Canonical Allele Identifier: CA2586970221

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991630_165991635delinsTACTCTAG , CM000664.2:g.165991630_165991635delinsTACTCTAG	GRCh38
NC_000002.11:g.166848140_166848145delinsTACTCTAG , CM000664.1:g.166848140_166848145delinsTACTCTAG	GRCh37
NC_000002.10:g.166556386_166556391delinsTACTCTAG	NCBI36
NG_011906.1:g.87005_87010delinsCTAGAGTA , LRG_8:g.87005_87010delinsCTAGAGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*3676_*3681delinsCTAGAGTA	ENSP00000509637.1:n.*3676_*3681delinsCTAGAGTA
ENST00000303395.9:c.5640_5645delinsCTAGAGTA	ENSP00000303540.4:p.Glu1881Ter
ENST00000635750.1:c.5607_5612delinsCTAGAGTA	ENSP00000490799.1:p.Glu1870Ter
ENST00000635776.1:c.*2473_*2478delinsCTAGAGTA	ENSP00000490692.1:n.*2473_*2478delinsCTAGAGTA
ENST00000636194.1:c.*3133_*3138delinsCTAGAGTA	ENSP00000490288.1:n.*3133_*3138delinsCTAGAGTA
ENST00000637038.1:c.2502_2507delinsCTAGAGTA
ENST00000637988.1:c.5607_5612delinsCTAGAGTA	ENSP00000490780.1:p.Glu1870Ter
ENST00000640036.1:c.5607_5612delinsCTAGAGTA	ENSP00000491573.1:p.Glu1870Ter
ENST00000641575.1:c.5604_5609delinsCTAGAGTA	ENSP00000492917.1:p.Glu1869Ter
ENST00000641603.1:c.5358_5363delinsCTAGAGTA	ENSP00000492945.1:p.Glu1787Ter
ENST00000641996.1:c.*5194_*5199delinsCTAGAGTA	ENSP00000493054.1:n.*5194_*5199delinsCTAGAGTA
ENST00000671940.1:c.*3583_*3588delinsCTAGAGTA	ENSP00000500336.1:n.*3583_*3588delinsCTAGAGTA
ENST00000673490.1:n.8113_8118delinsCTAGAGTA
ENST00000674923.1:c.5640_5645delinsCTAGAGTA MANE Select	ENSP00000501589.1:p.Glu1881Ter
ENST00000303395.8:c.5640_5645delinsCTAGAGTA	ENSP00000303540.4:p.Glu1881Ter
ENST00000375405.7:c.5607_5612delinsCTAGAGTA	ENSP00000364554.3:p.Glu1870Ter
ENST00000409050.1:c.5556_5561delinsCTAGAGTA	ENSP00000386312.1:p.Glu1853Ter
ENST00000423058.6:c.5640_5645delinsCTAGAGTA	ENSP00000407030.2:p.Glu1881Ter
NM_001165963.1:c.5640_5645delinsCTAGAGTA	NP_001159435.1:p.Glu1881Ter
NM_001165964.1:c.5556_5561delinsCTAGAGTA	NP_001159436.1:p.Glu1853Ter
NM_001202435.1:c.5640_5645delinsCTAGAGTA	NP_001189364.1:p.Glu1881Ter
NM_006920.4:c.5607_5612delinsCTAGAGTA , LRG_8t1:c.5607_5612delinsCTAGAGTA	NP_008851.3:p.Glu1870Ter
NR_110598.1:n.176-23983_176-23978delinsTACTCTAG
XM_011511598.1:c.5640_5645delinsCTAGAGTA	XP_011509900.1:p.Glu1881Ter
XM_011511599.1:c.5640_5645delinsCTAGAGTA	XP_011509901.1:p.Glu1881Ter
XM_011511600.1:c.5640_5645delinsCTAGAGTA	XP_011509902.1:p.Glu1881Ter
XM_011511601.1:c.5640_5645delinsCTAGAGTA	XP_011509903.1:p.Glu1881Ter
XM_011511602.1:c.5640_5645delinsCTAGAGTA	XP_011509904.1:p.Glu1881Ter
XM_011511603.1:c.5637_5642delinsCTAGAGTA	XP_011509905.1:p.Glu1880Ter
XM_011511604.1:c.5607_5612delinsCTAGAGTA	XP_011509906.1:p.Glu1870Ter
XM_011511605.1:c.5604_5609delinsCTAGAGTA	XP_011509907.1:p.Glu1869Ter
XM_011511606.1:c.5556_5561delinsCTAGAGTA	XP_011509908.1:p.Glu1853Ter
XM_011511607.1:c.5358_5363delinsCTAGAGTA	XP_011509909.1:p.Glu1787Ter
NM_001165963.2:c.5640_5645delinsCTAGAGTA	NP_001159435.1:p.Glu1881Ter
NM_001165964.2:c.5556_5561delinsCTAGAGTA	NP_001159436.1:p.Glu1853Ter
NM_001202435.2:c.5640_5645delinsCTAGAGTA	NP_001189364.1:p.Glu1881Ter
NM_001353948.1:c.5640_5645delinsCTAGAGTA	NP_001340877.1:p.Glu1881Ter
NM_001353949.1:c.5607_5612delinsCTAGAGTA	NP_001340878.1:p.Glu1870Ter
NM_001353950.1:c.5607_5612delinsCTAGAGTA	NP_001340879.1:p.Glu1870Ter
NM_001353951.1:c.5607_5612delinsCTAGAGTA	NP_001340880.1:p.Glu1870Ter
NM_001353952.1:c.5607_5612delinsCTAGAGTA	NP_001340881.1:p.Glu1870Ter
NM_001353954.1:c.5604_5609delinsCTAGAGTA	NP_001340883.1:p.Glu1869Ter
NM_001353955.1:c.5604_5609delinsCTAGAGTA	NP_001340884.1:p.Glu1869Ter
NM_001353957.1:c.5556_5561delinsCTAGAGTA	NP_001340886.1:p.Glu1853Ter
NM_001353958.1:c.5556_5561delinsCTAGAGTA	NP_001340887.1:p.Glu1853Ter
NM_001353960.1:c.5553_5558delinsCTAGAGTA	NP_001340889.1:p.Glu1852Ter
NM_001353961.1:c.3198_3203delinsCTAGAGTA	NP_001340890.1:p.Glu1067Ter
NM_006920.5:c.5607_5612delinsCTAGAGTA	NP_008851.3:p.Glu1870Ter
NR_148667.1:n.6076_6081delinsCTAGAGTA
XR_001738883.1:n.6090_6095delinsCTAGAGTA
XR_001738884.1:n.6062_6067delinsCTAGAGTA
NM_001165963.3:c.5640_5645delinsCTAGAGTA	NP_001159435.1:p.Glu1881Ter
NM_001165964.3:c.5556_5561delinsCTAGAGTA	NP_001159436.1:p.Glu1853Ter
NM_001202435.3:c.5640_5645delinsCTAGAGTA	NP_001189364.1:p.Glu1881Ter
NM_001353948.2:c.5640_5645delinsCTAGAGTA	NP_001340877.1:p.Glu1881Ter
NM_001353949.2:c.5607_5612delinsCTAGAGTA	NP_001340878.1:p.Glu1870Ter
NM_001353950.2:c.5607_5612delinsCTAGAGTA	NP_001340879.1:p.Glu1870Ter
NM_001353951.2:c.5607_5612delinsCTAGAGTA	NP_001340880.1:p.Glu1870Ter
NM_001353952.2:c.5607_5612delinsCTAGAGTA	NP_001340881.1:p.Glu1870Ter
NM_001353954.2:c.5604_5609delinsCTAGAGTA	NP_001340883.1:p.Glu1869Ter
NM_001353955.2:c.5604_5609delinsCTAGAGTA	NP_001340884.1:p.Glu1869Ter
NM_001353957.2:c.5556_5561delinsCTAGAGTA	NP_001340886.1:p.Glu1853Ter
NM_001353958.2:c.5556_5561delinsCTAGAGTA	NP_001340887.1:p.Glu1853Ter
NM_001353960.2:c.5553_5558delinsCTAGAGTA	NP_001340889.1:p.Glu1852Ter
NM_001353961.2:c.3198_3203delinsCTAGAGTA	NP_001340890.1:p.Glu1067Ter
NM_006920.6:c.5607_5612delinsCTAGAGTA	NP_008851.3:p.Glu1870Ter
NR_148667.2:n.6057_6062delinsCTAGAGTA
NM_001165963.4:c.5640_5645delinsCTAGAGTA MANE Select	NP_001159435.1:p.Glu1881Ter