Canonical Allele Identifier: CA2586965066

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166009748_166009749insA , CM000664.2:g.166009748_166009749insA	GRCh38
NC_000002.11:g.166866258_166866259insA , CM000664.1:g.166866258_166866259insA	GRCh37
NC_000002.10:g.166574504_166574505insA	NCBI36
NG_011906.1:g.68891_68892insT , LRG_8:g.68891_68892insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*2008_*2009insT	ENSP00000509637.1:n.*2008_*2009insT
ENST00000303395.9:c.3972_3973insT	ENSP00000303540.4:p.Arg1325Ter
ENST00000635750.1:c.3939_3940insT	ENSP00000490799.1:p.Arg1314Ter
ENST00000635776.1:c.3939_3940insT	ENSP00000490692.1:p.Arg1314Ter
ENST00000636194.1:c.*1465_*1466insT	ENSP00000490288.1:n.*1465_*1466insT
ENST00000637038.1:c.770_771insT
ENST00000637968.1:n.4224_4225insT
ENST00000637988.1:c.3939_3940insT	ENSP00000490780.1:p.Arg1314Ter
ENST00000640036.1:c.3939_3940insT	ENSP00000491573.1:p.Arg1314Ter
ENST00000641575.1:c.3936_3937insT	ENSP00000492917.1:p.Arg1313Ter
ENST00000641603.1:c.3972_3973insT	ENSP00000492945.1:p.Arg1325Ter
ENST00000641996.1:c.*3526_*3527insT	ENSP00000493054.1:n.*3526_*3527insT
ENST00000671940.1:c.*1915_*1916insT	ENSP00000500336.1:n.*1915_*1916insT
ENST00000673490.1:n.6445_6446insT
ENST00000674923.1:c.3972_3973insT MANE Select	ENSP00000501589.1:p.Arg1325Ter
ENST00000303395.8:c.3972_3973insT	ENSP00000303540.4:p.Arg1325Ter
ENST00000375405.7:c.3939_3940insT	ENSP00000364554.3:p.Arg1314Ter
ENST00000409050.1:c.3888_3889insT	ENSP00000386312.1:p.Arg1297Ter
ENST00000423058.6:c.3972_3973insT	ENSP00000407030.2:p.Arg1325Ter
NM_001165963.1:c.3972_3973insT	NP_001159435.1:p.Arg1325Ter
NM_001165964.1:c.3888_3889insT	NP_001159436.1:p.Arg1297Ter
NM_001202435.1:c.3972_3973insT	NP_001189364.1:p.Arg1325Ter
NM_006920.4:c.3939_3940insT , LRG_8t1:c.3939_3940insT	NP_008851.3:p.Arg1314Ter
NR_110598.1:n.176-5865_176-5864insA
XM_011511598.1:c.3972_3973insT	XP_011509900.1:p.Arg1325Ter
XM_011511599.1:c.3972_3973insT	XP_011509901.1:p.Arg1325Ter
XM_011511600.1:c.3972_3973insT	XP_011509902.1:p.Arg1325Ter
XM_011511601.1:c.3972_3973insT	XP_011509903.1:p.Arg1325Ter
XM_011511602.1:c.3972_3973insT	XP_011509904.1:p.Arg1325Ter
XM_011511603.1:c.3969_3970insT	XP_011509905.1:p.Arg1324Ter
XM_011511604.1:c.3939_3940insT	XP_011509906.1:p.Arg1314Ter
XM_011511605.1:c.3936_3937insT	XP_011509907.1:p.Arg1313Ter
XM_011511606.1:c.3888_3889insT	XP_011509908.1:p.Arg1297Ter
XM_011511607.1:c.3972_3973insT	XP_011509909.1:p.Arg1325Ter
XR_922981.1:n.4156_4157insT
NM_001165963.2:c.3972_3973insT	NP_001159435.1:p.Arg1325Ter
NM_001165964.2:c.3888_3889insT	NP_001159436.1:p.Arg1297Ter
NM_001202435.2:c.3972_3973insT	NP_001189364.1:p.Arg1325Ter
NM_001353948.1:c.3972_3973insT	NP_001340877.1:p.Arg1325Ter
NM_001353949.1:c.3939_3940insT	NP_001340878.1:p.Arg1314Ter
NM_001353950.1:c.3939_3940insT	NP_001340879.1:p.Arg1314Ter
NM_001353951.1:c.3939_3940insT	NP_001340880.1:p.Arg1314Ter
NM_001353952.1:c.3939_3940insT	NP_001340881.1:p.Arg1314Ter
NM_001353954.1:c.3936_3937insT	NP_001340883.1:p.Arg1313Ter
NM_001353955.1:c.3936_3937insT	NP_001340884.1:p.Arg1313Ter
NM_001353957.1:c.3888_3889insT	NP_001340886.1:p.Arg1297Ter
NM_001353958.1:c.3888_3889insT	NP_001340887.1:p.Arg1297Ter
NM_001353960.1:c.3885_3886insT	NP_001340889.1:p.Arg1296Ter
NM_001353961.1:c.1530_1531insT	NP_001340890.1:p.Arg511Ter
NM_006920.5:c.3939_3940insT	NP_008851.3:p.Arg1314Ter
NR_148667.1:n.4344_4345insT
XR_001738883.1:n.4358_4359insT
XR_001738884.1:n.4330_4331insT
NM_001165963.3:c.3972_3973insT	NP_001159435.1:p.Arg1325Ter
NM_001165964.3:c.3888_3889insT	NP_001159436.1:p.Arg1297Ter
NM_001202435.3:c.3972_3973insT	NP_001189364.1:p.Arg1325Ter
NM_001353948.2:c.3972_3973insT	NP_001340877.1:p.Arg1325Ter
NM_001353949.2:c.3939_3940insT	NP_001340878.1:p.Arg1314Ter
NM_001353950.2:c.3939_3940insT	NP_001340879.1:p.Arg1314Ter
NM_001353951.2:c.3939_3940insT	NP_001340880.1:p.Arg1314Ter
NM_001353952.2:c.3939_3940insT	NP_001340881.1:p.Arg1314Ter
NM_001353954.2:c.3936_3937insT	NP_001340883.1:p.Arg1313Ter
NM_001353955.2:c.3936_3937insT	NP_001340884.1:p.Arg1313Ter
NM_001353957.2:c.3888_3889insT	NP_001340886.1:p.Arg1297Ter
NM_001353958.2:c.3888_3889insT	NP_001340887.1:p.Arg1297Ter
NM_001353960.2:c.3885_3886insT	NP_001340889.1:p.Arg1296Ter
NM_001353961.2:c.1530_1531insT	NP_001340890.1:p.Arg511Ter
NM_006920.6:c.3939_3940insT	NP_008851.3:p.Arg1314Ter
NR_148667.2:n.4325_4326insT
NM_001165963.4:c.3972_3973insT MANE Select	NP_001159435.1:p.Arg1325Ter