Canonical Allele Identifier: CA317741

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 206923
• ClinVar RCV Id: RCV000189066
• dbSNP Id: rs796053085
• MyVariant Identifiers: chr2:g.166848508_166848512del (hg19) ; chr2:g.165991998_165992002del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991999_165992003del , CM000664.2:g.165991999_165992003del	GRCh38
NC_000002.11:g.166848509_166848513del , CM000664.1:g.166848509_166848513del	GRCh37
NC_000002.10:g.166556755_166556759del	NCBI36
NG_011906.1:g.86638_86642del , LRG_8:g.86638_86642del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*3309_*3313del	ENSP00000509637.1:n.*3309_*3313del
ENST00000303395.9:c.5273_5277del	ENSP00000303540.4:p.Asn1758IlefsTer?
ENST00000635750.1:c.5240_5244del	ENSP00000490799.1:p.Asn1747IlefsTer?
ENST00000635776.1:c.*2106_*2110del	ENSP00000490692.1:n.*2106_*2110del
ENST00000636194.1:c.*2766_*2770del	ENSP00000490288.1:n.*2766_*2770del
ENST00000637038.1:c.2135_2139del
ENST00000637988.1:c.5240_5244del	ENSP00000490780.1:p.Asn1747IlefsTer?
ENST00000640036.1:c.5240_5244del	ENSP00000491573.1:p.Asn1747IlefsTer?
ENST00000641575.1:c.5237_5241del	ENSP00000492917.1:p.Asn1746IlefsTer?
ENST00000641603.1:c.4991_4995del	ENSP00000492945.1:p.Asn1664IlefsTer?
ENST00000641996.1:c.*4827_*4831del	ENSP00000493054.1:n.*4827_*4831del
ENST00000671940.1:c.*3216_*3220del	ENSP00000500336.1:n.*3216_*3220del
ENST00000673490.1:n.7746_7750del
ENST00000674923.1:c.5273_5277del MANE Select	ENSP00000501589.1:p.Asn1758IlefsTer?
ENST00000303395.8:c.5273_5277del	ENSP00000303540.4:p.Asn1758IlefsTer?
ENST00000375405.7:c.5240_5244del	ENSP00000364554.3:p.Asn1747IlefsTer?
ENST00000409050.1:c.5189_5193del	ENSP00000386312.1:p.Asn1730IlefsTer?
ENST00000423058.6:c.5273_5277del	ENSP00000407030.2:p.Asn1758IlefsTer?
NM_001165963.1:c.5273_5277del	NP_001159435.1:p.Asn1758IlefsTer?
NM_001165964.1:c.5189_5193del	NP_001159436.1:p.Asn1730IlefsTer?
NM_001202435.1:c.5273_5277del	NP_001189364.1:p.Asn1758IlefsTer?
NM_006920.4:c.5240_5244del , LRG_8t1:c.5240_5244del	NP_008851.3:p.Asn1747IlefsTer?
NR_110598.1:n.176-23614_176-23610del
XM_011511598.1:c.5273_5277del	XP_011509900.1:p.Asn1758IlefsTer?
XM_011511599.1:c.5273_5277del	XP_011509901.1:p.Asn1758IlefsTer?
XM_011511600.1:c.5273_5277del	XP_011509902.1:p.Asn1758IlefsTer?
XM_011511601.1:c.5273_5277del	XP_011509903.1:p.Asn1758IlefsTer?
XM_011511602.1:c.5273_5277del	XP_011509904.1:p.Asn1758IlefsTer?
XM_011511603.1:c.5270_5274del	XP_011509905.1:p.Asn1757IlefsTer?
XM_011511604.1:c.5240_5244del	XP_011509906.1:p.Asn1747IlefsTer?
XM_011511605.1:c.5237_5241del	XP_011509907.1:p.Asn1746IlefsTer?
XM_011511606.1:c.5189_5193del	XP_011509908.1:p.Asn1730IlefsTer?
XM_011511607.1:c.4991_4995del	XP_011509909.1:p.Asn1664IlefsTer?
NM_001165963.2:c.5273_5277del	NP_001159435.1:p.Asn1758IlefsTer?
NM_001165964.2:c.5189_5193del	NP_001159436.1:p.Asn1730IlefsTer?
NM_001202435.2:c.5273_5277del	NP_001189364.1:p.Asn1758IlefsTer?
NM_001353948.1:c.5273_5277del	NP_001340877.1:p.Asn1758IlefsTer?
NM_001353949.1:c.5240_5244del	NP_001340878.1:p.Asn1747IlefsTer?
NM_001353950.1:c.5240_5244del	NP_001340879.1:p.Asn1747IlefsTer?
NM_001353951.1:c.5240_5244del	NP_001340880.1:p.Asn1747IlefsTer?
NM_001353952.1:c.5240_5244del	NP_001340881.1:p.Asn1747IlefsTer?
NM_001353954.1:c.5237_5241del	NP_001340883.1:p.Asn1746IlefsTer?
NM_001353955.1:c.5237_5241del	NP_001340884.1:p.Asn1746IlefsTer?
NM_001353957.1:c.5189_5193del	NP_001340886.1:p.Asn1730IlefsTer?
NM_001353958.1:c.5189_5193del	NP_001340887.1:p.Asn1730IlefsTer?
NM_001353960.1:c.5186_5190del	NP_001340889.1:p.Asn1729IlefsTer?
NM_001353961.1:c.2831_2835del	NP_001340890.1:p.Asn944IlefsTer?
NM_006920.5:c.5240_5244del	NP_008851.3:p.Asn1747IlefsTer?
NR_148667.1:n.5709_5713del
XR_001738883.1:n.5723_5727del
XR_001738884.1:n.5695_5699del
NM_001165963.3:c.5273_5277del	NP_001159435.1:p.Asn1758IlefsTer?
NM_001165964.3:c.5189_5193del	NP_001159436.1:p.Asn1730IlefsTer?
NM_001202435.3:c.5273_5277del	NP_001189364.1:p.Asn1758IlefsTer?
NM_001353948.2:c.5273_5277del	NP_001340877.1:p.Asn1758IlefsTer?
NM_001353949.2:c.5240_5244del	NP_001340878.1:p.Asn1747IlefsTer?
NM_001353950.2:c.5240_5244del	NP_001340879.1:p.Asn1747IlefsTer?
NM_001353951.2:c.5240_5244del	NP_001340880.1:p.Asn1747IlefsTer?
NM_001353952.2:c.5240_5244del	NP_001340881.1:p.Asn1747IlefsTer?
NM_001353954.2:c.5237_5241del	NP_001340883.1:p.Asn1746IlefsTer?
NM_001353955.2:c.5237_5241del	NP_001340884.1:p.Asn1746IlefsTer?
NM_001353957.2:c.5189_5193del	NP_001340886.1:p.Asn1730IlefsTer?
NM_001353958.2:c.5189_5193del	NP_001340887.1:p.Asn1730IlefsTer?
NM_001353960.2:c.5186_5190del	NP_001340889.1:p.Asn1729IlefsTer?
NM_001353961.2:c.2831_2835del	NP_001340890.1:p.Asn944IlefsTer?
NM_006920.6:c.5240_5244del	NP_008851.3:p.Asn1747IlefsTer?
NR_148667.2:n.5690_5694del
NM_001165963.4:c.5273_5277del MANE Select	NP_001159435.1:p.Asn1758IlefsTer?