Canonical Allele Identifier: CA1304842506

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166002519_166002520delinsCT , CM000664.2:g.166002519_166002520delinsCT	GRCh38
NC_000002.11:g.166859029_166859030delinsCT , CM000664.1:g.166859029_166859030delinsCT	GRCh37
NC_000002.10:g.166567275_166567276delinsCT	NCBI36
NG_011906.1:g.76120_76121delinsAG , LRG_8:g.76120_76121delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*2272_*2273delinsAG	ENSP00000509637.1:n.*2272_*2273delinsAG
ENST00000303395.9:c.4236_4237delinsAG	ENSP00000303540.4:p.Lys1412=
ENST00000635750.1:c.4203_4204delinsAG	ENSP00000490799.1:p.Lys1401=
ENST00000635776.1:c.4203_4204delinsAG	ENSP00000490692.1:p.Lys1401=
ENST00000636194.1:c.*1729_*1730delinsAG	ENSP00000490288.1:n.*1729_*1730delinsAG
ENST00000637038.1:c.1098_1099delinsAG
ENST00000637988.1:c.4203_4204delinsAG	ENSP00000490780.1:p.Lys1401=
ENST00000640036.1:c.4203_4204delinsAG	ENSP00000491573.1:p.Lys1401=
ENST00000641575.1:c.4200_4201delinsAG	ENSP00000492917.1:p.Lys1400=
ENST00000641603.1:c.4003-2744_4003-2743delinsAG	ENSP00000492945.1:n.4003-2744_4003-2743delinsAG
ENST00000641996.1:c.*3790_*3791delinsAG	ENSP00000493054.1:n.*3790_*3791delinsAG
ENST00000671940.1:c.*2179_*2180delinsAG	ENSP00000500336.1:n.*2179_*2180delinsAG
ENST00000673490.1:n.6709_6710delinsAG
ENST00000674923.1:c.4236_4237delinsAG MANE Select	ENSP00000501589.1:p.Lys1412=
ENST00000303395.8:c.4236_4237delinsAG	ENSP00000303540.4:p.Lys1412=
ENST00000375405.7:c.4203_4204delinsAG	ENSP00000364554.3:p.Lys1401=
ENST00000409050.1:c.4152_4153delinsAG	ENSP00000386312.1:p.Lys1384=
ENST00000423058.6:c.4236_4237delinsAG	ENSP00000407030.2:p.Lys1412=
ENST00000491429.1:n.389_390delinsAG
NM_001165963.1:c.4236_4237delinsAG	NP_001159435.1:p.Lys1412=
NM_001165964.1:c.4152_4153delinsAG	NP_001159436.1:p.Lys1384=
NM_001202435.1:c.4236_4237delinsAG	NP_001189364.1:p.Lys1412=
NM_006920.4:c.4203_4204delinsAG , LRG_8t1:c.4203_4204delinsAG	NP_008851.3:p.Lys1401=
NR_110598.1:n.176-13094_176-13093delinsCT
XM_011511598.1:c.4236_4237delinsAG	XP_011509900.1:p.Lys1412=
XM_011511599.1:c.4236_4237delinsAG	XP_011509901.1:p.Lys1412=
XM_011511600.1:c.4236_4237delinsAG	XP_011509902.1:p.Lys1412=
XM_011511601.1:c.4236_4237delinsAG	XP_011509903.1:p.Lys1412=
XM_011511602.1:c.4236_4237delinsAG	XP_011509904.1:p.Lys1412=
XM_011511603.1:c.4233_4234delinsAG	XP_011509905.1:p.Lys1411=
XM_011511604.1:c.4203_4204delinsAG	XP_011509906.1:p.Lys1401=
XM_011511605.1:c.4200_4201delinsAG	XP_011509907.1:p.Lys1400=
XM_011511606.1:c.4152_4153delinsAG	XP_011509908.1:p.Lys1384=
XM_011511607.1:c.4003-2744_4003-2743delinsAG	XP_011509909.1:n.4003-2744_4003-2743delinsAG
XR_922981.1:n.4484_4485delinsAG
NM_001165963.2:c.4236_4237delinsAG	NP_001159435.1:p.Lys1412=
NM_001165964.2:c.4152_4153delinsAG	NP_001159436.1:p.Lys1384=
NM_001202435.2:c.4236_4237delinsAG	NP_001189364.1:p.Lys1412=
NM_001353948.1:c.4236_4237delinsAG	NP_001340877.1:p.Lys1412=
NM_001353949.1:c.4203_4204delinsAG	NP_001340878.1:p.Lys1401=
NM_001353950.1:c.4203_4204delinsAG	NP_001340879.1:p.Lys1401=
NM_001353951.1:c.4203_4204delinsAG	NP_001340880.1:p.Lys1401=
NM_001353952.1:c.4203_4204delinsAG	NP_001340881.1:p.Lys1401=
NM_001353954.1:c.4200_4201delinsAG	NP_001340883.1:p.Lys1400=
NM_001353955.1:c.4200_4201delinsAG	NP_001340884.1:p.Lys1400=
NM_001353957.1:c.4152_4153delinsAG	NP_001340886.1:p.Lys1384=
NM_001353958.1:c.4152_4153delinsAG	NP_001340887.1:p.Lys1384=
NM_001353960.1:c.4149_4150delinsAG	NP_001340889.1:p.Lys1383=
NM_001353961.1:c.1794_1795delinsAG	NP_001340890.1:p.Lys598=
NM_006920.5:c.4203_4204delinsAG	NP_008851.3:p.Lys1401=
NR_148667.1:n.4672_4673delinsAG
XR_001738883.1:n.4686_4687delinsAG
XR_001738884.1:n.4658_4659delinsAG
NM_001165963.3:c.4236_4237delinsAG	NP_001159435.1:p.Lys1412=
NM_001165964.3:c.4152_4153delinsAG	NP_001159436.1:p.Lys1384=
NM_001202435.3:c.4236_4237delinsAG	NP_001189364.1:p.Lys1412=
NM_001353948.2:c.4236_4237delinsAG	NP_001340877.1:p.Lys1412=
NM_001353949.2:c.4203_4204delinsAG	NP_001340878.1:p.Lys1401=
NM_001353950.2:c.4203_4204delinsAG	NP_001340879.1:p.Lys1401=
NM_001353951.2:c.4203_4204delinsAG	NP_001340880.1:p.Lys1401=
NM_001353952.2:c.4203_4204delinsAG	NP_001340881.1:p.Lys1401=
NM_001353954.2:c.4200_4201delinsAG	NP_001340883.1:p.Lys1400=
NM_001353955.2:c.4200_4201delinsAG	NP_001340884.1:p.Lys1400=
NM_001353957.2:c.4152_4153delinsAG	NP_001340886.1:p.Lys1384=
NM_001353958.2:c.4152_4153delinsAG	NP_001340887.1:p.Lys1384=
NM_001353960.2:c.4149_4150delinsAG	NP_001340889.1:p.Lys1383=
NM_001353961.2:c.1794_1795delinsAG	NP_001340890.1:p.Lys598=
NM_006920.6:c.4203_4204delinsAG	NP_008851.3:p.Lys1401=
NR_148667.2:n.4653_4654delinsAG
NM_001165963.4:c.4236_4237delinsAG MANE Select	NP_001159435.1:p.Lys1412=