Canonical Allele Identifier: CA1304837416

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991875_165991876delinsCA , CM000664.2:g.165991875_165991876delinsCA	GRCh38
NC_000002.11:g.166848385_166848386delinsCA , CM000664.1:g.166848385_166848386delinsCA	GRCh37
NC_000002.10:g.166556631_166556632delinsCA	NCBI36
NG_011906.1:g.86764_86765delinsTG , LRG_8:g.86764_86765delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*3435_*3436delinsTG	ENSP00000509637.1:n.*3435_*3436delinsTG
ENST00000303395.9:c.5399_5400delinsTG	ENSP00000303540.4:p.Leu1800=
ENST00000635750.1:c.5366_5367delinsTG	ENSP00000490799.1:p.Leu1789=
ENST00000635776.1:c.*2232_*2233delinsTG	ENSP00000490692.1:n.*2232_*2233delinsTG
ENST00000636194.1:c.*2892_*2893delinsTG	ENSP00000490288.1:n.*2892_*2893delinsTG
ENST00000637038.1:c.2261_2262delinsTG
ENST00000637988.1:c.5366_5367delinsTG	ENSP00000490780.1:p.Leu1789=
ENST00000640036.1:c.5366_5367delinsTG	ENSP00000491573.1:p.Leu1789=
ENST00000641575.1:c.5363_5364delinsTG	ENSP00000492917.1:p.Leu1788=
ENST00000641603.1:c.5117_5118delinsTG	ENSP00000492945.1:p.Leu1706=
ENST00000641996.1:c.*4953_*4954delinsTG	ENSP00000493054.1:n.*4953_*4954delinsTG
ENST00000671940.1:c.*3342_*3343delinsTG	ENSP00000500336.1:n.*3342_*3343delinsTG
ENST00000673490.1:n.7872_7873delinsTG
ENST00000674923.1:c.5399_5400delinsTG MANE Select	ENSP00000501589.1:p.Leu1800=
ENST00000303395.8:c.5399_5400delinsTG	ENSP00000303540.4:p.Leu1800=
ENST00000375405.7:c.5366_5367delinsTG	ENSP00000364554.3:p.Leu1789=
ENST00000409050.1:c.5315_5316delinsTG	ENSP00000386312.1:p.Leu1772=
ENST00000423058.6:c.5399_5400delinsTG	ENSP00000407030.2:p.Leu1800=
NM_001165963.1:c.5399_5400delinsTG	NP_001159435.1:p.Leu1800=
NM_001165964.1:c.5315_5316delinsTG	NP_001159436.1:p.Leu1772=
NM_001202435.1:c.5399_5400delinsTG	NP_001189364.1:p.Leu1800=
NM_006920.4:c.5366_5367delinsTG , LRG_8t1:c.5366_5367delinsTG	NP_008851.3:p.Leu1789=
NR_110598.1:n.176-23738_176-23737delinsCA
XM_011511598.1:c.5399_5400delinsTG	XP_011509900.1:p.Leu1800=
XM_011511599.1:c.5399_5400delinsTG	XP_011509901.1:p.Leu1800=
XM_011511600.1:c.5399_5400delinsTG	XP_011509902.1:p.Leu1800=
XM_011511601.1:c.5399_5400delinsTG	XP_011509903.1:p.Leu1800=
XM_011511602.1:c.5399_5400delinsTG	XP_011509904.1:p.Leu1800=
XM_011511603.1:c.5396_5397delinsTG	XP_011509905.1:p.Leu1799=
XM_011511604.1:c.5366_5367delinsTG	XP_011509906.1:p.Leu1789=
XM_011511605.1:c.5363_5364delinsTG	XP_011509907.1:p.Leu1788=
XM_011511606.1:c.5315_5316delinsTG	XP_011509908.1:p.Leu1772=
XM_011511607.1:c.5117_5118delinsTG	XP_011509909.1:p.Leu1706=
NM_001165963.2:c.5399_5400delinsTG	NP_001159435.1:p.Leu1800=
NM_001165964.2:c.5315_5316delinsTG	NP_001159436.1:p.Leu1772=
NM_001202435.2:c.5399_5400delinsTG	NP_001189364.1:p.Leu1800=
NM_001353948.1:c.5399_5400delinsTG	NP_001340877.1:p.Leu1800=
NM_001353949.1:c.5366_5367delinsTG	NP_001340878.1:p.Leu1789=
NM_001353950.1:c.5366_5367delinsTG	NP_001340879.1:p.Leu1789=
NM_001353951.1:c.5366_5367delinsTG	NP_001340880.1:p.Leu1789=
NM_001353952.1:c.5366_5367delinsTG	NP_001340881.1:p.Leu1789=
NM_001353954.1:c.5363_5364delinsTG	NP_001340883.1:p.Leu1788=
NM_001353955.1:c.5363_5364delinsTG	NP_001340884.1:p.Leu1788=
NM_001353957.1:c.5315_5316delinsTG	NP_001340886.1:p.Leu1772=
NM_001353958.1:c.5315_5316delinsTG	NP_001340887.1:p.Leu1772=
NM_001353960.1:c.5312_5313delinsTG	NP_001340889.1:p.Leu1771=
NM_001353961.1:c.2957_2958delinsTG	NP_001340890.1:p.Leu986=
NM_006920.5:c.5366_5367delinsTG	NP_008851.3:p.Leu1789=
NR_148667.1:n.5835_5836delinsTG
XR_001738883.1:n.5849_5850delinsTG
XR_001738884.1:n.5821_5822delinsTG
NM_001165963.3:c.5399_5400delinsTG	NP_001159435.1:p.Leu1800=
NM_001165964.3:c.5315_5316delinsTG	NP_001159436.1:p.Leu1772=
NM_001202435.3:c.5399_5400delinsTG	NP_001189364.1:p.Leu1800=
NM_001353948.2:c.5399_5400delinsTG	NP_001340877.1:p.Leu1800=
NM_001353949.2:c.5366_5367delinsTG	NP_001340878.1:p.Leu1789=
NM_001353950.2:c.5366_5367delinsTG	NP_001340879.1:p.Leu1789=
NM_001353951.2:c.5366_5367delinsTG	NP_001340880.1:p.Leu1789=
NM_001353952.2:c.5366_5367delinsTG	NP_001340881.1:p.Leu1789=
NM_001353954.2:c.5363_5364delinsTG	NP_001340883.1:p.Leu1788=
NM_001353955.2:c.5363_5364delinsTG	NP_001340884.1:p.Leu1788=
NM_001353957.2:c.5315_5316delinsTG	NP_001340886.1:p.Leu1772=
NM_001353958.2:c.5315_5316delinsTG	NP_001340887.1:p.Leu1772=
NM_001353960.2:c.5312_5313delinsTG	NP_001340889.1:p.Leu1771=
NM_001353961.2:c.2957_2958delinsTG	NP_001340890.1:p.Leu986=
NM_006920.6:c.5366_5367delinsTG	NP_008851.3:p.Leu1789=
NR_148667.2:n.5816_5817delinsTG
NM_001165963.4:c.5399_5400delinsTG MANE Select	NP_001159435.1:p.Leu1800=