Canonical Allele Identifier: CA1304858122

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166039402_166039403delinsGC , CM000664.2:g.166039402_166039403delinsGC	GRCh38
NC_000002.11:g.166895912_166895913delinsGC , CM000664.1:g.166895912_166895913delinsGC	GRCh37
NC_000002.10:g.166604158_166604159delinsGC	NCBI36
NG_011906.1:g.39237_39238delinsGC , LRG_8:g.39237_39238delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*625+20_*625+21delinsGC	ENSP00000509637.1:n.*625+20_*625+21delinsGC
ENST00000303395.9:c.2589+20_2589+21delinsGC	ENSP00000303540.4:n.2589+20_2589+21delinsGC
ENST00000635750.1:c.2556+20_2556+21delinsGC	ENSP00000490799.1:n.2556+20_2556+21delinsGC
ENST00000635776.1:c.2556+20_2556+21delinsGC	ENSP00000490692.1:n.2556+20_2556+21delinsGC
ENST00000636194.1:c.*82+20_*82+21delinsGC	ENSP00000490288.1:n.*82+20_*82+21delinsGC
ENST00000636759.1:c.*2379+20_*2379+21delinsGC	ENSP00000490895.1:n.*2379+20_*2379+21delinsGC
ENST00000637968.1:n.2841+20_2841+21delinsGC
ENST00000637988.1:c.2556+20_2556+21delinsGC	ENSP00000490780.1:n.2556+20_2556+21delinsGC
ENST00000640036.1:c.2556+20_2556+21delinsGC	ENSP00000491573.1:n.2556+20_2556+21delinsGC
ENST00000641575.1:c.2553+20_2553+21delinsGC	ENSP00000492917.1:n.2553+20_2553+21delinsGC
ENST00000641603.1:c.2589+20_2589+21delinsGC	ENSP00000492945.1:n.2589+20_2589+21delinsGC
ENST00000641996.1:c.*2143+20_*2143+21delinsGC	ENSP00000493054.1:n.*2143+20_*2143+21delinsGC
ENST00000671940.1:c.*532+20_*532+21delinsGC	ENSP00000500336.1:n.*532+20_*532+21delinsGC
ENST00000673490.1:n.5062+20_5062+21delinsGC
ENST00000674923.1:c.2589+20_2589+21delinsGC MANE Select	ENSP00000501589.1:n.2589+20_2589+21delinsGC
ENST00000303395.8:c.2589+20_2589+21delinsGC	ENSP00000303540.4:n.2589+20_2589+21delinsGC
ENST00000375405.7:c.2556+20_2556+21delinsGC	ENSP00000364554.3:n.2556+20_2556+21delinsGC
ENST00000409050.1:c.2505+20_2505+21delinsGC	ENSP00000386312.1:n.2505+20_2505+21delinsGC
ENST00000423058.6:c.2589+20_2589+21delinsGC	ENSP00000407030.2:n.2589+20_2589+21delinsGC
NM_001165963.1:c.2589+20_2589+21delinsGC	NP_001159435.1:n.2589+20_2589+21delinsGC
NM_001165964.1:c.2505+20_2505+21delinsGC	NP_001159436.1:n.2505+20_2505+21delinsGC
NM_001202435.1:c.2589+20_2589+21delinsGC	NP_001189364.1:n.2589+20_2589+21delinsGC
NM_006920.4:c.2556+20_2556+21delinsGC , LRG_8t1:c.2556+20_2556+21delinsGC	NP_008851.3:n.2556+20_2556+21delinsGC
XM_011511598.1:c.2589+20_2589+21delinsGC	XP_011509900.1:n.2589+20_2589+21delinsGC
XM_011511599.1:c.2589+20_2589+21delinsGC	XP_011509901.1:n.2589+20_2589+21delinsGC
XM_011511600.1:c.2589+20_2589+21delinsGC	XP_011509902.1:n.2589+20_2589+21delinsGC
XM_011511601.1:c.2589+20_2589+21delinsGC	XP_011509903.1:n.2589+20_2589+21delinsGC
XM_011511602.1:c.2589+20_2589+21delinsGC	XP_011509904.1:n.2589+20_2589+21delinsGC
XM_011511603.1:c.2586+20_2586+21delinsGC	XP_011509905.1:n.2586+20_2586+21delinsGC
XM_011511604.1:c.2556+20_2556+21delinsGC	XP_011509906.1:n.2556+20_2556+21delinsGC
XM_011511605.1:c.2553+20_2553+21delinsGC	XP_011509907.1:n.2553+20_2553+21delinsGC
XM_011511606.1:c.2505+20_2505+21delinsGC	XP_011509908.1:n.2505+20_2505+21delinsGC
XM_011511607.1:c.2589+20_2589+21delinsGC	XP_011509909.1:n.2589+20_2589+21delinsGC
XR_922981.1:n.2773+20_2773+21delinsGC
NM_001165963.2:c.2589+20_2589+21delinsGC	NP_001159435.1:n.2589+20_2589+21delinsGC
NM_001165964.2:c.2505+20_2505+21delinsGC	NP_001159436.1:n.2505+20_2505+21delinsGC
NM_001202435.2:c.2589+20_2589+21delinsGC	NP_001189364.1:n.2589+20_2589+21delinsGC
NM_001353948.1:c.2589+20_2589+21delinsGC	NP_001340877.1:n.2589+20_2589+21delinsGC
NM_001353949.1:c.2556+20_2556+21delinsGC	NP_001340878.1:n.2556+20_2556+21delinsGC
NM_001353950.1:c.2556+20_2556+21delinsGC	NP_001340879.1:n.2556+20_2556+21delinsGC
NM_001353951.1:c.2556+20_2556+21delinsGC	NP_001340880.1:n.2556+20_2556+21delinsGC
NM_001353952.1:c.2556+20_2556+21delinsGC	NP_001340881.1:n.2556+20_2556+21delinsGC
NM_001353954.1:c.2553+20_2553+21delinsGC	NP_001340883.1:n.2553+20_2553+21delinsGC
NM_001353955.1:c.2553+20_2553+21delinsGC	NP_001340884.1:n.2553+20_2553+21delinsGC
NM_001353957.1:c.2505+20_2505+21delinsGC	NP_001340886.1:n.2505+20_2505+21delinsGC
NM_001353958.1:c.2505+20_2505+21delinsGC	NP_001340887.1:n.2505+20_2505+21delinsGC
NM_001353960.1:c.2502+20_2502+21delinsGC	NP_001340889.1:n.2502+20_2502+21delinsGC
NM_001353961.1:c.147+20_147+21delinsGC	NP_001340890.1:n.147+20_147+21delinsGC
NM_006920.5:c.2556+20_2556+21delinsGC	NP_008851.3:n.2556+20_2556+21delinsGC
NR_148667.1:n.2961+20_2961+21delinsGC
XR_001738883.1:n.2975+20_2975+21delinsGC
XR_001738884.1:n.2947+20_2947+21delinsGC
NM_001165963.3:c.2589+20_2589+21delinsGC	NP_001159435.1:n.2589+20_2589+21delinsGC
NM_001165964.3:c.2505+20_2505+21delinsGC	NP_001159436.1:n.2505+20_2505+21delinsGC
NM_001202435.3:c.2589+20_2589+21delinsGC	NP_001189364.1:n.2589+20_2589+21delinsGC
NM_001353948.2:c.2589+20_2589+21delinsGC	NP_001340877.1:n.2589+20_2589+21delinsGC
NM_001353949.2:c.2556+20_2556+21delinsGC	NP_001340878.1:n.2556+20_2556+21delinsGC
NM_001353950.2:c.2556+20_2556+21delinsGC	NP_001340879.1:n.2556+20_2556+21delinsGC
NM_001353951.2:c.2556+20_2556+21delinsGC	NP_001340880.1:n.2556+20_2556+21delinsGC
NM_001353952.2:c.2556+20_2556+21delinsGC	NP_001340881.1:n.2556+20_2556+21delinsGC
NM_001353954.2:c.2553+20_2553+21delinsGC	NP_001340883.1:n.2553+20_2553+21delinsGC
NM_001353955.2:c.2553+20_2553+21delinsGC	NP_001340884.1:n.2553+20_2553+21delinsGC
NM_001353957.2:c.2505+20_2505+21delinsGC	NP_001340886.1:n.2505+20_2505+21delinsGC
NM_001353958.2:c.2505+20_2505+21delinsGC	NP_001340887.1:n.2505+20_2505+21delinsGC
NM_001353960.2:c.2502+20_2502+21delinsGC	NP_001340889.1:n.2502+20_2502+21delinsGC
NM_001353961.2:c.147+20_147+21delinsGC	NP_001340890.1:n.147+20_147+21delinsGC
NM_006920.6:c.2556+20_2556+21delinsGC	NP_008851.3:n.2556+20_2556+21delinsGC
NR_148667.2:n.2942+20_2942+21delinsGC
NM_001165963.4:c.2589+20_2589+21delinsGC MANE Select	NP_001159435.1:n.2589+20_2589+21delinsGC