Canonical Allele Identifier: CA1304847304

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166009775_166009777delinsTGA , CM000664.2:g.166009775_166009777delinsTGA	GRCh38
NC_000002.11:g.166866285_166866287delinsTGA , CM000664.1:g.166866285_166866287delinsTGA	GRCh37
NC_000002.10:g.166574531_166574533delinsTGA	NCBI36
NG_011906.1:g.68863_68865delinsTCA , LRG_8:g.68863_68865delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*1980_*1982delinsTCA	ENSP00000509637.1:n.*1980_*1982delinsTCA
ENST00000303395.9:c.3944_3946delinsTCA	ENSP00000303540.4:p.Leu1315=
ENST00000635750.1:c.3911_3913delinsTCA	ENSP00000490799.1:p.Leu1304=
ENST00000635776.1:c.3911_3913delinsTCA	ENSP00000490692.1:p.Leu1304=
ENST00000636194.1:c.*1437_*1439delinsTCA	ENSP00000490288.1:n.*1437_*1439delinsTCA
ENST00000637038.1:c.742_744delinsTCA
ENST00000637968.1:n.4196_4198delinsTCA
ENST00000637988.1:c.3911_3913delinsTCA	ENSP00000490780.1:p.Leu1304=
ENST00000640036.1:c.3911_3913delinsTCA	ENSP00000491573.1:p.Leu1304=
ENST00000641575.1:c.3908_3910delinsTCA	ENSP00000492917.1:p.Leu1303=
ENST00000641603.1:c.3944_3946delinsTCA	ENSP00000492945.1:p.Leu1315=
ENST00000641996.1:c.*3498_*3500delinsTCA	ENSP00000493054.1:n.*3498_*3500delinsTCA
ENST00000671940.1:c.*1887_*1889delinsTCA	ENSP00000500336.1:n.*1887_*1889delinsTCA
ENST00000673490.1:n.6417_6419delinsTCA
ENST00000674923.1:c.3944_3946delinsTCA MANE Select	ENSP00000501589.1:p.Leu1315=
ENST00000303395.8:c.3944_3946delinsTCA	ENSP00000303540.4:p.Leu1315=
ENST00000375405.7:c.3911_3913delinsTCA	ENSP00000364554.3:p.Leu1304=
ENST00000409050.1:c.3860_3862delinsTCA	ENSP00000386312.1:p.Leu1287=
ENST00000423058.6:c.3944_3946delinsTCA	ENSP00000407030.2:p.Leu1315=
NM_001165963.1:c.3944_3946delinsTCA	NP_001159435.1:p.Leu1315=
NM_001165964.1:c.3860_3862delinsTCA	NP_001159436.1:p.Leu1287=
NM_001202435.1:c.3944_3946delinsTCA	NP_001189364.1:p.Leu1315=
NM_006920.4:c.3911_3913delinsTCA , LRG_8t1:c.3911_3913delinsTCA	NP_008851.3:p.Leu1304=
NR_110598.1:n.176-5838_176-5836delinsTGA
XM_011511598.1:c.3944_3946delinsTCA	XP_011509900.1:p.Leu1315=
XM_011511599.1:c.3944_3946delinsTCA	XP_011509901.1:p.Leu1315=
XM_011511600.1:c.3944_3946delinsTCA	XP_011509902.1:p.Leu1315=
XM_011511601.1:c.3944_3946delinsTCA	XP_011509903.1:p.Leu1315=
XM_011511602.1:c.3944_3946delinsTCA	XP_011509904.1:p.Leu1315=
XM_011511603.1:c.3941_3943delinsTCA	XP_011509905.1:p.Leu1314=
XM_011511604.1:c.3911_3913delinsTCA	XP_011509906.1:p.Leu1304=
XM_011511605.1:c.3908_3910delinsTCA	XP_011509907.1:p.Leu1303=
XM_011511606.1:c.3860_3862delinsTCA	XP_011509908.1:p.Leu1287=
XM_011511607.1:c.3944_3946delinsTCA	XP_011509909.1:p.Leu1315=
XR_922981.1:n.4128_4130delinsTCA
NM_001165963.2:c.3944_3946delinsTCA	NP_001159435.1:p.Leu1315=
NM_001165964.2:c.3860_3862delinsTCA	NP_001159436.1:p.Leu1287=
NM_001202435.2:c.3944_3946delinsTCA	NP_001189364.1:p.Leu1315=
NM_001353948.1:c.3944_3946delinsTCA	NP_001340877.1:p.Leu1315=
NM_001353949.1:c.3911_3913delinsTCA	NP_001340878.1:p.Leu1304=
NM_001353950.1:c.3911_3913delinsTCA	NP_001340879.1:p.Leu1304=
NM_001353951.1:c.3911_3913delinsTCA	NP_001340880.1:p.Leu1304=
NM_001353952.1:c.3911_3913delinsTCA	NP_001340881.1:p.Leu1304=
NM_001353954.1:c.3908_3910delinsTCA	NP_001340883.1:p.Leu1303=
NM_001353955.1:c.3908_3910delinsTCA	NP_001340884.1:p.Leu1303=
NM_001353957.1:c.3860_3862delinsTCA	NP_001340886.1:p.Leu1287=
NM_001353958.1:c.3860_3862delinsTCA	NP_001340887.1:p.Leu1287=
NM_001353960.1:c.3857_3859delinsTCA	NP_001340889.1:p.Leu1286=
NM_001353961.1:c.1502_1504delinsTCA	NP_001340890.1:p.Leu501=
NM_006920.5:c.3911_3913delinsTCA	NP_008851.3:p.Leu1304=
NR_148667.1:n.4316_4318delinsTCA
XR_001738883.1:n.4330_4332delinsTCA
XR_001738884.1:n.4302_4304delinsTCA
NM_001165963.3:c.3944_3946delinsTCA	NP_001159435.1:p.Leu1315=
NM_001165964.3:c.3860_3862delinsTCA	NP_001159436.1:p.Leu1287=
NM_001202435.3:c.3944_3946delinsTCA	NP_001189364.1:p.Leu1315=
NM_001353948.2:c.3944_3946delinsTCA	NP_001340877.1:p.Leu1315=
NM_001353949.2:c.3911_3913delinsTCA	NP_001340878.1:p.Leu1304=
NM_001353950.2:c.3911_3913delinsTCA	NP_001340879.1:p.Leu1304=
NM_001353951.2:c.3911_3913delinsTCA	NP_001340880.1:p.Leu1304=
NM_001353952.2:c.3911_3913delinsTCA	NP_001340881.1:p.Leu1304=
NM_001353954.2:c.3908_3910delinsTCA	NP_001340883.1:p.Leu1303=
NM_001353955.2:c.3908_3910delinsTCA	NP_001340884.1:p.Leu1303=
NM_001353957.2:c.3860_3862delinsTCA	NP_001340886.1:p.Leu1287=
NM_001353958.2:c.3860_3862delinsTCA	NP_001340887.1:p.Leu1287=
NM_001353960.2:c.3857_3859delinsTCA	NP_001340889.1:p.Leu1286=
NM_001353961.2:c.1502_1504delinsTCA	NP_001340890.1:p.Leu501=
NM_006920.6:c.3911_3913delinsTCA	NP_008851.3:p.Leu1304=
NR_148667.2:n.4297_4299delinsTCA
NM_001165963.4:c.3944_3946delinsTCA MANE Select	NP_001159435.1:p.Leu1315=