Canonical Allele Identifier: CA1304848279

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166012135_166012136delinsAC , CM000664.2:g.166012135_166012136delinsAC	GRCh38
NC_000002.11:g.166868645_166868646delinsAC , CM000664.1:g.166868645_166868646delinsAC	GRCh37
NC_000002.10:g.166576891_166576892delinsAC	NCBI36
NG_011906.1:g.66504_66505delinsGT , LRG_8:g.66504_66505delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*1888_*1889delinsGT	ENSP00000509637.1:n.*1888_*1889delinsGT
ENST00000303395.9:c.3852_3853delinsGT	ENSP00000303540.4:p.Trp1284=
ENST00000635750.1:c.3819_3820delinsGT	ENSP00000490799.1:p.Trp1273=
ENST00000635776.1:c.3819_3820delinsGT	ENSP00000490692.1:p.Trp1273=
ENST00000636194.1:c.*1345_*1346delinsGT	ENSP00000490288.1:n.*1345_*1346delinsGT
ENST00000637038.1:c.650_651delinsGT
ENST00000637968.1:n.4104_4105delinsGT
ENST00000637988.1:c.3819_3820delinsGT	ENSP00000490780.1:p.Trp1273=
ENST00000640036.1:c.3819_3820delinsGT	ENSP00000491573.1:p.Trp1273=
ENST00000641575.1:c.3816_3817delinsGT	ENSP00000492917.1:p.Trp1272=
ENST00000641603.1:c.3852_3853delinsGT	ENSP00000492945.1:p.Trp1284=
ENST00000641996.1:c.*3406_*3407delinsGT	ENSP00000493054.1:n.*3406_*3407delinsGT
ENST00000671940.1:c.*1795_*1796delinsGT	ENSP00000500336.1:n.*1795_*1796delinsGT
ENST00000673490.1:n.6325_6326delinsGT
ENST00000674923.1:c.3852_3853delinsGT MANE Select	ENSP00000501589.1:p.Trp1284=
ENST00000303395.8:c.3852_3853delinsGT	ENSP00000303540.4:p.Trp1284=
ENST00000375405.7:c.3819_3820delinsGT	ENSP00000364554.3:p.Trp1273=
ENST00000409050.1:c.3768_3769delinsGT	ENSP00000386312.1:p.Trp1256=
ENST00000423058.6:c.3852_3853delinsGT	ENSP00000407030.2:p.Trp1284=
NM_001165963.1:c.3852_3853delinsGT	NP_001159435.1:p.Trp1284=
NM_001165964.1:c.3768_3769delinsGT	NP_001159436.1:p.Trp1256=
NM_001202435.1:c.3852_3853delinsGT	NP_001189364.1:p.Trp1284=
NM_006920.4:c.3819_3820delinsGT , LRG_8t1:c.3819_3820delinsGT	NP_008851.3:p.Trp1273=
NR_110598.1:n.176-3478_176-3477delinsAC
XM_011511598.1:c.3852_3853delinsGT	XP_011509900.1:p.Trp1284=
XM_011511599.1:c.3852_3853delinsGT	XP_011509901.1:p.Trp1284=
XM_011511600.1:c.3852_3853delinsGT	XP_011509902.1:p.Trp1284=
XM_011511601.1:c.3852_3853delinsGT	XP_011509903.1:p.Trp1284=
XM_011511602.1:c.3852_3853delinsGT	XP_011509904.1:p.Trp1284=
XM_011511603.1:c.3849_3850delinsGT	XP_011509905.1:p.Trp1283=
XM_011511604.1:c.3819_3820delinsGT	XP_011509906.1:p.Trp1273=
XM_011511605.1:c.3816_3817delinsGT	XP_011509907.1:p.Trp1272=
XM_011511606.1:c.3768_3769delinsGT	XP_011509908.1:p.Trp1256=
XM_011511607.1:c.3852_3853delinsGT	XP_011509909.1:p.Trp1284=
XR_922981.1:n.4036_4037delinsGT
NM_001165963.2:c.3852_3853delinsGT	NP_001159435.1:p.Trp1284=
NM_001165964.2:c.3768_3769delinsGT	NP_001159436.1:p.Trp1256=
NM_001202435.2:c.3852_3853delinsGT	NP_001189364.1:p.Trp1284=
NM_001353948.1:c.3852_3853delinsGT	NP_001340877.1:p.Trp1284=
NM_001353949.1:c.3819_3820delinsGT	NP_001340878.1:p.Trp1273=
NM_001353950.1:c.3819_3820delinsGT	NP_001340879.1:p.Trp1273=
NM_001353951.1:c.3819_3820delinsGT	NP_001340880.1:p.Trp1273=
NM_001353952.1:c.3819_3820delinsGT	NP_001340881.1:p.Trp1273=
NM_001353954.1:c.3816_3817delinsGT	NP_001340883.1:p.Trp1272=
NM_001353955.1:c.3816_3817delinsGT	NP_001340884.1:p.Trp1272=
NM_001353957.1:c.3768_3769delinsGT	NP_001340886.1:p.Trp1256=
NM_001353958.1:c.3768_3769delinsGT	NP_001340887.1:p.Trp1256=
NM_001353960.1:c.3765_3766delinsGT	NP_001340889.1:p.Trp1255=
NM_001353961.1:c.1410_1411delinsGT	NP_001340890.1:p.Trp470=
NM_006920.5:c.3819_3820delinsGT	NP_008851.3:p.Trp1273=
NR_148667.1:n.4224_4225delinsGT
XR_001738883.1:n.4238_4239delinsGT
XR_001738884.1:n.4210_4211delinsGT
NM_001165963.3:c.3852_3853delinsGT	NP_001159435.1:p.Trp1284=
NM_001165964.3:c.3768_3769delinsGT	NP_001159436.1:p.Trp1256=
NM_001202435.3:c.3852_3853delinsGT	NP_001189364.1:p.Trp1284=
NM_001353948.2:c.3852_3853delinsGT	NP_001340877.1:p.Trp1284=
NM_001353949.2:c.3819_3820delinsGT	NP_001340878.1:p.Trp1273=
NM_001353950.2:c.3819_3820delinsGT	NP_001340879.1:p.Trp1273=
NM_001353951.2:c.3819_3820delinsGT	NP_001340880.1:p.Trp1273=
NM_001353952.2:c.3819_3820delinsGT	NP_001340881.1:p.Trp1273=
NM_001353954.2:c.3816_3817delinsGT	NP_001340883.1:p.Trp1272=
NM_001353955.2:c.3816_3817delinsGT	NP_001340884.1:p.Trp1272=
NM_001353957.2:c.3768_3769delinsGT	NP_001340886.1:p.Trp1256=
NM_001353958.2:c.3768_3769delinsGT	NP_001340887.1:p.Trp1256=
NM_001353960.2:c.3765_3766delinsGT	NP_001340889.1:p.Trp1255=
NM_001353961.2:c.1410_1411delinsGT	NP_001340890.1:p.Trp470=
NM_006920.6:c.3819_3820delinsGT	NP_008851.3:p.Trp1273=
NR_148667.2:n.4205_4206delinsGT
NM_001165963.4:c.3852_3853delinsGT MANE Select	NP_001159435.1:p.Trp1284=