Canonical Allele Identifier: CA537133859

Gene: SCN1A

Linked Data

• dbSNP Id: rs1258112692
• gnomAD v2: 2-166858929-TTTG-T
• gnomAD v3: 2-166002419-TTTG-T
• gnomAD v4: 2-166002419-TTTG-T
• MyVariant Identifiers: chr2:g.166858930_166858932del (hg19) ; chr2:g.166002420_166002422del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166002422_166002424del , CM000664.2:g.166002422_166002424del	GRCh38
NC_000002.11:g.166858932_166858934del , CM000664.1:g.166858932_166858934del	GRCh37
NC_000002.10:g.166567178_166567180del	NCBI36
NG_011906.1:g.76218_76220del , LRG_8:g.76218_76220del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*2320+50_*2320+52del	ENSP00000509637.1:n.*2320+50_*2320+52del
ENST00000303395.9:c.4284+50_4284+52del	ENSP00000303540.4:n.4284+50_4284+52del
ENST00000635750.1:c.4251+50_4251+52del	ENSP00000490799.1:n.4251+50_4251+52del
ENST00000635776.1:c.4251+50_4251+52del	ENSP00000490692.1:n.4251+50_4251+52del
ENST00000635893.1:c.15+50_15+52del	ENSP00000489986.1:n.15+50_15+52del
ENST00000636194.1:c.*1777+50_*1777+52del	ENSP00000490288.1:n.*1777+50_*1777+52del
ENST00000637038.1:c.1146+50_1146+52del
ENST00000637988.1:c.4251+50_4251+52del	ENSP00000490780.1:n.4251+50_4251+52del
ENST00000640036.1:c.4251+50_4251+52del	ENSP00000491573.1:n.4251+50_4251+52del
ENST00000641575.1:c.4248+50_4248+52del	ENSP00000492917.1:n.4248+50_4248+52del
ENST00000641603.1:c.4003-2646_4003-2644del	ENSP00000492945.1:n.4003-2646_4003-2644de...
ENST00000641996.1:c.*3838+50_*3838+52del	ENSP00000493054.1:n.*3838+50_*3838+52del
ENST00000671940.1:c.*2227+50_*2227+52del	ENSP00000500336.1:n.*2227+50_*2227+52del
ENST00000673490.1:n.6757+50_6757+52del
ENST00000674923.1:c.4284+50_4284+52del MANE Select	ENSP00000501589.1:n.4284+50_4284+52del
ENST00000303395.8:c.4284+50_4284+52del	ENSP00000303540.4:n.4284+50_4284+52del
ENST00000375405.7:c.4251+50_4251+52del	ENSP00000364554.3:n.4251+50_4251+52del
ENST00000409050.1:c.4200+50_4200+52del	ENSP00000386312.1:n.4200+50_4200+52del
ENST00000423058.6:c.4284+50_4284+52del	ENSP00000407030.2:n.4284+50_4284+52del
ENST00000491429.1:n.437+50_437+52del
NM_001165963.1:c.4284+50_4284+52del	NP_001159435.1:n.4284+50_4284+52del
NM_001165964.1:c.4200+50_4200+52del	NP_001159436.1:n.4200+50_4200+52del
NM_001202435.1:c.4284+50_4284+52del	NP_001189364.1:n.4284+50_4284+52del
NM_006920.4:c.4251+50_4251+52del , LRG_8t1:c.4251+50_4251+52del	NP_008851.3:n.4251+50_4251+52del
NR_110598.1:n.176-13191_176-13189del
XM_011511598.1:c.4284+50_4284+52del	XP_011509900.1:n.4284+50_4284+52del
XM_011511599.1:c.4284+50_4284+52del	XP_011509901.1:n.4284+50_4284+52del
XM_011511600.1:c.4284+50_4284+52del	XP_011509902.1:n.4284+50_4284+52del
XM_011511601.1:c.4284+50_4284+52del	XP_011509903.1:n.4284+50_4284+52del
XM_011511602.1:c.4284+50_4284+52del	XP_011509904.1:n.4284+50_4284+52del
XM_011511603.1:c.4281+50_4281+52del	XP_011509905.1:n.4281+50_4281+52del
XM_011511604.1:c.4251+50_4251+52del	XP_011509906.1:n.4251+50_4251+52del
XM_011511605.1:c.4248+50_4248+52del	XP_011509907.1:n.4248+50_4248+52del
XM_011511606.1:c.4200+50_4200+52del	XP_011509908.1:n.4200+50_4200+52del
XM_011511607.1:c.4003-2646_4003-2644del	XP_011509909.1:n.4003-2646_4003-2644del
XR_922981.1:n.4532+50_4532+52del
NM_001165963.2:c.4284+50_4284+52del	NP_001159435.1:n.4284+50_4284+52del
NM_001165964.2:c.4200+50_4200+52del	NP_001159436.1:n.4200+50_4200+52del
NM_001202435.2:c.4284+50_4284+52del	NP_001189364.1:n.4284+50_4284+52del
NM_001353948.1:c.4284+50_4284+52del	NP_001340877.1:n.4284+50_4284+52del
NM_001353949.1:c.4251+50_4251+52del	NP_001340878.1:n.4251+50_4251+52del
NM_001353950.1:c.4251+50_4251+52del	NP_001340879.1:n.4251+50_4251+52del
NM_001353951.1:c.4251+50_4251+52del	NP_001340880.1:n.4251+50_4251+52del
NM_001353952.1:c.4251+50_4251+52del	NP_001340881.1:n.4251+50_4251+52del
NM_001353954.1:c.4248+50_4248+52del	NP_001340883.1:n.4248+50_4248+52del
NM_001353955.1:c.4248+50_4248+52del	NP_001340884.1:n.4248+50_4248+52del
NM_001353957.1:c.4200+50_4200+52del	NP_001340886.1:n.4200+50_4200+52del
NM_001353958.1:c.4200+50_4200+52del	NP_001340887.1:n.4200+50_4200+52del
NM_001353960.1:c.4197+50_4197+52del	NP_001340889.1:n.4197+50_4197+52del
NM_001353961.1:c.1842+50_1842+52del	NP_001340890.1:n.1842+50_1842+52del
NM_006920.5:c.4251+50_4251+52del	NP_008851.3:n.4251+50_4251+52del
NR_148667.1:n.4720+50_4720+52del
XR_001738883.1:n.4734+50_4734+52del
XR_001738884.1:n.4706+50_4706+52del
NM_001165963.3:c.4284+50_4284+52del	NP_001159435.1:n.4284+50_4284+52del
NM_001165964.3:c.4200+50_4200+52del	NP_001159436.1:n.4200+50_4200+52del
NM_001202435.3:c.4284+50_4284+52del	NP_001189364.1:n.4284+50_4284+52del
NM_001353948.2:c.4284+50_4284+52del	NP_001340877.1:n.4284+50_4284+52del
NM_001353949.2:c.4251+50_4251+52del	NP_001340878.1:n.4251+50_4251+52del
NM_001353950.2:c.4251+50_4251+52del	NP_001340879.1:n.4251+50_4251+52del
NM_001353951.2:c.4251+50_4251+52del	NP_001340880.1:n.4251+50_4251+52del
NM_001353952.2:c.4251+50_4251+52del	NP_001340881.1:n.4251+50_4251+52del
NM_001353954.2:c.4248+50_4248+52del	NP_001340883.1:n.4248+50_4248+52del
NM_001353955.2:c.4248+50_4248+52del	NP_001340884.1:n.4248+50_4248+52del
NM_001353957.2:c.4200+50_4200+52del	NP_001340886.1:n.4200+50_4200+52del
NM_001353958.2:c.4200+50_4200+52del	NP_001340887.1:n.4200+50_4200+52del
NM_001353960.2:c.4197+50_4197+52del	NP_001340889.1:n.4197+50_4197+52del
NM_001353961.2:c.1842+50_1842+52del	NP_001340890.1:n.1842+50_1842+52del
NM_006920.6:c.4251+50_4251+52del	NP_008851.3:n.4251+50_4251+52del
NR_148667.2:n.4701+50_4701+52del
NM_001165963.4:c.4284+50_4284+52del MANE Select	NP_001159435.1:n.4284+50_4284+52del