Canonical Allele Identifier: CA1304842260

Gene: SCN1A

Linked Data

• dbSNP Id: rs1691010020
• gnomAD v4: 2-166002364-TAGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166002370_166002373del , CM000664.2:g.166002370_166002373del	GRCh38
NC_000002.11:g.166858880_166858883del , CM000664.1:g.166858880_166858883del	GRCh37
NC_000002.10:g.166567126_166567129del	NCBI36
NG_011906.1:g.76272_76275del , LRG_8:g.76272_76275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*2320+104_*2320+107del	ENSP00000509637.1:n.*2320+104_*2320+107del
ENST00000303395.9:c.4284+104_4284+107del	ENSP00000303540.4:n.4284+104_4284+107del
ENST00000635750.1:c.4251+104_4251+107del	ENSP00000490799.1:n.4251+104_4251+107del
ENST00000635776.1:c.4251+104_4251+107del	ENSP00000490692.1:n.4251+104_4251+107del
ENST00000635893.1:c.15+104_15+107del	ENSP00000489986.1:n.15+104_15+107del
ENST00000636194.1:c.*1777+104_*1777+107del	ENSP00000490288.1:n.*1777+104_*1777+107del
ENST00000637038.1:c.1146+104_1146+107del
ENST00000637988.1:c.4251+104_4251+107del	ENSP00000490780.1:n.4251+104_4251+107del
ENST00000640036.1:c.4251+104_4251+107del	ENSP00000491573.1:n.4251+104_4251+107del
ENST00000641575.1:c.4248+104_4248+107del	ENSP00000492917.1:n.4248+104_4248+107del
ENST00000641603.1:c.4003-2592_4003-2589del	ENSP00000492945.1:n.4003-2592_4003-2589del
ENST00000641996.1:c.*3838+104_*3838+107del	ENSP00000493054.1:n.*3838+104_*3838+107del
ENST00000671940.1:c.*2227+104_*2227+107del	ENSP00000500336.1:n.*2227+104_*2227+107del
ENST00000673490.1:n.6757+104_6757+107del
ENST00000674923.1:c.4284+104_4284+107del MANE Select	ENSP00000501589.1:n.4284+104_4284+107del
ENST00000303395.8:c.4284+104_4284+107del	ENSP00000303540.4:n.4284+104_4284+107del
ENST00000375405.7:c.4251+104_4251+107del	ENSP00000364554.3:n.4251+104_4251+107del
ENST00000409050.1:c.4200+104_4200+107del	ENSP00000386312.1:n.4200+104_4200+107del
ENST00000423058.6:c.4284+104_4284+107del	ENSP00000407030.2:n.4284+104_4284+107del
ENST00000491429.1:n.437+104_437+107del
NM_001165963.1:c.4284+104_4284+107del	NP_001159435.1:n.4284+104_4284+107del
NM_001165964.1:c.4200+104_4200+107del	NP_001159436.1:n.4200+104_4200+107del
NM_001202435.1:c.4284+104_4284+107del	NP_001189364.1:n.4284+104_4284+107del
NM_006920.4:c.4251+104_4251+107del , LRG_8t1:c.4251+104_4251+107del	NP_008851.3:n.4251+104_4251+107del
NR_110598.1:n.176-13243_176-13240del
XM_011511598.1:c.4284+104_4284+107del	XP_011509900.1:n.4284+104_4284+107del
XM_011511599.1:c.4284+104_4284+107del	XP_011509901.1:n.4284+104_4284+107del
XM_011511600.1:c.4284+104_4284+107del	XP_011509902.1:n.4284+104_4284+107del
XM_011511601.1:c.4284+104_4284+107del	XP_011509903.1:n.4284+104_4284+107del
XM_011511602.1:c.4284+104_4284+107del	XP_011509904.1:n.4284+104_4284+107del
XM_011511603.1:c.4281+104_4281+107del	XP_011509905.1:n.4281+104_4281+107del
XM_011511604.1:c.4251+104_4251+107del	XP_011509906.1:n.4251+104_4251+107del
XM_011511605.1:c.4248+104_4248+107del	XP_011509907.1:n.4248+104_4248+107del
XM_011511606.1:c.4200+104_4200+107del	XP_011509908.1:n.4200+104_4200+107del
XM_011511607.1:c.4003-2592_4003-2589del	XP_011509909.1:n.4003-2592_4003-2589del
XR_922981.1:n.4532+104_4532+107del
NM_001165963.2:c.4284+104_4284+107del	NP_001159435.1:n.4284+104_4284+107del
NM_001165964.2:c.4200+104_4200+107del	NP_001159436.1:n.4200+104_4200+107del
NM_001202435.2:c.4284+104_4284+107del	NP_001189364.1:n.4284+104_4284+107del
NM_001353948.1:c.4284+104_4284+107del	NP_001340877.1:n.4284+104_4284+107del
NM_001353949.1:c.4251+104_4251+107del	NP_001340878.1:n.4251+104_4251+107del
NM_001353950.1:c.4251+104_4251+107del	NP_001340879.1:n.4251+104_4251+107del
NM_001353951.1:c.4251+104_4251+107del	NP_001340880.1:n.4251+104_4251+107del
NM_001353952.1:c.4251+104_4251+107del	NP_001340881.1:n.4251+104_4251+107del
NM_001353954.1:c.4248+104_4248+107del	NP_001340883.1:n.4248+104_4248+107del
NM_001353955.1:c.4248+104_4248+107del	NP_001340884.1:n.4248+104_4248+107del
NM_001353957.1:c.4200+104_4200+107del	NP_001340886.1:n.4200+104_4200+107del
NM_001353958.1:c.4200+104_4200+107del	NP_001340887.1:n.4200+104_4200+107del
NM_001353960.1:c.4197+104_4197+107del	NP_001340889.1:n.4197+104_4197+107del
NM_001353961.1:c.1842+104_1842+107del	NP_001340890.1:n.1842+104_1842+107del
NM_006920.5:c.4251+104_4251+107del	NP_008851.3:n.4251+104_4251+107del
NR_148667.1:n.4720+104_4720+107del
XR_001738883.1:n.4734+104_4734+107del
XR_001738884.1:n.4706+104_4706+107del
NM_001165963.3:c.4284+104_4284+107del	NP_001159435.1:n.4284+104_4284+107del
NM_001165964.3:c.4200+104_4200+107del	NP_001159436.1:n.4200+104_4200+107del
NM_001202435.3:c.4284+104_4284+107del	NP_001189364.1:n.4284+104_4284+107del
NM_001353948.2:c.4284+104_4284+107del	NP_001340877.1:n.4284+104_4284+107del
NM_001353949.2:c.4251+104_4251+107del	NP_001340878.1:n.4251+104_4251+107del
NM_001353950.2:c.4251+104_4251+107del	NP_001340879.1:n.4251+104_4251+107del
NM_001353951.2:c.4251+104_4251+107del	NP_001340880.1:n.4251+104_4251+107del
NM_001353952.2:c.4251+104_4251+107del	NP_001340881.1:n.4251+104_4251+107del
NM_001353954.2:c.4248+104_4248+107del	NP_001340883.1:n.4248+104_4248+107del
NM_001353955.2:c.4248+104_4248+107del	NP_001340884.1:n.4248+104_4248+107del
NM_001353957.2:c.4200+104_4200+107del	NP_001340886.1:n.4200+104_4200+107del
NM_001353958.2:c.4200+104_4200+107del	NP_001340887.1:n.4200+104_4200+107del
NM_001353960.2:c.4197+104_4197+107del	NP_001340889.1:n.4197+104_4197+107del
NM_001353961.2:c.1842+104_1842+107del	NP_001340890.1:n.1842+104_1842+107del
NM_006920.6:c.4251+104_4251+107del	NP_008851.3:n.4251+104_4251+107del
NR_148667.2:n.4701+104_4701+107del
NM_001165963.4:c.4284+104_4284+107del MANE Select	NP_001159435.1:n.4284+104_4284+107del