Canonical Allele Identifier: CA2586970275

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991915del , CM000664.2:g.165991915del	GRCh38
NC_000002.11:g.166848425del , CM000664.1:g.166848425del	GRCh37
NC_000002.10:g.166556671del	NCBI36
NG_011906.1:g.86725del , LRG_8:g.86725del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*3396del	ENSP00000509637.1:n.*3396del
ENST00000303395.9:c.5360del	ENSP00000303540.4:p.Glu1787GlyfsTer14
ENST00000635750.1:c.5327del	ENSP00000490799.1:p.Glu1776GlyfsTer14
ENST00000635776.1:c.*2193del	ENSP00000490692.1:n.*2193del
ENST00000636194.1:c.*2853del	ENSP00000490288.1:n.*2853del
ENST00000637038.1:c.2222del
ENST00000637988.1:c.5327del	ENSP00000490780.1:p.Glu1776GlyfsTer14
ENST00000640036.1:c.5327del	ENSP00000491573.1:p.Glu1776GlyfsTer14
ENST00000641575.1:c.5324del	ENSP00000492917.1:p.Glu1775GlyfsTer14
ENST00000641603.1:c.5078del	ENSP00000492945.1:p.Glu1693GlyfsTer14
ENST00000641996.1:c.*4914del	ENSP00000493054.1:n.*4914del
ENST00000671940.1:c.*3303del	ENSP00000500336.1:n.*3303del
ENST00000673490.1:n.7833del
ENST00000674923.1:c.5360del MANE Select	ENSP00000501589.1:p.Glu1787GlyfsTer14
ENST00000303395.8:c.5360del	ENSP00000303540.4:p.Glu1787GlyfsTer14
ENST00000375405.7:c.5327del	ENSP00000364554.3:p.Glu1776GlyfsTer14
ENST00000409050.1:c.5276del	ENSP00000386312.1:p.Glu1759GlyfsTer14
ENST00000423058.6:c.5360del	ENSP00000407030.2:p.Glu1787GlyfsTer14
NM_001165963.1:c.5360del	NP_001159435.1:p.Glu1787GlyfsTer14
NM_001165964.1:c.5276del	NP_001159436.1:p.Glu1759GlyfsTer14
NM_001202435.1:c.5360del	NP_001189364.1:p.Glu1787GlyfsTer14
NM_006920.4:c.5327del , LRG_8t1:c.5327del	NP_008851.3:p.Glu1776GlyfsTer14
NR_110598.1:n.176-23698del
XM_011511598.1:c.5360del	XP_011509900.1:p.Glu1787GlyfsTer14
XM_011511599.1:c.5360del	XP_011509901.1:p.Glu1787GlyfsTer14
XM_011511600.1:c.5360del	XP_011509902.1:p.Glu1787GlyfsTer14
XM_011511601.1:c.5360del	XP_011509903.1:p.Glu1787GlyfsTer14
XM_011511602.1:c.5360del	XP_011509904.1:p.Glu1787GlyfsTer14
XM_011511603.1:c.5357del	XP_011509905.1:p.Glu1786GlyfsTer14
XM_011511604.1:c.5327del	XP_011509906.1:p.Glu1776GlyfsTer14
XM_011511605.1:c.5324del	XP_011509907.1:p.Glu1775GlyfsTer14
XM_011511606.1:c.5276del	XP_011509908.1:p.Glu1759GlyfsTer14
XM_011511607.1:c.5078del	XP_011509909.1:p.Glu1693GlyfsTer14
NM_001165963.2:c.5360del	NP_001159435.1:p.Glu1787GlyfsTer14
NM_001165964.2:c.5276del	NP_001159436.1:p.Glu1759GlyfsTer14
NM_001202435.2:c.5360del	NP_001189364.1:p.Glu1787GlyfsTer14
NM_001353948.1:c.5360del	NP_001340877.1:p.Glu1787GlyfsTer14
NM_001353949.1:c.5327del	NP_001340878.1:p.Glu1776GlyfsTer14
NM_001353950.1:c.5327del	NP_001340879.1:p.Glu1776GlyfsTer14
NM_001353951.1:c.5327del	NP_001340880.1:p.Glu1776GlyfsTer14
NM_001353952.1:c.5327del	NP_001340881.1:p.Glu1776GlyfsTer14
NM_001353954.1:c.5324del	NP_001340883.1:p.Glu1775GlyfsTer14
NM_001353955.1:c.5324del	NP_001340884.1:p.Glu1775GlyfsTer14
NM_001353957.1:c.5276del	NP_001340886.1:p.Glu1759GlyfsTer14
NM_001353958.1:c.5276del	NP_001340887.1:p.Glu1759GlyfsTer14
NM_001353960.1:c.5273del	NP_001340889.1:p.Glu1758GlyfsTer14
NM_001353961.1:c.2918del	NP_001340890.1:p.Glu973GlyfsTer14
NM_006920.5:c.5327del	NP_008851.3:p.Glu1776GlyfsTer14
NR_148667.1:n.5796del
XR_001738883.1:n.5810del
XR_001738884.1:n.5782del
NM_001165963.3:c.5360del	NP_001159435.1:p.Glu1787GlyfsTer14
NM_001165964.3:c.5276del	NP_001159436.1:p.Glu1759GlyfsTer14
NM_001202435.3:c.5360del	NP_001189364.1:p.Glu1787GlyfsTer14
NM_001353948.2:c.5360del	NP_001340877.1:p.Glu1787GlyfsTer14
NM_001353949.2:c.5327del	NP_001340878.1:p.Glu1776GlyfsTer14
NM_001353950.2:c.5327del	NP_001340879.1:p.Glu1776GlyfsTer14
NM_001353951.2:c.5327del	NP_001340880.1:p.Glu1776GlyfsTer14
NM_001353952.2:c.5327del	NP_001340881.1:p.Glu1776GlyfsTer14
NM_001353954.2:c.5324del	NP_001340883.1:p.Glu1775GlyfsTer14
NM_001353955.2:c.5324del	NP_001340884.1:p.Glu1775GlyfsTer14
NM_001353957.2:c.5276del	NP_001340886.1:p.Glu1759GlyfsTer14
NM_001353958.2:c.5276del	NP_001340887.1:p.Glu1759GlyfsTer14
NM_001353960.2:c.5273del	NP_001340889.1:p.Glu1758GlyfsTer14
NM_001353961.2:c.2918del	NP_001340890.1:p.Glu973GlyfsTer14
NM_006920.6:c.5327del	NP_008851.3:p.Glu1776GlyfsTer14
NR_148667.2:n.5777del
NM_001165963.4:c.5360del MANE Select	NP_001159435.1:p.Glu1787GlyfsTer14