Canonical Allele Identifier: CA915942893

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 648064
• ClinVar RCV Id: RCV000802708
• dbSNP Id: rs1574201591

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166041236_166041254del , CM000664.2:g.166041236_166041254del	GRCh38
NC_000002.11:g.166897746_166897764del , CM000664.1:g.166897746_166897764del	GRCh37
NC_000002.10:g.166605992_166606010del	NCBI36
NG_011906.1:g.37387_37405del , LRG_8:g.37387_37405del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*429_*447del	ENSP00000509637.1:n.*429_*447del
ENST00000303395.9:c.2393_2411del	ENSP00000303540.4:p.Asn798ThrfsTer14
ENST00000635750.1:c.2360_2378del	ENSP00000490799.1:p.Asn787ThrfsTer14
ENST00000635776.1:c.2360_2378del	ENSP00000490692.1:p.Asn787ThrfsTer14
ENST00000636194.1:c.2360_2378del	ENSP00000490288.1:p.Asn787ThrfsTer3
ENST00000636759.1:c.*2183_*2201del	ENSP00000490895.1:n.*2183_*2201del
ENST00000637968.1:n.2645_2663del
ENST00000637988.1:c.2360_2378del	ENSP00000490780.1:p.Asn787ThrfsTer14
ENST00000640036.1:c.2360_2378del	ENSP00000491573.1:p.Asn787ThrfsTer14
ENST00000641575.1:c.2357_2375del	ENSP00000492917.1:p.Asn786ThrfsTer14
ENST00000641603.1:c.2393_2411del	ENSP00000492945.1:p.Asn798ThrfsTer14
ENST00000641996.1:c.*1947_*1965del	ENSP00000493054.1:n.*1947_*1965del
ENST00000671940.1:c.*336_*354del	ENSP00000500336.1:n.*336_*354del
ENST00000673490.1:n.4866_4884del
ENST00000674923.1:c.2393_2411del MANE Select	ENSP00000501589.1:p.Asn798ThrfsTer14
ENST00000303395.8:c.2393_2411del	ENSP00000303540.4:p.Asn798ThrfsTer14
ENST00000375405.7:c.2360_2378del	ENSP00000364554.3:p.Asn787ThrfsTer14
ENST00000409050.1:c.2309_2327del	ENSP00000386312.1:p.Asn770ThrfsTer14
ENST00000423058.6:c.2393_2411del	ENSP00000407030.2:p.Asn798ThrfsTer14
NM_001165963.1:c.2393_2411del	NP_001159435.1:p.Asn798ThrfsTer14
NM_001165964.1:c.2309_2327del	NP_001159436.1:p.Asn770ThrfsTer14
NM_001202435.1:c.2393_2411del	NP_001189364.1:p.Asn798ThrfsTer14
NM_006920.4:c.2360_2378del , LRG_8t1:c.2360_2378del	NP_008851.3:p.Asn787ThrfsTer14
XM_011511598.1:c.2393_2411del	XP_011509900.1:p.Asn798ThrfsTer14
XM_011511599.1:c.2393_2411del	XP_011509901.1:p.Asn798ThrfsTer14
XM_011511600.1:c.2393_2411del	XP_011509902.1:p.Asn798ThrfsTer14
XM_011511601.1:c.2393_2411del	XP_011509903.1:p.Asn798ThrfsTer14
XM_011511602.1:c.2393_2411del	XP_011509904.1:p.Asn798ThrfsTer14
XM_011511603.1:c.2390_2408del	XP_011509905.1:p.Asn797ThrfsTer14
XM_011511604.1:c.2360_2378del	XP_011509906.1:p.Asn787ThrfsTer14
XM_011511605.1:c.2357_2375del	XP_011509907.1:p.Asn786ThrfsTer14
XM_011511606.1:c.2309_2327del	XP_011509908.1:p.Asn770ThrfsTer14
XM_011511607.1:c.2393_2411del	XP_011509909.1:p.Asn798ThrfsTer14
XR_922981.1:n.2577_2595del
NM_001165963.2:c.2393_2411del	NP_001159435.1:p.Asn798ThrfsTer14
NM_001165964.2:c.2309_2327del	NP_001159436.1:p.Asn770ThrfsTer14
NM_001202435.2:c.2393_2411del	NP_001189364.1:p.Asn798ThrfsTer14
NM_001353948.1:c.2393_2411del	NP_001340877.1:p.Asn798ThrfsTer14
NM_001353949.1:c.2360_2378del	NP_001340878.1:p.Asn787ThrfsTer14
NM_001353950.1:c.2360_2378del	NP_001340879.1:p.Asn787ThrfsTer14
NM_001353951.1:c.2360_2378del	NP_001340880.1:p.Asn787ThrfsTer14
NM_001353952.1:c.2360_2378del	NP_001340881.1:p.Asn787ThrfsTer14
NM_001353954.1:c.2357_2375del	NP_001340883.1:p.Asn786ThrfsTer14
NM_001353955.1:c.2357_2375del	NP_001340884.1:p.Asn786ThrfsTer14
NM_001353957.1:c.2309_2327del	NP_001340886.1:p.Asn770ThrfsTer14
NM_001353958.1:c.2309_2327del	NP_001340887.1:p.Asn770ThrfsTer14
NM_001353960.1:c.2306_2324del	NP_001340889.1:p.Asn769ThrfsTer14
NM_001353961.1:c.-66_-48del	NP_001340890.1:n.-66_-48del
NM_006920.5:c.2360_2378del	NP_008851.3:p.Asn787ThrfsTer14
NR_148667.1:n.2765_2783del
XR_001738883.1:n.2779_2797del
XR_001738884.1:n.2751_2769del
NM_001165963.3:c.2393_2411del	NP_001159435.1:p.Asn798ThrfsTer14
NM_001165964.3:c.2309_2327del	NP_001159436.1:p.Asn770ThrfsTer14
NM_001202435.3:c.2393_2411del	NP_001189364.1:p.Asn798ThrfsTer14
NM_001353948.2:c.2393_2411del	NP_001340877.1:p.Asn798ThrfsTer14
NM_001353949.2:c.2360_2378del	NP_001340878.1:p.Asn787ThrfsTer14
NM_001353950.2:c.2360_2378del	NP_001340879.1:p.Asn787ThrfsTer14
NM_001353951.2:c.2360_2378del	NP_001340880.1:p.Asn787ThrfsTer14
NM_001353952.2:c.2360_2378del	NP_001340881.1:p.Asn787ThrfsTer14
NM_001353954.2:c.2357_2375del	NP_001340883.1:p.Asn786ThrfsTer14
NM_001353955.2:c.2357_2375del	NP_001340884.1:p.Asn786ThrfsTer14
NM_001353957.2:c.2309_2327del	NP_001340886.1:p.Asn770ThrfsTer14
NM_001353958.2:c.2309_2327del	NP_001340887.1:p.Asn770ThrfsTer14
NM_001353960.2:c.2306_2324del	NP_001340889.1:p.Asn769ThrfsTer14
NM_001353961.2:c.-66_-48del	NP_001340890.1:n.-66_-48del
NM_006920.6:c.2360_2378del	NP_008851.3:p.Asn787ThrfsTer14
NR_148667.2:n.2746_2764del
NM_001165963.4:c.2393_2411del MANE Select	NP_001159435.1:p.Asn798ThrfsTer14