Canonical Allele Identifier: CA1304857405

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166037829_166037839delinsGACCAGCAACC , CM000664.2:g.166037829_166037839delinsGACCAGCAACC	GRCh38
NC_000002.11:g.166894339_166894349delinsGACCAGCAACC , CM000664.1:g.166894339_166894349delinsGACCAGCAACC	GRCh37
NC_000002.10:g.166602585_166602595delinsGACCAGCAACC	NCBI36
NG_011906.1:g.40801_40811delinsGGTTGCTGGTC , LRG_8:g.40801_40811delinsGGTTGCTGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*919_*929delinsGGTTGCTGGTC	ENSP00000509637.1:n.*919_*929delinsGGTTGCTGGTC
ENST00000303395.9:c.2883_2893delinsGGTTGCTGGTC	ENSP00000303540.4:p.Glu961=
ENST00000635750.1:c.2850_2860delinsGGTTGCTGGTC	ENSP00000490799.1:p.Glu950=
ENST00000635776.1:c.2850_2860delinsGGTTGCTGGTC	ENSP00000490692.1:p.Glu950=
ENST00000636194.1:c.*376_*386delinsGGTTGCTGGTC	ENSP00000490288.1:n.*376_*386delinsGGTTGCTGGTC
ENST00000636759.1:c.*2673_*2683delinsGGTTGCTGGTC	ENSP00000490895.1:n.*2673_*2683delinsGGTTGCTGGTC
ENST00000637968.1:n.3135_3145delinsGGTTGCTGGTC
ENST00000637988.1:c.2850_2860delinsGGTTGCTGGTC	ENSP00000490780.1:p.Glu950=
ENST00000640036.1:c.2850_2860delinsGGTTGCTGGTC	ENSP00000491573.1:p.Glu950=
ENST00000641575.1:c.2847_2857delinsGGTTGCTGGTC	ENSP00000492917.1:p.Glu949=
ENST00000641603.1:c.2883_2893delinsGGTTGCTGGTC	ENSP00000492945.1:p.Glu961=
ENST00000641996.1:c.*2437_*2447delinsGGTTGCTGGTC	ENSP00000493054.1:n.*2437_*2447delinsGGTTGCTGGTC
ENST00000671940.1:c.*826_*836delinsGGTTGCTGGTC	ENSP00000500336.1:n.*826_*836delinsGGTTGCTGGTC
ENST00000673490.1:n.5356_5366delinsGGTTGCTGGTC
ENST00000674923.1:c.2883_2893delinsGGTTGCTGGTC MANE Select	ENSP00000501589.1:p.Glu961=
ENST00000303395.8:c.2883_2893delinsGGTTGCTGGTC	ENSP00000303540.4:p.Glu961=
ENST00000375405.7:c.2850_2860delinsGGTTGCTGGTC	ENSP00000364554.3:p.Glu950=
ENST00000409050.1:c.2799_2809delinsGGTTGCTGGTC	ENSP00000386312.1:p.Glu933=
ENST00000423058.6:c.2883_2893delinsGGTTGCTGGTC	ENSP00000407030.2:p.Glu961=
NM_001165963.1:c.2883_2893delinsGGTTGCTGGTC	NP_001159435.1:p.Glu961=
NM_001165964.1:c.2799_2809delinsGGTTGCTGGTC	NP_001159436.1:p.Glu933=
NM_001202435.1:c.2883_2893delinsGGTTGCTGGTC	NP_001189364.1:p.Glu961=
NM_006920.4:c.2850_2860delinsGGTTGCTGGTC , LRG_8t1:c.2850_2860delinsGGTTGCTGGTC	NP_008851.3:p.Glu950=
XM_011511598.1:c.2883_2893delinsGGTTGCTGGTC	XP_011509900.1:p.Glu961=
XM_011511599.1:c.2883_2893delinsGGTTGCTGGTC	XP_011509901.1:p.Glu961=
XM_011511600.1:c.2883_2893delinsGGTTGCTGGTC	XP_011509902.1:p.Glu961=
XM_011511601.1:c.2883_2893delinsGGTTGCTGGTC	XP_011509903.1:p.Glu961=
XM_011511602.1:c.2883_2893delinsGGTTGCTGGTC	XP_011509904.1:p.Glu961=
XM_011511603.1:c.2880_2890delinsGGTTGCTGGTC	XP_011509905.1:p.Glu960=
XM_011511604.1:c.2850_2860delinsGGTTGCTGGTC	XP_011509906.1:p.Glu950=
XM_011511605.1:c.2847_2857delinsGGTTGCTGGTC	XP_011509907.1:p.Glu949=
XM_011511606.1:c.2799_2809delinsGGTTGCTGGTC	XP_011509908.1:p.Glu933=
XM_011511607.1:c.2883_2893delinsGGTTGCTGGTC	XP_011509909.1:p.Glu961=
XR_922981.1:n.3067_3077delinsGGTTGCTGGTC
NM_001165963.2:c.2883_2893delinsGGTTGCTGGTC	NP_001159435.1:p.Glu961=
NM_001165964.2:c.2799_2809delinsGGTTGCTGGTC	NP_001159436.1:p.Glu933=
NM_001202435.2:c.2883_2893delinsGGTTGCTGGTC	NP_001189364.1:p.Glu961=
NM_001353948.1:c.2883_2893delinsGGTTGCTGGTC	NP_001340877.1:p.Glu961=
NM_001353949.1:c.2850_2860delinsGGTTGCTGGTC	NP_001340878.1:p.Glu950=
NM_001353950.1:c.2850_2860delinsGGTTGCTGGTC	NP_001340879.1:p.Glu950=
NM_001353951.1:c.2850_2860delinsGGTTGCTGGTC	NP_001340880.1:p.Glu950=
NM_001353952.1:c.2850_2860delinsGGTTGCTGGTC	NP_001340881.1:p.Glu950=
NM_001353954.1:c.2847_2857delinsGGTTGCTGGTC	NP_001340883.1:p.Glu949=
NM_001353955.1:c.2847_2857delinsGGTTGCTGGTC	NP_001340884.1:p.Glu949=
NM_001353957.1:c.2799_2809delinsGGTTGCTGGTC	NP_001340886.1:p.Glu933=
NM_001353958.1:c.2799_2809delinsGGTTGCTGGTC	NP_001340887.1:p.Glu933=
NM_001353960.1:c.2796_2806delinsGGTTGCTGGTC	NP_001340889.1:p.Glu932=
NM_001353961.1:c.441_451delinsGGTTGCTGGTC	NP_001340890.1:p.Glu147=
NM_006920.5:c.2850_2860delinsGGTTGCTGGTC	NP_008851.3:p.Glu950=
NR_148667.1:n.3255_3265delinsGGTTGCTGGTC
XR_001738883.1:n.3269_3279delinsGGTTGCTGGTC
XR_001738884.1:n.3241_3251delinsGGTTGCTGGTC
NM_001165963.3:c.2883_2893delinsGGTTGCTGGTC	NP_001159435.1:p.Glu961=
NM_001165964.3:c.2799_2809delinsGGTTGCTGGTC	NP_001159436.1:p.Glu933=
NM_001202435.3:c.2883_2893delinsGGTTGCTGGTC	NP_001189364.1:p.Glu961=
NM_001353948.2:c.2883_2893delinsGGTTGCTGGTC	NP_001340877.1:p.Glu961=
NM_001353949.2:c.2850_2860delinsGGTTGCTGGTC	NP_001340878.1:p.Glu950=
NM_001353950.2:c.2850_2860delinsGGTTGCTGGTC	NP_001340879.1:p.Glu950=
NM_001353951.2:c.2850_2860delinsGGTTGCTGGTC	NP_001340880.1:p.Glu950=
NM_001353952.2:c.2850_2860delinsGGTTGCTGGTC	NP_001340881.1:p.Glu950=
NM_001353954.2:c.2847_2857delinsGGTTGCTGGTC	NP_001340883.1:p.Glu949=
NM_001353955.2:c.2847_2857delinsGGTTGCTGGTC	NP_001340884.1:p.Glu949=
NM_001353957.2:c.2799_2809delinsGGTTGCTGGTC	NP_001340886.1:p.Glu933=
NM_001353958.2:c.2799_2809delinsGGTTGCTGGTC	NP_001340887.1:p.Glu933=
NM_001353960.2:c.2796_2806delinsGGTTGCTGGTC	NP_001340889.1:p.Glu932=
NM_001353961.2:c.441_451delinsGGTTGCTGGTC	NP_001340890.1:p.Glu147=
NM_006920.6:c.2850_2860delinsGGTTGCTGGTC	NP_008851.3:p.Glu950=
NR_148667.2:n.3236_3246delinsGGTTGCTGGTC
NM_001165963.4:c.2883_2893delinsGGTTGCTGGTC MANE Select	NP_001159435.1:p.Glu961=