Canonical Allele Identifier: CA16617282

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 418995
• ClinVar RCV Id: RCV000479323
• dbSNP Id: rs1553520298
• MyVariant Identifiers: chr2:g.166848587_166848603del (hg19) ; chr2:g.165992077_165992093del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165992079_165992095del , CM000664.2:g.165992079_165992095del	GRCh38
NC_000002.11:g.166848589_166848605del , CM000664.1:g.166848589_166848605del	GRCh37
NC_000002.10:g.166556835_166556851del	NCBI36
NG_011906.1:g.86547_86563del , LRG_8:g.86547_86563del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*3218_*3234del	ENSP00000509637.1:n.*3218_*3234del
ENST00000303395.9:c.5182_5198del	ENSP00000303540.4:p.Gly1728SerfsTer4
ENST00000635750.1:c.5149_5165del	ENSP00000490799.1:p.Gly1717SerfsTer4
ENST00000635776.1:c.*2015_*2031del	ENSP00000490692.1:n.*2015_*2031del
ENST00000636194.1:c.*2675_*2691del	ENSP00000490288.1:n.*2675_*2691del
ENST00000637038.1:c.2044_2060del
ENST00000637988.1:c.5149_5165del	ENSP00000490780.1:p.Gly1717SerfsTer4
ENST00000640036.1:c.5149_5165del	ENSP00000491573.1:p.Gly1717SerfsTer4
ENST00000641575.1:c.5146_5162del	ENSP00000492917.1:p.Gly1716SerfsTer4
ENST00000641603.1:c.4900_4916del	ENSP00000492945.1:p.Gly1634SerfsTer4
ENST00000641996.1:c.*4736_*4752del	ENSP00000493054.1:n.*4736_*4752del
ENST00000671940.1:c.*3125_*3141del	ENSP00000500336.1:n.*3125_*3141del
ENST00000673490.1:n.7655_7671del
ENST00000674923.1:c.5182_5198del MANE Select	ENSP00000501589.1:p.Gly1728SerfsTer4
ENST00000303395.8:c.5182_5198del	ENSP00000303540.4:p.Gly1728SerfsTer4
ENST00000375405.7:c.5149_5165del	ENSP00000364554.3:p.Gly1717SerfsTer4
ENST00000409050.1:c.5098_5114del	ENSP00000386312.1:p.Gly1700SerfsTer4
ENST00000423058.6:c.5182_5198del	ENSP00000407030.2:p.Gly1728SerfsTer4
NM_001165963.1:c.5182_5198del	NP_001159435.1:p.Gly1728SerfsTer4
NM_001165964.1:c.5098_5114del	NP_001159436.1:p.Gly1700SerfsTer4
NM_001202435.1:c.5182_5198del	NP_001189364.1:p.Gly1728SerfsTer4
NM_006920.4:c.5149_5165del , LRG_8t1:c.5149_5165del	NP_008851.3:p.Gly1717SerfsTer4
NR_110598.1:n.176-23534_176-23518del
XM_011511598.1:c.5182_5198del	XP_011509900.1:p.Gly1728SerfsTer4
XM_011511599.1:c.5182_5198del	XP_011509901.1:p.Gly1728SerfsTer4
XM_011511600.1:c.5182_5198del	XP_011509902.1:p.Gly1728SerfsTer4
XM_011511601.1:c.5182_5198del	XP_011509903.1:p.Gly1728SerfsTer4
XM_011511602.1:c.5182_5198del	XP_011509904.1:p.Gly1728SerfsTer4
XM_011511603.1:c.5179_5195del	XP_011509905.1:p.Gly1727SerfsTer4
XM_011511604.1:c.5149_5165del	XP_011509906.1:p.Gly1717SerfsTer4
XM_011511605.1:c.5146_5162del	XP_011509907.1:p.Gly1716SerfsTer4
XM_011511606.1:c.5098_5114del	XP_011509908.1:p.Gly1700SerfsTer4
XM_011511607.1:c.4900_4916del	XP_011509909.1:p.Gly1634SerfsTer4
NM_001165963.2:c.5182_5198del	NP_001159435.1:p.Gly1728SerfsTer4
NM_001165964.2:c.5098_5114del	NP_001159436.1:p.Gly1700SerfsTer4
NM_001202435.2:c.5182_5198del	NP_001189364.1:p.Gly1728SerfsTer4
NM_001353948.1:c.5182_5198del	NP_001340877.1:p.Gly1728SerfsTer4
NM_001353949.1:c.5149_5165del	NP_001340878.1:p.Gly1717SerfsTer4
NM_001353950.1:c.5149_5165del	NP_001340879.1:p.Gly1717SerfsTer4
NM_001353951.1:c.5149_5165del	NP_001340880.1:p.Gly1717SerfsTer4
NM_001353952.1:c.5149_5165del	NP_001340881.1:p.Gly1717SerfsTer4
NM_001353954.1:c.5146_5162del	NP_001340883.1:p.Gly1716SerfsTer4
NM_001353955.1:c.5146_5162del	NP_001340884.1:p.Gly1716SerfsTer4
NM_001353957.1:c.5098_5114del	NP_001340886.1:p.Gly1700SerfsTer4
NM_001353958.1:c.5098_5114del	NP_001340887.1:p.Gly1700SerfsTer4
NM_001353960.1:c.5095_5111del	NP_001340889.1:p.Gly1699SerfsTer4
NM_001353961.1:c.2740_2756del	NP_001340890.1:p.Gly914SerfsTer4
NM_006920.5:c.5149_5165del	NP_008851.3:p.Gly1717SerfsTer4
NR_148667.1:n.5618_5634del
XR_001738883.1:n.5632_5648del
XR_001738884.1:n.5604_5620del
NM_001165963.3:c.5182_5198del	NP_001159435.1:p.Gly1728SerfsTer4
NM_001165964.3:c.5098_5114del	NP_001159436.1:p.Gly1700SerfsTer4
NM_001202435.3:c.5182_5198del	NP_001189364.1:p.Gly1728SerfsTer4
NM_001353948.2:c.5182_5198del	NP_001340877.1:p.Gly1728SerfsTer4
NM_001353949.2:c.5149_5165del	NP_001340878.1:p.Gly1717SerfsTer4
NM_001353950.2:c.5149_5165del	NP_001340879.1:p.Gly1717SerfsTer4
NM_001353951.2:c.5149_5165del	NP_001340880.1:p.Gly1717SerfsTer4
NM_001353952.2:c.5149_5165del	NP_001340881.1:p.Gly1717SerfsTer4
NM_001353954.2:c.5146_5162del	NP_001340883.1:p.Gly1716SerfsTer4
NM_001353955.2:c.5146_5162del	NP_001340884.1:p.Gly1716SerfsTer4
NM_001353957.2:c.5098_5114del	NP_001340886.1:p.Gly1700SerfsTer4
NM_001353958.2:c.5098_5114del	NP_001340887.1:p.Gly1700SerfsTer4
NM_001353960.2:c.5095_5111del	NP_001340889.1:p.Gly1699SerfsTer4
NM_001353961.2:c.2740_2756del	NP_001340890.1:p.Gly914SerfsTer4
NM_006920.6:c.5149_5165del	NP_008851.3:p.Gly1717SerfsTer4
NR_148667.2:n.5599_5615del
NM_001165963.4:c.5182_5198del MANE Select	NP_001159435.1:p.Gly1728SerfsTer4