Canonical Allele Identifier: CA2577144081

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991280del , CM000664.2:g.165991280del	GRCh38
NC_000002.11:g.166847790del , CM000664.1:g.166847790del	GRCh37
NC_000002.10:g.166556036del	NCBI36
NG_011906.1:g.87360del , LRG_8:g.87360del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*4031del	ENSP00000509637.1:n.*4031del
ENST00000303395.9:c.5995del	ENSP00000303540.4:p.Gln1999LysfsTer13
ENST00000635750.1:c.5962del	ENSP00000490799.1:p.Gln1988LysfsTer13
ENST00000635776.1:c.*2828del	ENSP00000490692.1:n.*2828del
ENST00000636194.1:c.*3488del	ENSP00000490288.1:n.*3488del
ENST00000637038.1:c.2857del
ENST00000637988.1:c.5962del	ENSP00000490780.1:p.Gln1988LysfsTer13
ENST00000640036.1:c.5962del	ENSP00000491573.1:p.Gln1988LysfsTer13
ENST00000641575.1:c.5959del	ENSP00000492917.1:p.Gln1987LysfsTer13
ENST00000641603.1:c.5713del	ENSP00000492945.1:p.Gln1905LysfsTer13
ENST00000641996.1:c.*5549del	ENSP00000493054.1:n.*5549del
ENST00000671940.1:c.*3938del	ENSP00000500336.1:n.*3938del
ENST00000673490.1:n.8468del
ENST00000674923.1:c.5995del MANE Select	ENSP00000501589.1:p.Gln1999LysfsTer13
ENST00000303395.8:c.5995del	ENSP00000303540.4:p.Gln1999LysfsTer13
ENST00000375405.7:c.5962del	ENSP00000364554.3:p.Gln1988LysfsTer13
ENST00000409050.1:c.5911del	ENSP00000386312.1:p.Gln1971LysfsTer?
ENST00000423058.6:c.5995del	ENSP00000407030.2:p.Gln1999LysfsTer13
NM_001165963.1:c.5995del	NP_001159435.1:p.Gln1999LysfsTer13
NM_001165964.1:c.5911del	NP_001159436.1:p.Gln1971LysfsTer13
NM_001202435.1:c.5995del	NP_001189364.1:p.Gln1999LysfsTer13
NM_006920.4:c.5962del , LRG_8t1:c.5962del	NP_008851.3:p.Gln1988LysfsTer13
NR_110598.1:n.176-24333del
XM_011511598.1:c.5995del	XP_011509900.1:p.Gln1999LysfsTer13
XM_011511599.1:c.5995del	XP_011509901.1:p.Gln1999LysfsTer13
XM_011511600.1:c.5995del	XP_011509902.1:p.Gln1999LysfsTer13
XM_011511601.1:c.5995del	XP_011509903.1:p.Gln1999LysfsTer13
XM_011511602.1:c.5995del	XP_011509904.1:p.Gln1999LysfsTer13
XM_011511603.1:c.5992del	XP_011509905.1:p.Gln1998LysfsTer13
XM_011511604.1:c.5962del	XP_011509906.1:p.Gln1988LysfsTer13
XM_011511605.1:c.5959del	XP_011509907.1:p.Gln1987LysfsTer13
XM_011511606.1:c.5911del	XP_011509908.1:p.Gln1971LysfsTer13
XM_011511607.1:c.5713del	XP_011509909.1:p.Gln1905LysfsTer13
NM_001165963.2:c.5995del	NP_001159435.1:p.Gln1999LysfsTer13
NM_001165964.2:c.5911del	NP_001159436.1:p.Gln1971LysfsTer13
NM_001202435.2:c.5995del	NP_001189364.1:p.Gln1999LysfsTer13
NM_001353948.1:c.5995del	NP_001340877.1:p.Gln1999LysfsTer13
NM_001353949.1:c.5962del	NP_001340878.1:p.Gln1988LysfsTer13
NM_001353950.1:c.5962del	NP_001340879.1:p.Gln1988LysfsTer13
NM_001353951.1:c.5962del	NP_001340880.1:p.Gln1988LysfsTer13
NM_001353952.1:c.5962del	NP_001340881.1:p.Gln1988LysfsTer13
NM_001353954.1:c.5959del	NP_001340883.1:p.Gln1987LysfsTer13
NM_001353955.1:c.5959del	NP_001340884.1:p.Gln1987LysfsTer13
NM_001353957.1:c.5911del	NP_001340886.1:p.Gln1971LysfsTer13
NM_001353958.1:c.5911del	NP_001340887.1:p.Gln1971LysfsTer13
NM_001353960.1:c.5908del	NP_001340889.1:p.Gln1970LysfsTer13
NM_001353961.1:c.3553del	NP_001340890.1:p.Gln1185LysfsTer13
NM_006920.5:c.5962del	NP_008851.3:p.Gln1988LysfsTer13
NR_148667.1:n.6431del
XR_001738883.1:n.6445del
XR_001738884.1:n.6417del
NM_001165963.3:c.5995del	NP_001159435.1:p.Gln1999LysfsTer13
NM_001165964.3:c.5911del	NP_001159436.1:p.Gln1971LysfsTer13
NM_001202435.3:c.5995del	NP_001189364.1:p.Gln1999LysfsTer13
NM_001353948.2:c.5995del	NP_001340877.1:p.Gln1999LysfsTer13
NM_001353949.2:c.5962del	NP_001340878.1:p.Gln1988LysfsTer13
NM_001353950.2:c.5962del	NP_001340879.1:p.Gln1988LysfsTer13
NM_001353951.2:c.5962del	NP_001340880.1:p.Gln1988LysfsTer13
NM_001353952.2:c.5962del	NP_001340881.1:p.Gln1988LysfsTer13
NM_001353954.2:c.5959del	NP_001340883.1:p.Gln1987LysfsTer13
NM_001353955.2:c.5959del	NP_001340884.1:p.Gln1987LysfsTer13
NM_001353957.2:c.5911del	NP_001340886.1:p.Gln1971LysfsTer13
NM_001353958.2:c.5911del	NP_001340887.1:p.Gln1971LysfsTer13
NM_001353960.2:c.5908del	NP_001340889.1:p.Gln1970LysfsTer13
NM_001353961.2:c.3553del	NP_001340890.1:p.Gln1185LysfsTer13
NM_006920.6:c.5962del	NP_008851.3:p.Gln1988LysfsTer13
NR_148667.2:n.6412del
NM_001165963.4:c.5995del MANE Select	NP_001159435.1:p.Gln1999LysfsTer13