Canonical Allele Identifier: CA1304842421

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166002483_166002487delinsAAGAG , CM000664.2:g.166002483_166002487delinsAAGAG	GRCh38
NC_000002.11:g.166858993_166858997delinsAAGAG , CM000664.1:g.166858993_166858997delinsAAGAG	GRCh37
NC_000002.10:g.166567239_166567243delinsAAGAG	NCBI36
NG_011906.1:g.76153_76157delinsCTCTT , LRG_8:g.76153_76157delinsCTCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*2305_*2309delinsCTCTT	ENSP00000509637.1:n.*2305_*2309delinsCTCT...
ENST00000303395.9:c.4269_4273delinsCTCTT	ENSP00000303540.4:p.Leu1423=
ENST00000635750.1:c.4236_4240delinsCTCTT	ENSP00000490799.1:p.Leu1412=
ENST00000635776.1:c.4236_4240delinsCTCTT	ENSP00000490692.1:p.Leu1412=
ENST00000636194.1:c.*1762_*1766delinsCTCTT	ENSP00000490288.1:n.*1762_*1766delinsCTCT...
ENST00000637038.1:c.1131_1135delinsCTCTT
ENST00000637988.1:c.4236_4240delinsCTCTT	ENSP00000490780.1:p.Leu1412=
ENST00000640036.1:c.4236_4240delinsCTCTT	ENSP00000491573.1:p.Leu1412=
ENST00000641575.1:c.4233_4237delinsCTCTT	ENSP00000492917.1:p.Leu1411=
ENST00000641603.1:c.4003-2711_4003-2707delinsCTCTT	ENSP00000492945.1:n.4003-2711_4003-2707de...
ENST00000641996.1:c.*3823_*3827delinsCTCTT	ENSP00000493054.1:n.*3823_*3827delinsCTCT...
ENST00000671940.1:c.*2212_*2216delinsCTCTT	ENSP00000500336.1:n.*2212_*2216delinsCTCT...
ENST00000673490.1:n.6742_6746delinsCTCTT
ENST00000674923.1:c.4269_4273delinsCTCTT MANE Select	ENSP00000501589.1:p.Leu1423=
ENST00000303395.8:c.4269_4273delinsCTCTT	ENSP00000303540.4:p.Leu1423=
ENST00000375405.7:c.4236_4240delinsCTCTT	ENSP00000364554.3:p.Leu1412=
ENST00000409050.1:c.4185_4189delinsCTCTT	ENSP00000386312.1:p.Leu1395=
ENST00000423058.6:c.4269_4273delinsCTCTT	ENSP00000407030.2:p.Leu1423=
ENST00000491429.1:n.422_426delinsCTCTT
NM_001165963.1:c.4269_4273delinsCTCTT	NP_001159435.1:p.Leu1423=
NM_001165964.1:c.4185_4189delinsCTCTT	NP_001159436.1:p.Leu1395=
NM_001202435.1:c.4269_4273delinsCTCTT	NP_001189364.1:p.Leu1423=
NM_006920.4:c.4236_4240delinsCTCTT , LRG_8t1:c.4236_4240delinsCTCTT	NP_008851.3:p.Leu1412=
NR_110598.1:n.176-13130_176-13126delinsAAGAG
XM_011511598.1:c.4269_4273delinsCTCTT	XP_011509900.1:p.Leu1423=
XM_011511599.1:c.4269_4273delinsCTCTT	XP_011509901.1:p.Leu1423=
XM_011511600.1:c.4269_4273delinsCTCTT	XP_011509902.1:p.Leu1423=
XM_011511601.1:c.4269_4273delinsCTCTT	XP_011509903.1:p.Leu1423=
XM_011511602.1:c.4269_4273delinsCTCTT	XP_011509904.1:p.Leu1423=
XM_011511603.1:c.4266_4270delinsCTCTT	XP_011509905.1:p.Leu1422=
XM_011511604.1:c.4236_4240delinsCTCTT	XP_011509906.1:p.Leu1412=
XM_011511605.1:c.4233_4237delinsCTCTT	XP_011509907.1:p.Leu1411=
XM_011511606.1:c.4185_4189delinsCTCTT	XP_011509908.1:p.Leu1395=
XM_011511607.1:c.4003-2711_4003-2707delinsCTCTT	XP_011509909.1:n.4003-2711_4003-2707delin...
XR_922981.1:n.4517_4521delinsCTCTT
NM_001165963.2:c.4269_4273delinsCTCTT	NP_001159435.1:p.Leu1423=
NM_001165964.2:c.4185_4189delinsCTCTT	NP_001159436.1:p.Leu1395=
NM_001202435.2:c.4269_4273delinsCTCTT	NP_001189364.1:p.Leu1423=
NM_001353948.1:c.4269_4273delinsCTCTT	NP_001340877.1:p.Leu1423=
NM_001353949.1:c.4236_4240delinsCTCTT	NP_001340878.1:p.Leu1412=
NM_001353950.1:c.4236_4240delinsCTCTT	NP_001340879.1:p.Leu1412=
NM_001353951.1:c.4236_4240delinsCTCTT	NP_001340880.1:p.Leu1412=
NM_001353952.1:c.4236_4240delinsCTCTT	NP_001340881.1:p.Leu1412=
NM_001353954.1:c.4233_4237delinsCTCTT	NP_001340883.1:p.Leu1411=
NM_001353955.1:c.4233_4237delinsCTCTT	NP_001340884.1:p.Leu1411=
NM_001353957.1:c.4185_4189delinsCTCTT	NP_001340886.1:p.Leu1395=
NM_001353958.1:c.4185_4189delinsCTCTT	NP_001340887.1:p.Leu1395=
NM_001353960.1:c.4182_4186delinsCTCTT	NP_001340889.1:p.Leu1394=
NM_001353961.1:c.1827_1831delinsCTCTT	NP_001340890.1:p.Leu609=
NM_006920.5:c.4236_4240delinsCTCTT	NP_008851.3:p.Leu1412=
NR_148667.1:n.4705_4709delinsCTCTT
XR_001738883.1:n.4719_4723delinsCTCTT
XR_001738884.1:n.4691_4695delinsCTCTT
NM_001165963.3:c.4269_4273delinsCTCTT	NP_001159435.1:p.Leu1423=
NM_001165964.3:c.4185_4189delinsCTCTT	NP_001159436.1:p.Leu1395=
NM_001202435.3:c.4269_4273delinsCTCTT	NP_001189364.1:p.Leu1423=
NM_001353948.2:c.4269_4273delinsCTCTT	NP_001340877.1:p.Leu1423=
NM_001353949.2:c.4236_4240delinsCTCTT	NP_001340878.1:p.Leu1412=
NM_001353950.2:c.4236_4240delinsCTCTT	NP_001340879.1:p.Leu1412=
NM_001353951.2:c.4236_4240delinsCTCTT	NP_001340880.1:p.Leu1412=
NM_001353952.2:c.4236_4240delinsCTCTT	NP_001340881.1:p.Leu1412=
NM_001353954.2:c.4233_4237delinsCTCTT	NP_001340883.1:p.Leu1411=
NM_001353955.2:c.4233_4237delinsCTCTT	NP_001340884.1:p.Leu1411=
NM_001353957.2:c.4185_4189delinsCTCTT	NP_001340886.1:p.Leu1395=
NM_001353958.2:c.4185_4189delinsCTCTT	NP_001340887.1:p.Leu1395=
NM_001353960.2:c.4182_4186delinsCTCTT	NP_001340889.1:p.Leu1394=
NM_001353961.2:c.1827_1831delinsCTCTT	NP_001340890.1:p.Leu609=
NM_006920.6:c.4236_4240delinsCTCTT	NP_008851.3:p.Leu1412=
NR_148667.2:n.4686_4690delinsCTCTT
NM_001165963.4:c.4269_4273delinsCTCTT MANE Select	NP_001159435.1:p.Leu1423=