Canonical Allele Identifier: CA1304837814

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 1016118
• ClinVar RCV Id: RCV001315081
• dbSNP Id: rs1689085952

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991268_165991270del , CM000664.2:g.165991268_165991270del	GRCh38
NC_000002.11:g.166847778_166847780del , CM000664.1:g.166847778_166847780del	GRCh37
NC_000002.10:g.166556024_166556026del	NCBI36
NG_011906.1:g.87371_87373del , LRG_8:g.87371_87373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*4042_*4044del	ENSP00000509637.1:n.*4042_*4044del
ENST00000303395.9:c.6006_6008del	ENSP00000303540.4:p.Lys2002_Asp2003delinsAsn
ENST00000635750.1:c.5973_5975del	ENSP00000490799.1:p.Lys1991_Asp1992delinsAsn
ENST00000635776.1:c.*2839_*2841del	ENSP00000490692.1:n.*2839_*2841del
ENST00000636194.1:c.*3499_*3501del	ENSP00000490288.1:n.*3499_*3501del
ENST00000637038.1:c.2868_2870del
ENST00000637988.1:c.5973_5975del	ENSP00000490780.1:p.Lys1991_Asp1992delinsAsn
ENST00000640036.1:c.5973_5975del	ENSP00000491573.1:p.Lys1991_Asp1992delinsAsn
ENST00000641575.1:c.5970_5972del	ENSP00000492917.1:p.Lys1990_Asp1991delinsAsn
ENST00000641603.1:c.5724_5726del	ENSP00000492945.1:p.Lys1908_Asp1909delinsAsn
ENST00000641996.1:c.*5560_*5562del	ENSP00000493054.1:n.*5560_*5562del
ENST00000671940.1:c.*3949_*3951del	ENSP00000500336.1:n.*3949_*3951del
ENST00000673490.1:n.8479_8481del
ENST00000674923.1:c.6006_6008del MANE Select	ENSP00000501589.1:p.Lys2002_Asp2003delinsAsn
ENST00000303395.8:c.6006_6008del	ENSP00000303540.4:p.Lys2002_Asp2003delinsAsn
ENST00000375405.7:c.5973_5975del	ENSP00000364554.3:p.Lys1991_Asp1992delinsAsn
ENST00000409050.1:c.5922_5924del	ENSP00000386312.1:p.Lys1974_Asp1975delinsAsn
ENST00000423058.6:c.6006_6008del	ENSP00000407030.2:p.Lys2002_Asp2003delinsAsn
NM_001165963.1:c.6006_6008del	NP_001159435.1:p.Lys2002_Asp2003delinsAsn
NM_001165964.1:c.5922_5924del	NP_001159436.1:p.Lys1974_Asp1975delinsAsn
NM_001202435.1:c.6006_6008del	NP_001189364.1:p.Lys2002_Asp2003delinsAsn
NM_006920.4:c.5973_5975del , LRG_8t1:c.5973_5975del	NP_008851.3:p.Lys1991_Asp1992delinsAsn
NR_110598.1:n.176-24345_176-24343del
XM_011511598.1:c.6006_6008del	XP_011509900.1:p.Lys2002_Asp2003delinsAsn
XM_011511599.1:c.6006_6008del	XP_011509901.1:p.Lys2002_Asp2003delinsAsn
XM_011511600.1:c.6006_6008del	XP_011509902.1:p.Lys2002_Asp2003delinsAsn
XM_011511601.1:c.6006_6008del	XP_011509903.1:p.Lys2002_Asp2003delinsAsn
XM_011511602.1:c.6006_6008del	XP_011509904.1:p.Lys2002_Asp2003delinsAsn
XM_011511603.1:c.6003_6005del	XP_011509905.1:p.Lys2001_Asp2002delinsAsn
XM_011511604.1:c.5973_5975del	XP_011509906.1:p.Lys1991_Asp1992delinsAsn
XM_011511605.1:c.5970_5972del	XP_011509907.1:p.Lys1990_Asp1991delinsAsn
XM_011511606.1:c.5922_5924del	XP_011509908.1:p.Lys1974_Asp1975delinsAsn
XM_011511607.1:c.5724_5726del	XP_011509909.1:p.Lys1908_Asp1909delinsAsn
NM_001165963.2:c.6006_6008del	NP_001159435.1:p.Lys2002_Asp2003delinsAsn
NM_001165964.2:c.5922_5924del	NP_001159436.1:p.Lys1974_Asp1975delinsAsn
NM_001202435.2:c.6006_6008del	NP_001189364.1:p.Lys2002_Asp2003delinsAsn
NM_001353948.1:c.6006_6008del	NP_001340877.1:p.Lys2002_Asp2003delinsAsn
NM_001353949.1:c.5973_5975del	NP_001340878.1:p.Lys1991_Asp1992delinsAsn
NM_001353950.1:c.5973_5975del	NP_001340879.1:p.Lys1991_Asp1992delinsAsn
NM_001353951.1:c.5973_5975del	NP_001340880.1:p.Lys1991_Asp1992delinsAsn
NM_001353952.1:c.5973_5975del	NP_001340881.1:p.Lys1991_Asp1992delinsAsn
NM_001353954.1:c.5970_5972del	NP_001340883.1:p.Lys1990_Asp1991delinsAsn
NM_001353955.1:c.5970_5972del	NP_001340884.1:p.Lys1990_Asp1991delinsAsn
NM_001353957.1:c.5922_5924del	NP_001340886.1:p.Lys1974_Asp1975delinsAsn
NM_001353958.1:c.5922_5924del	NP_001340887.1:p.Lys1974_Asp1975delinsAsn
NM_001353960.1:c.5919_5921del	NP_001340889.1:p.Lys1973_Asp1974delinsAsn
NM_001353961.1:c.3564_3566del	NP_001340890.1:p.Lys1188_Asp1189delinsAsn
NM_006920.5:c.5973_5975del	NP_008851.3:p.Lys1991_Asp1992delinsAsn
NR_148667.1:n.6442_6444del
XR_001738883.1:n.6456_6458del
XR_001738884.1:n.6428_6430del
NM_001165963.3:c.6006_6008del	NP_001159435.1:p.Lys2002_Asp2003delinsAsn
NM_001165964.3:c.5922_5924del	NP_001159436.1:p.Lys1974_Asp1975delinsAsn
NM_001202435.3:c.6006_6008del	NP_001189364.1:p.Lys2002_Asp2003delinsAsn
NM_001353948.2:c.6006_6008del	NP_001340877.1:p.Lys2002_Asp2003delinsAsn
NM_001353949.2:c.5973_5975del	NP_001340878.1:p.Lys1991_Asp1992delinsAsn
NM_001353950.2:c.5973_5975del	NP_001340879.1:p.Lys1991_Asp1992delinsAsn
NM_001353951.2:c.5973_5975del	NP_001340880.1:p.Lys1991_Asp1992delinsAsn
NM_001353952.2:c.5973_5975del	NP_001340881.1:p.Lys1991_Asp1992delinsAsn
NM_001353954.2:c.5970_5972del	NP_001340883.1:p.Lys1990_Asp1991delinsAsn
NM_001353955.2:c.5970_5972del	NP_001340884.1:p.Lys1990_Asp1991delinsAsn
NM_001353957.2:c.5922_5924del	NP_001340886.1:p.Lys1974_Asp1975delinsAsn
NM_001353958.2:c.5922_5924del	NP_001340887.1:p.Lys1974_Asp1975delinsAsn
NM_001353960.2:c.5919_5921del	NP_001340889.1:p.Lys1973_Asp1974delinsAsn
NM_001353961.2:c.3564_3566del	NP_001340890.1:p.Lys1188_Asp1189delinsAsn
NM_006920.6:c.5973_5975del	NP_008851.3:p.Lys1991_Asp1992delinsAsn
NR_148667.2:n.6423_6425del
NM_001165963.4:c.6006_6008del MANE Select	NP_001159435.1:p.Lys2002_Asp2003delinsAsn