Canonical Allele Identifier: CA1304836200

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991430_165991431delinsCT , CM000664.2:g.165991430_165991431delinsCT	GRCh38
NC_000002.11:g.166847940_166847941delinsCT , CM000664.1:g.166847940_166847941delinsCT	GRCh37
NC_000002.10:g.166556186_166556187delinsCT	NCBI36
NG_011906.1:g.87209_87210delinsAG , LRG_8:g.87209_87210delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*3880_*3881delinsAG	ENSP00000509637.1:n.*3880_*3881delinsAG
ENST00000303395.9:c.5844_5845delinsAG	ENSP00000303540.4:p.Lys1948=
ENST00000635750.1:c.5811_5812delinsAG	ENSP00000490799.1:p.Lys1937=
ENST00000635776.1:c.*2677_*2678delinsAG	ENSP00000490692.1:n.*2677_*2678delinsAG
ENST00000636194.1:c.*3337_*3338delinsAG	ENSP00000490288.1:n.*3337_*3338delinsAG
ENST00000637038.1:c.2706_2707delinsAG
ENST00000637988.1:c.5811_5812delinsAG	ENSP00000490780.1:p.Lys1937=
ENST00000640036.1:c.5811_5812delinsAG	ENSP00000491573.1:p.Lys1937=
ENST00000641575.1:c.5808_5809delinsAG	ENSP00000492917.1:p.Lys1936=
ENST00000641603.1:c.5562_5563delinsAG	ENSP00000492945.1:p.Lys1854=
ENST00000641996.1:c.*5398_*5399delinsAG	ENSP00000493054.1:n.*5398_*5399delinsAG
ENST00000671940.1:c.*3787_*3788delinsAG	ENSP00000500336.1:n.*3787_*3788delinsAG
ENST00000673490.1:n.8317_8318delinsAG
ENST00000674923.1:c.5844_5845delinsAG MANE Select	ENSP00000501589.1:p.Lys1948=
ENST00000303395.8:c.5844_5845delinsAG	ENSP00000303540.4:p.Lys1948=
ENST00000375405.7:c.5811_5812delinsAG	ENSP00000364554.3:p.Lys1937=
ENST00000409050.1:c.5760_5761delinsAG	ENSP00000386312.1:p.Lys1920=
ENST00000423058.6:c.5844_5845delinsAG	ENSP00000407030.2:p.Lys1948=
NM_001165963.1:c.5844_5845delinsAG	NP_001159435.1:p.Lys1948=
NM_001165964.1:c.5760_5761delinsAG	NP_001159436.1:p.Lys1920=
NM_001202435.1:c.5844_5845delinsAG	NP_001189364.1:p.Lys1948=
NM_006920.4:c.5811_5812delinsAG , LRG_8t1:c.5811_5812delinsAG	NP_008851.3:p.Lys1937=
NR_110598.1:n.176-24183_176-24182delinsCT
XM_011511598.1:c.5844_5845delinsAG	XP_011509900.1:p.Lys1948=
XM_011511599.1:c.5844_5845delinsAG	XP_011509901.1:p.Lys1948=
XM_011511600.1:c.5844_5845delinsAG	XP_011509902.1:p.Lys1948=
XM_011511601.1:c.5844_5845delinsAG	XP_011509903.1:p.Lys1948=
XM_011511602.1:c.5844_5845delinsAG	XP_011509904.1:p.Lys1948=
XM_011511603.1:c.5841_5842delinsAG	XP_011509905.1:p.Lys1947=
XM_011511604.1:c.5811_5812delinsAG	XP_011509906.1:p.Lys1937=
XM_011511605.1:c.5808_5809delinsAG	XP_011509907.1:p.Lys1936=
XM_011511606.1:c.5760_5761delinsAG	XP_011509908.1:p.Lys1920=
XM_011511607.1:c.5562_5563delinsAG	XP_011509909.1:p.Lys1854=
NM_001165963.2:c.5844_5845delinsAG	NP_001159435.1:p.Lys1948=
NM_001165964.2:c.5760_5761delinsAG	NP_001159436.1:p.Lys1920=
NM_001202435.2:c.5844_5845delinsAG	NP_001189364.1:p.Lys1948=
NM_001353948.1:c.5844_5845delinsAG	NP_001340877.1:p.Lys1948=
NM_001353949.1:c.5811_5812delinsAG	NP_001340878.1:p.Lys1937=
NM_001353950.1:c.5811_5812delinsAG	NP_001340879.1:p.Lys1937=
NM_001353951.1:c.5811_5812delinsAG	NP_001340880.1:p.Lys1937=
NM_001353952.1:c.5811_5812delinsAG	NP_001340881.1:p.Lys1937=
NM_001353954.1:c.5808_5809delinsAG	NP_001340883.1:p.Lys1936=
NM_001353955.1:c.5808_5809delinsAG	NP_001340884.1:p.Lys1936=
NM_001353957.1:c.5760_5761delinsAG	NP_001340886.1:p.Lys1920=
NM_001353958.1:c.5760_5761delinsAG	NP_001340887.1:p.Lys1920=
NM_001353960.1:c.5757_5758delinsAG	NP_001340889.1:p.Lys1919=
NM_001353961.1:c.3402_3403delinsAG	NP_001340890.1:p.Lys1134=
NM_006920.5:c.5811_5812delinsAG	NP_008851.3:p.Lys1937=
NR_148667.1:n.6280_6281delinsAG
XR_001738883.1:n.6294_6295delinsAG
XR_001738884.1:n.6266_6267delinsAG
NM_001165963.3:c.5844_5845delinsAG	NP_001159435.1:p.Lys1948=
NM_001165964.3:c.5760_5761delinsAG	NP_001159436.1:p.Lys1920=
NM_001202435.3:c.5844_5845delinsAG	NP_001189364.1:p.Lys1948=
NM_001353948.2:c.5844_5845delinsAG	NP_001340877.1:p.Lys1948=
NM_001353949.2:c.5811_5812delinsAG	NP_001340878.1:p.Lys1937=
NM_001353950.2:c.5811_5812delinsAG	NP_001340879.1:p.Lys1937=
NM_001353951.2:c.5811_5812delinsAG	NP_001340880.1:p.Lys1937=
NM_001353952.2:c.5811_5812delinsAG	NP_001340881.1:p.Lys1937=
NM_001353954.2:c.5808_5809delinsAG	NP_001340883.1:p.Lys1936=
NM_001353955.2:c.5808_5809delinsAG	NP_001340884.1:p.Lys1936=
NM_001353957.2:c.5760_5761delinsAG	NP_001340886.1:p.Lys1920=
NM_001353958.2:c.5760_5761delinsAG	NP_001340887.1:p.Lys1920=
NM_001353960.2:c.5757_5758delinsAG	NP_001340889.1:p.Lys1919=
NM_001353961.2:c.3402_3403delinsAG	NP_001340890.1:p.Lys1134=
NM_006920.6:c.5811_5812delinsAG	NP_008851.3:p.Lys1937=
NR_148667.2:n.6261_6262delinsAG
NM_001165963.4:c.5844_5845delinsAG MANE Select	NP_001159435.1:p.Lys1948=