Canonical Allele Identifier: CA658820878

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165992206_165992207delinsC , CM000664.2:g.165992206_165992207delinsC	GRCh38
NC_000002.11:g.166848716_166848717delinsC , CM000664.1:g.166848716_166848717delinsC	GRCh37
NC_000002.10:g.166556962_166556963delinsC	NCBI36
NG_011906.1:g.86433_86434delinsG , LRG_8:g.86433_86434delinsG

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*3104_*3105delinsG	ENSP00000509637.1:n.*3104_*3105delinsG
ENST00000303395.9:c.5068_5069delinsG	ENSP00000303540.4:p.Ser1690AlafsTer25
ENST00000635750.1:c.5035_5036delinsG	ENSP00000490799.1:p.Ser1679AlafsTer25
ENST00000635776.1:c.*1901_*1902delinsG	ENSP00000490692.1:n.*1901_*1902delinsG
ENST00000636194.1:c.*2561_*2562delinsG	ENSP00000490288.1:n.*2561_*2562delinsG
ENST00000637038.1:c.1930_1931delinsG
ENST00000637988.1:c.5035_5036delinsG	ENSP00000490780.1:p.Ser1679AlafsTer25
ENST00000640036.1:c.5035_5036delinsG	ENSP00000491573.1:p.Ser1679AlafsTer25
ENST00000641575.1:c.5032_5033delinsG	ENSP00000492917.1:p.Ser1678AlafsTer25
ENST00000641603.1:c.4786_4787delinsG	ENSP00000492945.1:p.Ser1596AlafsTer25
ENST00000641996.1:c.*4622_*4623delinsG	ENSP00000493054.1:n.*4622_*4623delinsG
ENST00000671940.1:c.*3011_*3012delinsG	ENSP00000500336.1:n.*3011_*3012delinsG
ENST00000673490.1:n.7541_7542delinsG
ENST00000674923.1:c.5068_5069delinsG MANE Select	ENSP00000501589.1:p.Ser1690AlafsTer25
ENST00000303395.8:c.5068_5069delinsG	ENSP00000303540.4:p.Ser1690AlafsTer25
ENST00000375405.7:c.5035_5036delinsG	ENSP00000364554.3:p.Ser1679AlafsTer25
ENST00000409050.1:c.4984_4985delinsG	ENSP00000386312.1:p.Ser1662AlafsTer25
ENST00000423058.6:c.5068_5069delinsG	ENSP00000407030.2:p.Ser1690AlafsTer25
NM_001165963.1:c.5068_5069delinsG	NP_001159435.1:p.Ser1690AlafsTer25
NM_001165964.1:c.4984_4985delinsG	NP_001159436.1:p.Ser1662AlafsTer25
NM_001202435.1:c.5068_5069delinsG	NP_001189364.1:p.Ser1690AlafsTer25
NM_006920.4:c.5035_5036delinsG , LRG_8t1:c.5035_5036delinsG	NP_008851.3:p.Ser1679AlafsTer25
NR_110598.1:n.176-23407_176-23406delinsC
XM_011511598.1:c.5068_5069delinsG	XP_011509900.1:p.Ser1690AlafsTer25
XM_011511599.1:c.5068_5069delinsG	XP_011509901.1:p.Ser1690AlafsTer25
XM_011511600.1:c.5068_5069delinsG	XP_011509902.1:p.Ser1690AlafsTer25
XM_011511601.1:c.5068_5069delinsG	XP_011509903.1:p.Ser1690AlafsTer25
XM_011511602.1:c.5068_5069delinsG	XP_011509904.1:p.Ser1690AlafsTer25
XM_011511603.1:c.5065_5066delinsG	XP_011509905.1:p.Ser1689AlafsTer25
XM_011511604.1:c.5035_5036delinsG	XP_011509906.1:p.Ser1679AlafsTer25
XM_011511605.1:c.5032_5033delinsG	XP_011509907.1:p.Ser1678AlafsTer25
XM_011511606.1:c.4984_4985delinsG	XP_011509908.1:p.Ser1662AlafsTer25
XM_011511607.1:c.4786_4787delinsG	XP_011509909.1:p.Ser1596AlafsTer25
NM_001165963.2:c.5068_5069delinsG	NP_001159435.1:p.Ser1690AlafsTer25
NM_001165964.2:c.4984_4985delinsG	NP_001159436.1:p.Ser1662AlafsTer25
NM_001202435.2:c.5068_5069delinsG	NP_001189364.1:p.Ser1690AlafsTer25
NM_001353948.1:c.5068_5069delinsG	NP_001340877.1:p.Ser1690AlafsTer25
NM_001353949.1:c.5035_5036delinsG	NP_001340878.1:p.Ser1679AlafsTer25
NM_001353950.1:c.5035_5036delinsG	NP_001340879.1:p.Ser1679AlafsTer25
NM_001353951.1:c.5035_5036delinsG	NP_001340880.1:p.Ser1679AlafsTer25
NM_001353952.1:c.5035_5036delinsG	NP_001340881.1:p.Ser1679AlafsTer25
NM_001353954.1:c.5032_5033delinsG	NP_001340883.1:p.Ser1678AlafsTer25
NM_001353955.1:c.5032_5033delinsG	NP_001340884.1:p.Ser1678AlafsTer25
NM_001353957.1:c.4984_4985delinsG	NP_001340886.1:p.Ser1662AlafsTer25
NM_001353958.1:c.4984_4985delinsG	NP_001340887.1:p.Ser1662AlafsTer25
NM_001353960.1:c.4981_4982delinsG	NP_001340889.1:p.Ser1661AlafsTer25
NM_001353961.1:c.2626_2627delinsG	NP_001340890.1:p.Ser876AlafsTer25
NM_006920.5:c.5035_5036delinsG	NP_008851.3:p.Ser1679AlafsTer25
NR_148667.1:n.5504_5505delinsG
XR_001738883.1:n.5518_5519delinsG
XR_001738884.1:n.5490_5491delinsG
NM_001165963.3:c.5068_5069delinsG	NP_001159435.1:p.Ser1690AlafsTer25
NM_001165964.3:c.4984_4985delinsG	NP_001159436.1:p.Ser1662AlafsTer25
NM_001202435.3:c.5068_5069delinsG	NP_001189364.1:p.Ser1690AlafsTer25
NM_001353948.2:c.5068_5069delinsG	NP_001340877.1:p.Ser1690AlafsTer25
NM_001353949.2:c.5035_5036delinsG	NP_001340878.1:p.Ser1679AlafsTer25
NM_001353950.2:c.5035_5036delinsG	NP_001340879.1:p.Ser1679AlafsTer25
NM_001353951.2:c.5035_5036delinsG	NP_001340880.1:p.Ser1679AlafsTer25
NM_001353952.2:c.5035_5036delinsG	NP_001340881.1:p.Ser1679AlafsTer25
NM_001353954.2:c.5032_5033delinsG	NP_001340883.1:p.Ser1678AlafsTer25
NM_001353955.2:c.5032_5033delinsG	NP_001340884.1:p.Ser1678AlafsTer25
NM_001353957.2:c.4984_4985delinsG	NP_001340886.1:p.Ser1662AlafsTer25
NM_001353958.2:c.4984_4985delinsG	NP_001340887.1:p.Ser1662AlafsTer25
NM_001353960.2:c.4981_4982delinsG	NP_001340889.1:p.Ser1661AlafsTer25
NM_001353961.2:c.2626_2627delinsG	NP_001340890.1:p.Ser876AlafsTer25
NM_006920.6:c.5035_5036delinsG	NP_008851.3:p.Ser1679AlafsTer25
NR_148667.2:n.5485_5486delinsG
NM_001165963.4:c.5068_5069delinsG MANE Select	NP_001159435.1:p.Ser1690AlafsTer25