Canonical Allele Identifier: CA1304859456

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166042248_166042249delinsGT , CM000664.2:g.166042248_166042249delinsGT	GRCh38
NC_000002.11:g.166898758_166898759delinsGT , CM000664.1:g.166898758_166898759delinsGT	GRCh37
NC_000002.10:g.166607004_166607005delinsGT	NCBI36
NG_011906.1:g.36391_36392delinsAC , LRG_8:g.36391_36392delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*212+43_*212+44delinsAC	ENSP00000509637.1:n.*212+43_*212+44delinsAC
ENST00000303395.9:c.2176+43_2176+44delinsAC	ENSP00000303540.4:n.2176+43_2176+44delinsAC
ENST00000635750.1:c.2143+43_2143+44delinsAC	ENSP00000490799.1:n.2143+43_2143+44delinsAC
ENST00000635776.1:c.2143+43_2143+44delinsAC	ENSP00000490692.1:n.2143+43_2143+44delinsAC
ENST00000636194.1:c.2143+43_2143+44delinsAC	ENSP00000490288.1:n.2143+43_2143+44delinsAC
ENST00000636759.1:c.*1966+43_*1966+44delinsAC	ENSP00000490895.1:n.*1966+43_*1966+44delinsAC
ENST00000637968.1:n.2428+43_2428+44delinsAC
ENST00000637988.1:c.2143+43_2143+44delinsAC	ENSP00000490780.1:n.2143+43_2143+44delinsAC
ENST00000640036.1:c.2143+43_2143+44delinsAC	ENSP00000491573.1:n.2143+43_2143+44delinsAC
ENST00000641575.1:c.2140+43_2140+44delinsAC	ENSP00000492917.1:n.2140+43_2140+44delinsAC
ENST00000641603.1:c.2176+43_2176+44delinsAC	ENSP00000492945.1:n.2176+43_2176+44delinsAC
ENST00000641996.1:c.*1730+43_*1730+44delinsAC	ENSP00000493054.1:n.*1730+43_*1730+44delinsAC
ENST00000671940.1:c.*119+43_*119+44delinsAC	ENSP00000500336.1:n.*119+43_*119+44delinsAC
ENST00000673490.1:n.4649+43_4649+44delinsAC
ENST00000674923.1:c.2176+43_2176+44delinsAC MANE Select	ENSP00000501589.1:n.2176+43_2176+44delinsAC
ENST00000303395.8:c.2176+43_2176+44delinsAC	ENSP00000303540.4:n.2176+43_2176+44delinsAC
ENST00000375405.7:c.2143+43_2143+44delinsAC	ENSP00000364554.3:n.2143+43_2143+44delinsAC
ENST00000409050.1:c.2092+43_2092+44delinsAC	ENSP00000386312.1:n.2092+43_2092+44delinsAC
ENST00000423058.6:c.2176+43_2176+44delinsAC	ENSP00000407030.2:n.2176+43_2176+44delinsAC
NM_001165963.1:c.2176+43_2176+44delinsAC	NP_001159435.1:n.2176+43_2176+44delinsAC
NM_001165964.1:c.2092+43_2092+44delinsAC	NP_001159436.1:n.2092+43_2092+44delinsAC
NM_001202435.1:c.2176+43_2176+44delinsAC	NP_001189364.1:n.2176+43_2176+44delinsAC
NM_006920.4:c.2143+43_2143+44delinsAC , LRG_8t1:c.2143+43_2143+44delinsAC	NP_008851.3:n.2143+43_2143+44delinsAC
XM_011511598.1:c.2176+43_2176+44delinsAC	XP_011509900.1:n.2176+43_2176+44delinsAC
XM_011511599.1:c.2176+43_2176+44delinsAC	XP_011509901.1:n.2176+43_2176+44delinsAC
XM_011511600.1:c.2176+43_2176+44delinsAC	XP_011509902.1:n.2176+43_2176+44delinsAC
XM_011511601.1:c.2176+43_2176+44delinsAC	XP_011509903.1:n.2176+43_2176+44delinsAC
XM_011511602.1:c.2176+43_2176+44delinsAC	XP_011509904.1:n.2176+43_2176+44delinsAC
XM_011511603.1:c.2173+43_2173+44delinsAC	XP_011509905.1:n.2173+43_2173+44delinsAC
XM_011511604.1:c.2143+43_2143+44delinsAC	XP_011509906.1:n.2143+43_2143+44delinsAC
XM_011511605.1:c.2140+43_2140+44delinsAC	XP_011509907.1:n.2140+43_2140+44delinsAC
XM_011511606.1:c.2092+43_2092+44delinsAC	XP_011509908.1:n.2092+43_2092+44delinsAC
XM_011511607.1:c.2176+43_2176+44delinsAC	XP_011509909.1:n.2176+43_2176+44delinsAC
XR_922981.1:n.2360+43_2360+44delinsAC
NM_001165963.2:c.2176+43_2176+44delinsAC	NP_001159435.1:n.2176+43_2176+44delinsAC
NM_001165964.2:c.2092+43_2092+44delinsAC	NP_001159436.1:n.2092+43_2092+44delinsAC
NM_001202435.2:c.2176+43_2176+44delinsAC	NP_001189364.1:n.2176+43_2176+44delinsAC
NM_001353948.1:c.2176+43_2176+44delinsAC	NP_001340877.1:n.2176+43_2176+44delinsAC
NM_001353949.1:c.2143+43_2143+44delinsAC	NP_001340878.1:n.2143+43_2143+44delinsAC
NM_001353950.1:c.2143+43_2143+44delinsAC	NP_001340879.1:n.2143+43_2143+44delinsAC
NM_001353951.1:c.2143+43_2143+44delinsAC	NP_001340880.1:n.2143+43_2143+44delinsAC
NM_001353952.1:c.2143+43_2143+44delinsAC	NP_001340881.1:n.2143+43_2143+44delinsAC
NM_001353954.1:c.2140+43_2140+44delinsAC	NP_001340883.1:n.2140+43_2140+44delinsAC
NM_001353955.1:c.2140+43_2140+44delinsAC	NP_001340884.1:n.2140+43_2140+44delinsAC
NM_001353957.1:c.2092+43_2092+44delinsAC	NP_001340886.1:n.2092+43_2092+44delinsAC
NM_001353958.1:c.2092+43_2092+44delinsAC	NP_001340887.1:n.2092+43_2092+44delinsAC
NM_001353960.1:c.2089+43_2089+44delinsAC	NP_001340889.1:n.2089+43_2089+44delinsAC
NM_001353961.1:c.-283+43_-283+44delinsAC	NP_001340890.1:n.-283+43_-283+44delinsAC
NM_006920.5:c.2143+43_2143+44delinsAC	NP_008851.3:n.2143+43_2143+44delinsAC
NR_148667.1:n.2548+43_2548+44delinsAC
XR_001738883.1:n.2562+43_2562+44delinsAC
XR_001738884.1:n.2534+43_2534+44delinsAC
NM_001165963.3:c.2176+43_2176+44delinsAC	NP_001159435.1:n.2176+43_2176+44delinsAC
NM_001165964.3:c.2092+43_2092+44delinsAC	NP_001159436.1:n.2092+43_2092+44delinsAC
NM_001202435.3:c.2176+43_2176+44delinsAC	NP_001189364.1:n.2176+43_2176+44delinsAC
NM_001353948.2:c.2176+43_2176+44delinsAC	NP_001340877.1:n.2176+43_2176+44delinsAC
NM_001353949.2:c.2143+43_2143+44delinsAC	NP_001340878.1:n.2143+43_2143+44delinsAC
NM_001353950.2:c.2143+43_2143+44delinsAC	NP_001340879.1:n.2143+43_2143+44delinsAC
NM_001353951.2:c.2143+43_2143+44delinsAC	NP_001340880.1:n.2143+43_2143+44delinsAC
NM_001353952.2:c.2143+43_2143+44delinsAC	NP_001340881.1:n.2143+43_2143+44delinsAC
NM_001353954.2:c.2140+43_2140+44delinsAC	NP_001340883.1:n.2140+43_2140+44delinsAC
NM_001353955.2:c.2140+43_2140+44delinsAC	NP_001340884.1:n.2140+43_2140+44delinsAC
NM_001353957.2:c.2092+43_2092+44delinsAC	NP_001340886.1:n.2092+43_2092+44delinsAC
NM_001353958.2:c.2092+43_2092+44delinsAC	NP_001340887.1:n.2092+43_2092+44delinsAC
NM_001353960.2:c.2089+43_2089+44delinsAC	NP_001340889.1:n.2089+43_2089+44delinsAC
NM_001353961.2:c.-283+43_-283+44delinsAC	NP_001340890.1:n.-283+43_-283+44delinsAC
NM_006920.6:c.2143+43_2143+44delinsAC	NP_008851.3:n.2143+43_2143+44delinsAC
NR_148667.2:n.2529+43_2529+44delinsAC
NM_001165963.4:c.2176+43_2176+44delinsAC MANE Select	NP_001159435.1:n.2176+43_2176+44delinsAC