176-23619_176-23618del
XM_011511598.1:c.5281_5282del	XP_011509900.1:p.Val1761TrpfsTer?
XM_011511599.1:c.5281_5282del	XP_011509901.1:p.Val1761TrpfsTer?
XM_011511600.1:c.5281_5282del	XP_011509902.1:p.Val1761TrpfsTer?
XM_011511601.1:c.5281_5282del	XP_011509903.1:p.Val1761TrpfsTer?
XM_011511602.1:c.5281_5282del	XP_011509904.1:p.Val1761TrpfsTer?
XM_011511603.1:c.5278_5279del	XP_011509905.1:p.Val1760TrpfsTer?
XM_011511604.1:c.5248_5249del	XP_011509906.1:p.Val1750TrpfsTer?
XM_011511605.1:c.5245_5246del	XP_011509907.1:p.Val1749TrpfsTer?
XM_011511606.1:c.5197_5198del	XP_011509908.1:p.Val1733TrpfsTer?
XM_011511607.1:c.4999_5000del	XP_011509909.1:p.Val1667TrpfsTer?
NM_001165963.2:c.5281_5282del	NP_001159435.1:p.Val1761TrpfsTer?
NM_001165964.2:c.5197_5198del	NP_001159436.1:p.Val1733TrpfsTer?
NM_001202435.2:c.5281_5282del	NP_001189364.1:p.Val1761TrpfsTer?
NM_001353948.1:c.5281_5282del	NP_001340877.1:p.Val1761TrpfsTer?
NM_001353949.1:c.5248_5249del	NP_001340878.1:p.Val1750TrpfsTer?
NM_001353950.1:c.5248_5249del	NP_001340879.1:p.Val1750TrpfsTer?
NM_001353951.1:c.5248_5249del	NP_001340880.1:p.Val1750TrpfsTer?
NM_001353952.1:c.5248_5249del	NP_001340881.1:p.Val1750TrpfsTer?
NM_001353954.1:c.5245_5246del	NP_001340883.1:p.Val1749TrpfsTer?
NM_001353955.1:c.5245_5246del	NP_001340884.1:p.Val1749TrpfsTer?
NM_001353957.1:c.5197_5198del	NP_001340886.1:p.Val1733TrpfsTer?
NM_001353958.1:c.5197_5198del	NP_001340887.1:p.Val1733TrpfsTer?
NM_001353960.1:c.5194_5195del	NP_001340889.1:p.Val1732TrpfsTer?
NM_001353961.1:c.2839_2840del	NP_001340890.1:p.Val947TrpfsTer?
NM_006920.5:c.5248_5249del	NP_008851.3:p.Val1750TrpfsTer?
NR_148667.1:n.5717_5718del
XR_001738883.1:n.5731_5732del
XR_001738884.1:n.5703_5704del
NM_001165963.3:c.5281_5282del	NP_001159435.1:p.Val1761TrpfsTer?
NM_001165964.3:c.5197_5198del	NP_001159436.1:p.Val1733TrpfsTer?
NM_001202435.3:c.5281_5282del	NP_001189364.1:p.Val1761TrpfsTer?
NM_001353948.2:c.5281_5282del	NP_001340877.1:p.Val1761TrpfsTer?
NM_001353949.2:c.5248_5249del	NP_001340878.1:p.Val1750TrpfsTer?
NM_001353950.2:c.5248_5249del	NP_001340879.1:p.Val1750TrpfsTer?
NM_001353951.2:c.5248_5249del	NP_001340880.1:p.Val1750TrpfsTer?
NM_001353952.2:c.5248_5249del	NP_001340881.1:p.Val1750TrpfsTer?
NM_001353954.2:c.5245_5246del	NP_001340883.1:p.Val1749TrpfsTer?
NM_001353955.2:c.5245_5246del	NP_001340884.1:p.Val1749TrpfsTer?
NM_001353957.2:c.5197_5198del	NP_001340886.1:p.Val1733TrpfsTer?
NM_001353958.2:c.5197_5198del	NP_001340887.1:p.Val1733TrpfsTer?
NM_001353960.2:c.5194_5195del	NP_001340889.1:p.Val1732TrpfsTer?
NM_001353961.2:c.2839_2840del	NP_001340890.1:p.Val947TrpfsTer?
NM_006920.6:c.5248_5249del	NP_008851.3:p.Val1750TrpfsTer?
NR_148667.2:n.5698_5699del
NM_001165963.4:c.5281_5282del MANE Select	NP_001159435.1:p.Val1761TrpfsTer?