Canonical Allele Identifier: CA1304844790

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166015724_166015726delinsGTT , CM000664.2:g.166015724_166015726delinsGTT	GRCh38
NC_000002.11:g.166872234_166872236delinsGTT , CM000664.1:g.166872234_166872236delinsGTT	GRCh37
NC_000002.10:g.166580480_166580482delinsGTT	NCBI36
NG_011906.1:g.62914_62916delinsAAC , LRG_8:g.62914_62916delinsAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*1467_*1469delinsAAC	ENSP00000509637.1:n.*1467_*1469delinsAAC
ENST00000303395.9:c.3431_3433delinsAAC	ENSP00000303540.4:p.Lys1144=
ENST00000635750.1:c.3398_3400delinsAAC	ENSP00000490799.1:p.Lys1133=
ENST00000635776.1:c.3398_3400delinsAAC	ENSP00000490692.1:p.Lys1133=
ENST00000636194.1:c.*924_*926delinsAAC	ENSP00000490288.1:n.*924_*926delinsAAC
ENST00000637038.1:c.229_231delinsAAC
ENST00000637968.1:n.3683_3685delinsAAC
ENST00000637988.1:c.3398_3400delinsAAC	ENSP00000490780.1:p.Lys1133=
ENST00000640036.1:c.3398_3400delinsAAC	ENSP00000491573.1:p.Lys1133=
ENST00000641575.1:c.3395_3397delinsAAC	ENSP00000492917.1:p.Lys1132=
ENST00000641603.1:c.3431_3433delinsAAC	ENSP00000492945.1:p.Lys1144=
ENST00000641996.1:c.*2985_*2987delinsAAC	ENSP00000493054.1:n.*2985_*2987delinsAAC
ENST00000671940.1:c.*1374_*1376delinsAAC	ENSP00000500336.1:n.*1374_*1376delinsAAC
ENST00000673490.1:n.5904_5906delinsAAC
ENST00000674923.1:c.3431_3433delinsAAC MANE Select	ENSP00000501589.1:p.Lys1144=
ENST00000303395.8:c.3431_3433delinsAAC	ENSP00000303540.4:p.Lys1144=
ENST00000375405.7:c.3398_3400delinsAAC	ENSP00000364554.3:p.Lys1133=
ENST00000409050.1:c.3347_3349delinsAAC	ENSP00000386312.1:p.Lys1116=
ENST00000423058.6:c.3431_3433delinsAAC	ENSP00000407030.2:p.Lys1144=
NM_001165963.1:c.3431_3433delinsAAC	NP_001159435.1:p.Lys1144=
NM_001165964.1:c.3347_3349delinsAAC	NP_001159436.1:p.Lys1116=
NM_001202435.1:c.3431_3433delinsAAC	NP_001189364.1:p.Lys1144=
NM_006920.4:c.3398_3400delinsAAC , LRG_8t1:c.3398_3400delinsAAC	NP_008851.3:p.Lys1133=
NR_110598.1:n.287_289delinsGTT
XM_011511598.1:c.3431_3433delinsAAC	XP_011509900.1:p.Lys1144=
XM_011511599.1:c.3431_3433delinsAAC	XP_011509901.1:p.Lys1144=
XM_011511600.1:c.3431_3433delinsAAC	XP_011509902.1:p.Lys1144=
XM_011511601.1:c.3431_3433delinsAAC	XP_011509903.1:p.Lys1144=
XM_011511602.1:c.3431_3433delinsAAC	XP_011509904.1:p.Lys1144=
XM_011511603.1:c.3428_3430delinsAAC	XP_011509905.1:p.Lys1143=
XM_011511604.1:c.3398_3400delinsAAC	XP_011509906.1:p.Lys1133=
XM_011511605.1:c.3395_3397delinsAAC	XP_011509907.1:p.Lys1132=
XM_011511606.1:c.3347_3349delinsAAC	XP_011509908.1:p.Lys1116=
XM_011511607.1:c.3431_3433delinsAAC	XP_011509909.1:p.Lys1144=
XR_922981.1:n.3615_3617delinsAAC
NM_001165963.2:c.3431_3433delinsAAC	NP_001159435.1:p.Lys1144=
NM_001165964.2:c.3347_3349delinsAAC	NP_001159436.1:p.Lys1116=
NM_001202435.2:c.3431_3433delinsAAC	NP_001189364.1:p.Lys1144=
NM_001353948.1:c.3431_3433delinsAAC	NP_001340877.1:p.Lys1144=
NM_001353949.1:c.3398_3400delinsAAC	NP_001340878.1:p.Lys1133=
NM_001353950.1:c.3398_3400delinsAAC	NP_001340879.1:p.Lys1133=
NM_001353951.1:c.3398_3400delinsAAC	NP_001340880.1:p.Lys1133=
NM_001353952.1:c.3398_3400delinsAAC	NP_001340881.1:p.Lys1133=
NM_001353954.1:c.3395_3397delinsAAC	NP_001340883.1:p.Lys1132=
NM_001353955.1:c.3395_3397delinsAAC	NP_001340884.1:p.Lys1132=
NM_001353957.1:c.3347_3349delinsAAC	NP_001340886.1:p.Lys1116=
NM_001353958.1:c.3347_3349delinsAAC	NP_001340887.1:p.Lys1116=
NM_001353960.1:c.3344_3346delinsAAC	NP_001340889.1:p.Lys1115=
NM_001353961.1:c.989_991delinsAAC	NP_001340890.1:p.Lys330=
NM_006920.5:c.3398_3400delinsAAC	NP_008851.3:p.Lys1133=
NR_148667.1:n.3803_3805delinsAAC
XR_001738883.1:n.3817_3819delinsAAC
XR_001738884.1:n.3789_3791delinsAAC
NM_001165963.3:c.3431_3433delinsAAC	NP_001159435.1:p.Lys1144=
NM_001165964.3:c.3347_3349delinsAAC	NP_001159436.1:p.Lys1116=
NM_001202435.3:c.3431_3433delinsAAC	NP_001189364.1:p.Lys1144=
NM_001353948.2:c.3431_3433delinsAAC	NP_001340877.1:p.Lys1144=
NM_001353949.2:c.3398_3400delinsAAC	NP_001340878.1:p.Lys1133=
NM_001353950.2:c.3398_3400delinsAAC	NP_001340879.1:p.Lys1133=
NM_001353951.2:c.3398_3400delinsAAC	NP_001340880.1:p.Lys1133=
NM_001353952.2:c.3398_3400delinsAAC	NP_001340881.1:p.Lys1133=
NM_001353954.2:c.3395_3397delinsAAC	NP_001340883.1:p.Lys1132=
NM_001353955.2:c.3395_3397delinsAAC	NP_001340884.1:p.Lys1132=
NM_001353957.2:c.3347_3349delinsAAC	NP_001340886.1:p.Lys1116=
NM_001353958.2:c.3347_3349delinsAAC	NP_001340887.1:p.Lys1116=
NM_001353960.2:c.3344_3346delinsAAC	NP_001340889.1:p.Lys1115=
NM_001353961.2:c.989_991delinsAAC	NP_001340890.1:p.Lys330=
NM_006920.6:c.3398_3400delinsAAC	NP_008851.3:p.Lys1133=
NR_148667.2:n.3784_3786delinsAAC
NM_001165963.4:c.3431_3433delinsAAC MANE Select	NP_001159435.1:p.Lys1144=