Canonical Allele Identifier: CA2586970246

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991767_165991774dup , CM000664.2:g.165991767_165991774dup	GRCh38
NC_000002.11:g.166848277_166848284dup , CM000664.1:g.166848277_166848284dup	GRCh37
NC_000002.10:g.166556523_166556530dup	NCBI36
NG_011906.1:g.86867_86874dup , LRG_8:g.86867_86874dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*3538_*3545dup	ENSP00000509637.1:n.*3538_*3545dup
ENST00000303395.9:c.5502_5509dup	ENSP00000303540.4:p.Pro1837ArgfsTer24
ENST00000635750.1:c.5469_5476dup	ENSP00000490799.1:p.Pro1826ArgfsTer24
ENST00000635776.1:c.*2335_*2342dup	ENSP00000490692.1:n.*2335_*2342dup
ENST00000636194.1:c.*2995_*3002dup	ENSP00000490288.1:n.*2995_*3002dup
ENST00000637038.1:c.2364_2371dup
ENST00000637988.1:c.5469_5476dup	ENSP00000490780.1:p.Pro1826ArgfsTer24
ENST00000640036.1:c.5469_5476dup	ENSP00000491573.1:p.Pro1826ArgfsTer24
ENST00000641575.1:c.5466_5473dup	ENSP00000492917.1:p.Pro1825ArgfsTer24
ENST00000641603.1:c.5220_5227dup	ENSP00000492945.1:p.Pro1743ArgfsTer24
ENST00000641996.1:c.*5056_*5063dup	ENSP00000493054.1:n.*5056_*5063dup
ENST00000671940.1:c.*3445_*3452dup	ENSP00000500336.1:n.*3445_*3452dup
ENST00000673490.1:n.7975_7982dup
ENST00000674923.1:c.5502_5509dup MANE Select	ENSP00000501589.1:p.Pro1837ArgfsTer24
ENST00000303395.8:c.5502_5509dup	ENSP00000303540.4:p.Pro1837ArgfsTer24
ENST00000375405.7:c.5469_5476dup	ENSP00000364554.3:p.Pro1826ArgfsTer24
ENST00000409050.1:c.5418_5425dup	ENSP00000386312.1:p.Pro1809ArgfsTer24
ENST00000423058.6:c.5502_5509dup	ENSP00000407030.2:p.Pro1837ArgfsTer24
NM_001165963.1:c.5502_5509dup	NP_001159435.1:p.Pro1837ArgfsTer24
NM_001165964.1:c.5418_5425dup	NP_001159436.1:p.Pro1809ArgfsTer24
NM_001202435.1:c.5502_5509dup	NP_001189364.1:p.Pro1837ArgfsTer24
NM_006920.4:c.5469_5476dup , LRG_8t1:c.5469_5476dup	NP_008851.3:p.Pro1826ArgfsTer24
NR_110598.1:n.176-23846_176-23839dup
XM_011511598.1:c.5502_5509dup	XP_011509900.1:p.Pro1837ArgfsTer24
XM_011511599.1:c.5502_5509dup	XP_011509901.1:p.Pro1837ArgfsTer24
XM_011511600.1:c.5502_5509dup	XP_011509902.1:p.Pro1837ArgfsTer24
XM_011511601.1:c.5502_5509dup	XP_011509903.1:p.Pro1837ArgfsTer24
XM_011511602.1:c.5502_5509dup	XP_011509904.1:p.Pro1837ArgfsTer24
XM_011511603.1:c.5499_5506dup	XP_011509905.1:p.Pro1836ArgfsTer24
XM_011511604.1:c.5469_5476dup	XP_011509906.1:p.Pro1826ArgfsTer24
XM_011511605.1:c.5466_5473dup	XP_011509907.1:p.Pro1825ArgfsTer24
XM_011511606.1:c.5418_5425dup	XP_011509908.1:p.Pro1809ArgfsTer24
XM_011511607.1:c.5220_5227dup	XP_011509909.1:p.Pro1743ArgfsTer24
NM_001165963.2:c.5502_5509dup	NP_001159435.1:p.Pro1837ArgfsTer24
NM_001165964.2:c.5418_5425dup	NP_001159436.1:p.Pro1809ArgfsTer24
NM_001202435.2:c.5502_5509dup	NP_001189364.1:p.Pro1837ArgfsTer24
NM_001353948.1:c.5502_5509dup	NP_001340877.1:p.Pro1837ArgfsTer24
NM_001353949.1:c.5469_5476dup	NP_001340878.1:p.Pro1826ArgfsTer24
NM_001353950.1:c.5469_5476dup	NP_001340879.1:p.Pro1826ArgfsTer24
NM_001353951.1:c.5469_5476dup	NP_001340880.1:p.Pro1826ArgfsTer24
NM_001353952.1:c.5469_5476dup	NP_001340881.1:p.Pro1826ArgfsTer24
NM_001353954.1:c.5466_5473dup	NP_001340883.1:p.Pro1825ArgfsTer24
NM_001353955.1:c.5466_5473dup	NP_001340884.1:p.Pro1825ArgfsTer24
NM_001353957.1:c.5418_5425dup	NP_001340886.1:p.Pro1809ArgfsTer24
NM_001353958.1:c.5418_5425dup	NP_001340887.1:p.Pro1809ArgfsTer24
NM_001353960.1:c.5415_5422dup	NP_001340889.1:p.Pro1808ArgfsTer24
NM_001353961.1:c.3060_3067dup	NP_001340890.1:p.Pro1023ArgfsTer24
NM_006920.5:c.5469_5476dup	NP_008851.3:p.Pro1826ArgfsTer24
NR_148667.1:n.5938_5945dup
XR_001738883.1:n.5952_5959dup
XR_001738884.1:n.5924_5931dup
NM_001165963.3:c.5502_5509dup	NP_001159435.1:p.Pro1837ArgfsTer24
NM_001165964.3:c.5418_5425dup	NP_001159436.1:p.Pro1809ArgfsTer24
NM_001202435.3:c.5502_5509dup	NP_001189364.1:p.Pro1837ArgfsTer24
NM_001353948.2:c.5502_5509dup	NP_001340877.1:p.Pro1837ArgfsTer24
NM_001353949.2:c.5469_5476dup	NP_001340878.1:p.Pro1826ArgfsTer24
NM_001353950.2:c.5469_5476dup	NP_001340879.1:p.Pro1826ArgfsTer24
NM_001353951.2:c.5469_5476dup	NP_001340880.1:p.Pro1826ArgfsTer24
NM_001353952.2:c.5469_5476dup	NP_001340881.1:p.Pro1826ArgfsTer24
NM_001353954.2:c.5466_5473dup	NP_001340883.1:p.Pro1825ArgfsTer24
NM_001353955.2:c.5466_5473dup	NP_001340884.1:p.Pro1825ArgfsTer24
NM_001353957.2:c.5418_5425dup	NP_001340886.1:p.Pro1809ArgfsTer24
NM_001353958.2:c.5418_5425dup	NP_001340887.1:p.Pro1809ArgfsTer24
NM_001353960.2:c.5415_5422dup	NP_001340889.1:p.Pro1808ArgfsTer24
NM_001353961.2:c.3060_3067dup	NP_001340890.1:p.Pro1023ArgfsTer24
NM_006920.6:c.5469_5476dup	NP_008851.3:p.Pro1826ArgfsTer24
NR_148667.2:n.5919_5926dup
NM_001165963.4:c.5502_5509dup MANE Select	NP_001159435.1:p.Pro1837ArgfsTer24