Canonical Allele Identifier: CA645529672

Gene: SCN1A

Linked Data

• COSMIC: COSM5702303 ; COSM5702304 ; COSM5702305

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166037838_166037839delinsAA , CM000664.2:g.166037838_166037839delinsAA	GRCh38
NC_000002.11:g.166894348_166894349delinsAA , CM000664.1:g.166894348_166894349delinsAA	GRCh37
NC_000002.10:g.166602594_166602595delinsAA	NCBI36
NG_011906.1:g.40801_40802delinsTT , LRG_8:g.40801_40802delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*919_*920delinsTT	ENSP00000509637.1:n.*919_*920delinsTT
ENST00000303395.9:c.2883_2884delinsTT	ENSP00000303540.4:p.Glu961_Val962delinsAspPhe
ENST00000635750.1:c.2850_2851delinsTT	ENSP00000490799.1:p.Glu950_Val951delinsAspPhe
ENST00000635776.1:c.2850_2851delinsTT	ENSP00000490692.1:p.Glu950_Val951delinsAspPhe
ENST00000636194.1:c.*376_*377delinsTT	ENSP00000490288.1:n.*376_*377delinsTT
ENST00000636759.1:c.*2673_*2674delinsTT	ENSP00000490895.1:n.*2673_*2674delinsTT
ENST00000637968.1:n.3135_3136delinsTT
ENST00000637988.1:c.2850_2851delinsTT	ENSP00000490780.1:p.Glu950_Val951delinsAspPhe
ENST00000640036.1:c.2850_2851delinsTT	ENSP00000491573.1:p.Glu950_Val951delinsAspPhe
ENST00000641575.1:c.2847_2848delinsTT	ENSP00000492917.1:p.Glu949_Val950delinsAspPhe
ENST00000641603.1:c.2883_2884delinsTT	ENSP00000492945.1:p.Glu961_Val962delinsAspPhe
ENST00000641996.1:c.*2437_*2438delinsTT	ENSP00000493054.1:n.*2437_*2438delinsTT
ENST00000671940.1:c.*826_*827delinsTT	ENSP00000500336.1:n.*826_*827delinsTT
ENST00000673490.1:n.5356_5357delinsTT
ENST00000674923.1:c.2883_2884delinsTT MANE Select	ENSP00000501589.1:p.Glu961_Val962delinsAspPhe
ENST00000303395.8:c.2883_2884delinsTT	ENSP00000303540.4:p.Glu961_Val962delinsAspPhe
ENST00000375405.7:c.2850_2851delinsTT	ENSP00000364554.3:p.Glu950_Val951delinsAspPhe
ENST00000409050.1:c.2799_2800delinsTT	ENSP00000386312.1:p.Glu933_Val934delinsAspPhe
ENST00000423058.6:c.2883_2884delinsTT	ENSP00000407030.2:p.Glu961_Val962delinsAspPhe
NM_001165963.1:c.2883_2884delinsTT	NP_001159435.1:p.Glu961_Val962delinsAspPhe
NM_001165964.1:c.2799_2800delinsTT	NP_001159436.1:p.Glu933_Val934delinsAspPhe
NM_001202435.1:c.2883_2884delinsTT	NP_001189364.1:p.Glu961_Val962delinsAspPhe
NM_006920.4:c.2850_2851delinsTT , LRG_8t1:c.2850_2851delinsTT	NP_008851.3:p.Glu950_Val951delinsAspPhe
XM_011511598.1:c.2883_2884delinsTT	XP_011509900.1:p.Glu961_Val962delinsAspPhe
XM_011511599.1:c.2883_2884delinsTT	XP_011509901.1:p.Glu961_Val962delinsAspPhe
XM_011511600.1:c.2883_2884delinsTT	XP_011509902.1:p.Glu961_Val962delinsAspPhe
XM_011511601.1:c.2883_2884delinsTT	XP_011509903.1:p.Glu961_Val962delinsAspPhe
XM_011511602.1:c.2883_2884delinsTT	XP_011509904.1:p.Glu961_Val962delinsAspPhe
XM_011511603.1:c.2880_2881delinsTT	XP_011509905.1:p.Glu960_Val961delinsAspPhe
XM_011511604.1:c.2850_2851delinsTT	XP_011509906.1:p.Glu950_Val951delinsAspPhe
XM_011511605.1:c.2847_2848delinsTT	XP_011509907.1:p.Glu949_Val950delinsAspPhe
XM_011511606.1:c.2799_2800delinsTT	XP_011509908.1:p.Glu933_Val934delinsAspPhe
XM_011511607.1:c.2883_2884delinsTT	XP_011509909.1:p.Glu961_Val962delinsAspPhe
XR_922981.1:n.3067_3068delinsTT
NM_001165963.2:c.2883_2884delinsTT	NP_001159435.1:p.Glu961_Val962delinsAspPhe
NM_001165964.2:c.2799_2800delinsTT	NP_001159436.1:p.Glu933_Val934delinsAspPhe
NM_001202435.2:c.2883_2884delinsTT	NP_001189364.1:p.Glu961_Val962delinsAspPhe
NM_001353948.1:c.2883_2884delinsTT	NP_001340877.1:p.Glu961_Val962delinsAspPhe
NM_001353949.1:c.2850_2851delinsTT	NP_001340878.1:p.Glu950_Val951delinsAspPhe
NM_001353950.1:c.2850_2851delinsTT	NP_001340879.1:p.Glu950_Val951delinsAspPhe
NM_001353951.1:c.2850_2851delinsTT	NP_001340880.1:p.Glu950_Val951delinsAspPhe
NM_001353952.1:c.2850_2851delinsTT	NP_001340881.1:p.Glu950_Val951delinsAspPhe
NM_001353954.1:c.2847_2848delinsTT	NP_001340883.1:p.Glu949_Val950delinsAspPhe
NM_001353955.1:c.2847_2848delinsTT	NP_001340884.1:p.Glu949_Val950delinsAspPhe
NM_001353957.1:c.2799_2800delinsTT	NP_001340886.1:p.Glu933_Val934delinsAspPhe
NM_001353958.1:c.2799_2800delinsTT	NP_001340887.1:p.Glu933_Val934delinsAspPhe
NM_001353960.1:c.2796_2797delinsTT	NP_001340889.1:p.Glu932_Val933delinsAspPhe
NM_001353961.1:c.441_442delinsTT	NP_001340890.1:p.Glu147_Val148delinsAspPhe
NM_006920.5:c.2850_2851delinsTT	NP_008851.3:p.Glu950_Val951delinsAspPhe
NR_148667.1:n.3255_3256delinsTT
XR_001738883.1:n.3269_3270delinsTT
XR_001738884.1:n.3241_3242delinsTT
NM_001165963.3:c.2883_2884delinsTT	NP_001159435.1:p.Glu961_Val962delinsAspPhe
NM_001165964.3:c.2799_2800delinsTT	NP_001159436.1:p.Glu933_Val934delinsAspPhe
NM_001202435.3:c.2883_2884delinsTT	NP_001189364.1:p.Glu961_Val962delinsAspPhe
NM_001353948.2:c.2883_2884delinsTT	NP_001340877.1:p.Glu961_Val962delinsAspPhe
NM_001353949.2:c.2850_2851delinsTT	NP_001340878.1:p.Glu950_Val951delinsAspPhe
NM_001353950.2:c.2850_2851delinsTT	NP_001340879.1:p.Glu950_Val951delinsAspPhe
NM_001353951.2:c.2850_2851delinsTT	NP_001340880.1:p.Glu950_Val951delinsAspPhe
NM_001353952.2:c.2850_2851delinsTT	NP_001340881.1:p.Glu950_Val951delinsAspPhe
NM_001353954.2:c.2847_2848delinsTT	NP_001340883.1:p.Glu949_Val950delinsAspPhe
NM_001353955.2:c.2847_2848delinsTT	NP_001340884.1:p.Glu949_Val950delinsAspPhe
NM_001353957.2:c.2799_2800delinsTT	NP_001340886.1:p.Glu933_Val934delinsAspPhe
NM_001353958.2:c.2799_2800delinsTT	NP_001340887.1:p.Glu933_Val934delinsAspPhe
NM_001353960.2:c.2796_2797delinsTT	NP_001340889.1:p.Glu932_Val933delinsAspPhe
NM_001353961.2:c.441_442delinsTT	NP_001340890.1:p.Glu147_Val148delinsAspPhe
NM_006920.6:c.2850_2851delinsTT	NP_008851.3:p.Glu950_Val951delinsAspPhe
NR_148667.2:n.3236_3237delinsTT
NM_001165963.4:c.2883_2884delinsTT MANE Select	NP_001159435.1:p.Glu961_Val962delinsAspPhe