Canonical Allele Identifier: CA1304842189

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166002224_166002229delinsCAAAGA , CM000664.2:g.166002224_166002229delinsCAAAGA	GRCh38
NC_000002.11:g.166858734_166858739delinsCAAAGA , CM000664.1:g.166858734_166858739delinsCAAAGA	GRCh37
NC_000002.10:g.166566980_166566985delinsCAAAGA	NCBI36
NG_011906.1:g.76411_76416delinsTCTTTG , LRG_8:g.76411_76416delinsTCTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*2320+243_*2320+248delinsTCTTTG	ENSP00000509637.1:n.*2320+243_*2320+248delinsTCTTTG
ENST00000303395.9:c.4284+243_4284+248delinsTCTTTG	ENSP00000303540.4:n.4284+243_4284+248delinsTCTTTG
ENST00000635750.1:c.4251+243_4251+248delinsTCTTTG	ENSP00000490799.1:n.4251+243_4251+248delinsTCTTTG
ENST00000635776.1:c.4251+243_4251+248delinsTCTTTG	ENSP00000490692.1:n.4251+243_4251+248delinsTCTTTG
ENST00000635893.1:c.15+243_15+248delinsTCTTTG	ENSP00000489986.1:n.15+243_15+248delinsTCTTTG
ENST00000636194.1:c.*1777+243_*1777+248delinsTCTTTG	ENSP00000490288.1:n.*1777+243_*1777+248delinsTCTTTG
ENST00000637038.1:c.1146+243_1146+248delinsTCTTTG
ENST00000637988.1:c.4251+243_4251+248delinsTCTTTG	ENSP00000490780.1:n.4251+243_4251+248delinsTCTTTG
ENST00000640036.1:c.4251+243_4251+248delinsTCTTTG	ENSP00000491573.1:n.4251+243_4251+248delinsTCTTTG
ENST00000641575.1:c.4248+243_4248+248delinsTCTTTG	ENSP00000492917.1:n.4248+243_4248+248delinsTCTTTG
ENST00000641603.1:c.4003-2453_4003-2448delinsTCTTTG	ENSP00000492945.1:n.4003-2453_4003-2448delinsTCTTTG
ENST00000641996.1:c.*3838+243_*3838+248delinsTCTTTG	ENSP00000493054.1:n.*3838+243_*3838+248delinsTCTTTG
ENST00000671940.1:c.*2227+243_*2227+248delinsTCTTTG	ENSP00000500336.1:n.*2227+243_*2227+248delinsTCTTTG
ENST00000673490.1:n.6757+243_6757+248delinsTCTTTG
ENST00000674923.1:c.4284+243_4284+248delinsTCTTTG MANE Select	ENSP00000501589.1:n.4284+243_4284+248delinsTCTTTG
ENST00000303395.8:c.4284+243_4284+248delinsTCTTTG	ENSP00000303540.4:n.4284+243_4284+248delinsTCTTTG
ENST00000375405.7:c.4251+243_4251+248delinsTCTTTG	ENSP00000364554.3:n.4251+243_4251+248delinsTCTTTG
ENST00000409050.1:c.4200+243_4200+248delinsTCTTTG	ENSP00000386312.1:n.4200+243_4200+248delinsTCTTTG
ENST00000423058.6:c.4284+243_4284+248delinsTCTTTG	ENSP00000407030.2:n.4284+243_4284+248delinsTCTTTG
ENST00000491429.1:n.437+243_437+248delinsTCTTTG
NM_001165963.1:c.4284+243_4284+248delinsTCTTTG	NP_001159435.1:n.4284+243_4284+248delinsTCTTTG
NM_001165964.1:c.4200+243_4200+248delinsTCTTTG	NP_001159436.1:n.4200+243_4200+248delinsTCTTTG
NM_001202435.1:c.4284+243_4284+248delinsTCTTTG	NP_001189364.1:n.4284+243_4284+248delinsTCTTTG
NM_006920.4:c.4251+243_4251+248delinsTCTTTG , LRG_8t1:c.4251+243_4251+248delinsTCTTTG	NP_008851.3:n.4251+243_4251+248delinsTCTTTG
NR_110598.1:n.176-13389_176-13384delinsCAAAGA
XM_011511598.1:c.4284+243_4284+248delinsTCTTTG	XP_011509900.1:n.4284+243_4284+248delinsTCTTTG
XM_011511599.1:c.4284+243_4284+248delinsTCTTTG	XP_011509901.1:n.4284+243_4284+248delinsTCTTTG
XM_011511600.1:c.4284+243_4284+248delinsTCTTTG	XP_011509902.1:n.4284+243_4284+248delinsTCTTTG
XM_011511601.1:c.4284+243_4284+248delinsTCTTTG	XP_011509903.1:n.4284+243_4284+248delinsTCTTTG
XM_011511602.1:c.4284+243_4284+248delinsTCTTTG	XP_011509904.1:n.4284+243_4284+248delinsTCTTTG
XM_011511603.1:c.4281+243_4281+248delinsTCTTTG	XP_011509905.1:n.4281+243_4281+248delinsTCTTTG
XM_011511604.1:c.4251+243_4251+248delinsTCTTTG	XP_011509906.1:n.4251+243_4251+248delinsTCTTTG
XM_011511605.1:c.4248+243_4248+248delinsTCTTTG	XP_011509907.1:n.4248+243_4248+248delinsTCTTTG
XM_011511606.1:c.4200+243_4200+248delinsTCTTTG	XP_011509908.1:n.4200+243_4200+248delinsTCTTTG
XM_011511607.1:c.4003-2453_4003-2448delinsTCTTTG	XP_011509909.1:n.4003-2453_4003-2448delinsTCTTTG
XR_922981.1:n.4532+243_4532+248delinsTCTTTG
NM_001165963.2:c.4284+243_4284+248delinsTCTTTG	NP_001159435.1:n.4284+243_4284+248delinsTCTTTG
NM_001165964.2:c.4200+243_4200+248delinsTCTTTG	NP_001159436.1:n.4200+243_4200+248delinsTCTTTG
NM_001202435.2:c.4284+243_4284+248delinsTCTTTG	NP_001189364.1:n.4284+243_4284+248delinsTCTTTG
NM_001353948.1:c.4284+243_4284+248delinsTCTTTG	NP_001340877.1:n.4284+243_4284+248delinsTCTTTG
NM_001353949.1:c.4251+243_4251+248delinsTCTTTG	NP_001340878.1:n.4251+243_4251+248delinsTCTTTG
NM_001353950.1:c.4251+243_4251+248delinsTCTTTG	NP_001340879.1:n.4251+243_4251+248delinsTCTTTG
NM_001353951.1:c.4251+243_4251+248delinsTCTTTG	NP_001340880.1:n.4251+243_4251+248delinsTCTTTG
NM_001353952.1:c.4251+243_4251+248delinsTCTTTG	NP_001340881.1:n.4251+243_4251+248delinsTCTTTG
NM_001353954.1:c.4248+243_4248+248delinsTCTTTG	NP_001340883.1:n.4248+243_4248+248delinsTCTTTG
NM_001353955.1:c.4248+243_4248+248delinsTCTTTG	NP_001340884.1:n.4248+243_4248+248delinsTCTTTG
NM_001353957.1:c.4200+243_4200+248delinsTCTTTG	NP_001340886.1:n.4200+243_4200+248delinsTCTTTG
NM_001353958.1:c.4200+243_4200+248delinsTCTTTG	NP_001340887.1:n.4200+243_4200+248delinsTCTTTG
NM_001353960.1:c.4197+243_4197+248delinsTCTTTG	NP_001340889.1:n.4197+243_4197+248delinsTCTTTG
NM_001353961.1:c.1842+243_1842+248delinsTCTTTG	NP_001340890.1:n.1842+243_1842+248delinsTCTTTG
NM_006920.5:c.4251+243_4251+248delinsTCTTTG	NP_008851.3:n.4251+243_4251+248delinsTCTTTG
NR_148667.1:n.4720+243_4720+248delinsTCTTTG
XR_001738883.1:n.4734+243_4734+248delinsTCTTTG
XR_001738884.1:n.4706+243_4706+248delinsTCTTTG
NM_001165963.3:c.4284+243_4284+248delinsTCTTTG	NP_001159435.1:n.4284+243_4284+248delinsTCTTTG
NM_001165964.3:c.4200+243_4200+248delinsTCTTTG	NP_001159436.1:n.4200+243_4200+248delinsTCTTTG
NM_001202435.3:c.4284+243_4284+248delinsTCTTTG	NP_001189364.1:n.4284+243_4284+248delinsTCTTTG
NM_001353948.2:c.4284+243_4284+248delinsTCTTTG	NP_001340877.1:n.4284+243_4284+248delinsTCTTTG
NM_001353949.2:c.4251+243_4251+248delinsTCTTTG	NP_001340878.1:n.4251+243_4251+248delinsTCTTTG
NM_001353950.2:c.4251+243_4251+248delinsTCTTTG	NP_001340879.1:n.4251+243_4251+248delinsTCTTTG
NM_001353951.2:c.4251+243_4251+248delinsTCTTTG	NP_001340880.1:n.4251+243_4251+248delinsTCTTTG
NM_001353952.2:c.4251+243_4251+248delinsTCTTTG	NP_001340881.1:n.4251+243_4251+248delinsTCTTTG
NM_001353954.2:c.4248+243_4248+248delinsTCTTTG	NP_001340883.1:n.4248+243_4248+248delinsTCTTTG
NM_001353955.2:c.4248+243_4248+248delinsTCTTTG	NP_001340884.1:n.4248+243_4248+248delinsTCTTTG
NM_001353957.2:c.4200+243_4200+248delinsTCTTTG	NP_001340886.1:n.4200+243_4200+248delinsTCTTTG
NM_001353958.2:c.4200+243_4200+248delinsTCTTTG	NP_001340887.1:n.4200+243_4200+248delinsTCTTTG
NM_001353960.2:c.4197+243_4197+248delinsTCTTTG	NP_001340889.1:n.4197+243_4197+248delinsTCTTTG
NM_001353961.2:c.1842+243_1842+248delinsTCTTTG	NP_001340890.1:n.1842+243_1842+248delinsTCTTTG
NM_006920.6:c.4251+243_4251+248delinsTCTTTG	NP_008851.3:n.4251+243_4251+248delinsTCTTTG
NR_148667.2:n.4701+243_4701+248delinsTCTTTG
NM_001165963.4:c.4284+243_4284+248delinsTCTTTG MANE Select	NP_001159435.1:n.4284+243_4284+248delinsTCTTTG