Canonical Allele Identifier: CA1304842272

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166002380_166002381delinsCT , CM000664.2:g.166002380_166002381delinsCT	GRCh38
NC_000002.11:g.166858890_166858891delinsCT , CM000664.1:g.166858890_166858891delinsCT	GRCh37
NC_000002.10:g.166567136_166567137delinsCT	NCBI36
NG_011906.1:g.76259_76260delinsAG , LRG_8:g.76259_76260delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*2320+91_*2320+92delinsAG	ENSP00000509637.1:n.*2320+91_*2320+92delinsAG
ENST00000303395.9:c.4284+91_4284+92delinsAG	ENSP00000303540.4:n.4284+91_4284+92delinsAG
ENST00000635750.1:c.4251+91_4251+92delinsAG	ENSP00000490799.1:n.4251+91_4251+92delinsAG
ENST00000635776.1:c.4251+91_4251+92delinsAG	ENSP00000490692.1:n.4251+91_4251+92delinsAG
ENST00000635893.1:c.15+91_15+92delinsAG	ENSP00000489986.1:n.15+91_15+92delinsAG
ENST00000636194.1:c.*1777+91_*1777+92delinsAG	ENSP00000490288.1:n.*1777+91_*1777+92delinsAG
ENST00000637038.1:c.1146+91_1146+92delinsAG
ENST00000637988.1:c.4251+91_4251+92delinsAG	ENSP00000490780.1:n.4251+91_4251+92delinsAG
ENST00000640036.1:c.4251+91_4251+92delinsAG	ENSP00000491573.1:n.4251+91_4251+92delinsAG
ENST00000641575.1:c.4248+91_4248+92delinsAG	ENSP00000492917.1:n.4248+91_4248+92delinsAG
ENST00000641603.1:c.4003-2605_4003-2604delinsAG	ENSP00000492945.1:n.4003-2605_4003-2604delinsAG
ENST00000641996.1:c.*3838+91_*3838+92delinsAG	ENSP00000493054.1:n.*3838+91_*3838+92delinsAG
ENST00000671940.1:c.*2227+91_*2227+92delinsAG	ENSP00000500336.1:n.*2227+91_*2227+92delinsAG
ENST00000673490.1:n.6757+91_6757+92delinsAG
ENST00000674923.1:c.4284+91_4284+92delinsAG MANE Select	ENSP00000501589.1:n.4284+91_4284+92delinsAG
ENST00000303395.8:c.4284+91_4284+92delinsAG	ENSP00000303540.4:n.4284+91_4284+92delinsAG
ENST00000375405.7:c.4251+91_4251+92delinsAG	ENSP00000364554.3:n.4251+91_4251+92delinsAG
ENST00000409050.1:c.4200+91_4200+92delinsAG	ENSP00000386312.1:n.4200+91_4200+92delinsAG
ENST00000423058.6:c.4284+91_4284+92delinsAG	ENSP00000407030.2:n.4284+91_4284+92delinsAG
ENST00000491429.1:n.437+91_437+92delinsAG
NM_001165963.1:c.4284+91_4284+92delinsAG	NP_001159435.1:n.4284+91_4284+92delinsAG
NM_001165964.1:c.4200+91_4200+92delinsAG	NP_001159436.1:n.4200+91_4200+92delinsAG
NM_001202435.1:c.4284+91_4284+92delinsAG	NP_001189364.1:n.4284+91_4284+92delinsAG
NM_006920.4:c.4251+91_4251+92delinsAG , LRG_8t1:c.4251+91_4251+92delinsAG	NP_008851.3:n.4251+91_4251+92delinsAG
NR_110598.1:n.176-13233_176-13232delinsCT
XM_011511598.1:c.4284+91_4284+92delinsAG	XP_011509900.1:n.4284+91_4284+92delinsAG
XM_011511599.1:c.4284+91_4284+92delinsAG	XP_011509901.1:n.4284+91_4284+92delinsAG
XM_011511600.1:c.4284+91_4284+92delinsAG	XP_011509902.1:n.4284+91_4284+92delinsAG
XM_011511601.1:c.4284+91_4284+92delinsAG	XP_011509903.1:n.4284+91_4284+92delinsAG
XM_011511602.1:c.4284+91_4284+92delinsAG	XP_011509904.1:n.4284+91_4284+92delinsAG
XM_011511603.1:c.4281+91_4281+92delinsAG	XP_011509905.1:n.4281+91_4281+92delinsAG
XM_011511604.1:c.4251+91_4251+92delinsAG	XP_011509906.1:n.4251+91_4251+92delinsAG
XM_011511605.1:c.4248+91_4248+92delinsAG	XP_011509907.1:n.4248+91_4248+92delinsAG
XM_011511606.1:c.4200+91_4200+92delinsAG	XP_011509908.1:n.4200+91_4200+92delinsAG
XM_011511607.1:c.4003-2605_4003-2604delinsAG	XP_011509909.1:n.4003-2605_4003-2604delinsAG
XR_922981.1:n.4532+91_4532+92delinsAG
NM_001165963.2:c.4284+91_4284+92delinsAG	NP_001159435.1:n.4284+91_4284+92delinsAG
NM_001165964.2:c.4200+91_4200+92delinsAG	NP_001159436.1:n.4200+91_4200+92delinsAG
NM_001202435.2:c.4284+91_4284+92delinsAG	NP_001189364.1:n.4284+91_4284+92delinsAG
NM_001353948.1:c.4284+91_4284+92delinsAG	NP_001340877.1:n.4284+91_4284+92delinsAG
NM_001353949.1:c.4251+91_4251+92delinsAG	NP_001340878.1:n.4251+91_4251+92delinsAG
NM_001353950.1:c.4251+91_4251+92delinsAG	NP_001340879.1:n.4251+91_4251+92delinsAG
NM_001353951.1:c.4251+91_4251+92delinsAG	NP_001340880.1:n.4251+91_4251+92delinsAG
NM_001353952.1:c.4251+91_4251+92delinsAG	NP_001340881.1:n.4251+91_4251+92delinsAG
NM_001353954.1:c.4248+91_4248+92delinsAG	NP_001340883.1:n.4248+91_4248+92delinsAG
NM_001353955.1:c.4248+91_4248+92delinsAG	NP_001340884.1:n.4248+91_4248+92delinsAG
NM_001353957.1:c.4200+91_4200+92delinsAG	NP_001340886.1:n.4200+91_4200+92delinsAG
NM_001353958.1:c.4200+91_4200+92delinsAG	NP_001340887.1:n.4200+91_4200+92delinsAG
NM_001353960.1:c.4197+91_4197+92delinsAG	NP_001340889.1:n.4197+91_4197+92delinsAG
NM_001353961.1:c.1842+91_1842+92delinsAG	NP_001340890.1:n.1842+91_1842+92delinsAG
NM_006920.5:c.4251+91_4251+92delinsAG	NP_008851.3:n.4251+91_4251+92delinsAG
NR_148667.1:n.4720+91_4720+92delinsAG
XR_001738883.1:n.4734+91_4734+92delinsAG
XR_001738884.1:n.4706+91_4706+92delinsAG
NM_001165963.3:c.4284+91_4284+92delinsAG	NP_001159435.1:n.4284+91_4284+92delinsAG
NM_001165964.3:c.4200+91_4200+92delinsAG	NP_001159436.1:n.4200+91_4200+92delinsAG
NM_001202435.3:c.4284+91_4284+92delinsAG	NP_001189364.1:n.4284+91_4284+92delinsAG
NM_001353948.2:c.4284+91_4284+92delinsAG	NP_001340877.1:n.4284+91_4284+92delinsAG
NM_001353949.2:c.4251+91_4251+92delinsAG	NP_001340878.1:n.4251+91_4251+92delinsAG
NM_001353950.2:c.4251+91_4251+92delinsAG	NP_001340879.1:n.4251+91_4251+92delinsAG
NM_001353951.2:c.4251+91_4251+92delinsAG	NP_001340880.1:n.4251+91_4251+92delinsAG
NM_001353952.2:c.4251+91_4251+92delinsAG	NP_001340881.1:n.4251+91_4251+92delinsAG
NM_001353954.2:c.4248+91_4248+92delinsAG	NP_001340883.1:n.4248+91_4248+92delinsAG
NM_001353955.2:c.4248+91_4248+92delinsAG	NP_001340884.1:n.4248+91_4248+92delinsAG
NM_001353957.2:c.4200+91_4200+92delinsAG	NP_001340886.1:n.4200+91_4200+92delinsAG
NM_001353958.2:c.4200+91_4200+92delinsAG	NP_001340887.1:n.4200+91_4200+92delinsAG
NM_001353960.2:c.4197+91_4197+92delinsAG	NP_001340889.1:n.4197+91_4197+92delinsAG
NM_001353961.2:c.1842+91_1842+92delinsAG	NP_001340890.1:n.1842+91_1842+92delinsAG
NM_006920.6:c.4251+91_4251+92delinsAG	NP_008851.3:n.4251+91_4251+92delinsAG
NR_148667.2:n.4701+91_4701+92delinsAG
NM_001165963.4:c.4284+91_4284+92delinsAG MANE Select	NP_001159435.1:n.4284+91_4284+92delinsAG