Canonical Allele Identifier: CA1304837708

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991975_165991976delinsAC , CM000664.2:g.165991975_165991976delinsAC	GRCh38
NC_000002.11:g.166848485_166848486delinsAC , CM000664.1:g.166848485_166848486delinsAC	GRCh37
NC_000002.10:g.166556731_166556732delinsAC	NCBI36
NG_011906.1:g.86664_86665delinsGT , LRG_8:g.86664_86665delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*3335_*3336delinsGT	ENSP00000509637.1:n.*3335_*3336delinsGT
ENST00000303395.9:c.5299_5300delinsGT	ENSP00000303540.4:p.Val1767=
ENST00000635750.1:c.5266_5267delinsGT	ENSP00000490799.1:p.Val1756=
ENST00000635776.1:c.*2132_*2133delinsGT	ENSP00000490692.1:n.*2132_*2133delinsGT
ENST00000636194.1:c.*2792_*2793delinsGT	ENSP00000490288.1:n.*2792_*2793delinsGT
ENST00000637038.1:c.2161_2162delinsGT
ENST00000637988.1:c.5266_5267delinsGT	ENSP00000490780.1:p.Val1756=
ENST00000640036.1:c.5266_5267delinsGT	ENSP00000491573.1:p.Val1756=
ENST00000641575.1:c.5263_5264delinsGT	ENSP00000492917.1:p.Val1755=
ENST00000641603.1:c.5017_5018delinsGT	ENSP00000492945.1:p.Val1673=
ENST00000641996.1:c.*4853_*4854delinsGT	ENSP00000493054.1:n.*4853_*4854delinsGT
ENST00000671940.1:c.*3242_*3243delinsGT	ENSP00000500336.1:n.*3242_*3243delinsGT
ENST00000673490.1:n.7772_7773delinsGT
ENST00000674923.1:c.5299_5300delinsGT MANE Select	ENSP00000501589.1:p.Val1767=
ENST00000303395.8:c.5299_5300delinsGT	ENSP00000303540.4:p.Val1767=
ENST00000375405.7:c.5266_5267delinsGT	ENSP00000364554.3:p.Val1756=
ENST00000409050.1:c.5215_5216delinsGT	ENSP00000386312.1:p.Val1739=
ENST00000423058.6:c.5299_5300delinsGT	ENSP00000407030.2:p.Val1767=
NM_001165963.1:c.5299_5300delinsGT	NP_001159435.1:p.Val1767=
NM_001165964.1:c.5215_5216delinsGT	NP_001159436.1:p.Val1739=
NM_001202435.1:c.5299_5300delinsGT	NP_001189364.1:p.Val1767=
NM_006920.4:c.5266_5267delinsGT , LRG_8t1:c.5266_5267delinsGT	NP_008851.3:p.Val1756=
NR_110598.1:n.176-23638_176-23637delinsAC
XM_011511598.1:c.5299_5300delinsGT	XP_011509900.1:p.Val1767=
XM_011511599.1:c.5299_5300delinsGT	XP_011509901.1:p.Val1767=
XM_011511600.1:c.5299_5300delinsGT	XP_011509902.1:p.Val1767=
XM_011511601.1:c.5299_5300delinsGT	XP_011509903.1:p.Val1767=
XM_011511602.1:c.5299_5300delinsGT	XP_011509904.1:p.Val1767=
XM_011511603.1:c.5296_5297delinsGT	XP_011509905.1:p.Val1766=
XM_011511604.1:c.5266_5267delinsGT	XP_011509906.1:p.Val1756=
XM_011511605.1:c.5263_5264delinsGT	XP_011509907.1:p.Val1755=
XM_011511606.1:c.5215_5216delinsGT	XP_011509908.1:p.Val1739=
XM_011511607.1:c.5017_5018delinsGT	XP_011509909.1:p.Val1673=
NM_001165963.2:c.5299_5300delinsGT	NP_001159435.1:p.Val1767=
NM_001165964.2:c.5215_5216delinsGT	NP_001159436.1:p.Val1739=
NM_001202435.2:c.5299_5300delinsGT	NP_001189364.1:p.Val1767=
NM_001353948.1:c.5299_5300delinsGT	NP_001340877.1:p.Val1767=
NM_001353949.1:c.5266_5267delinsGT	NP_001340878.1:p.Val1756=
NM_001353950.1:c.5266_5267delinsGT	NP_001340879.1:p.Val1756=
NM_001353951.1:c.5266_5267delinsGT	NP_001340880.1:p.Val1756=
NM_001353952.1:c.5266_5267delinsGT	NP_001340881.1:p.Val1756=
NM_001353954.1:c.5263_5264delinsGT	NP_001340883.1:p.Val1755=
NM_001353955.1:c.5263_5264delinsGT	NP_001340884.1:p.Val1755=
NM_001353957.1:c.5215_5216delinsGT	NP_001340886.1:p.Val1739=
NM_001353958.1:c.5215_5216delinsGT	NP_001340887.1:p.Val1739=
NM_001353960.1:c.5212_5213delinsGT	NP_001340889.1:p.Val1738=
NM_001353961.1:c.2857_2858delinsGT	NP_001340890.1:p.Val953=
NM_006920.5:c.5266_5267delinsGT	NP_008851.3:p.Val1756=
NR_148667.1:n.5735_5736delinsGT
XR_001738883.1:n.5749_5750delinsGT
XR_001738884.1:n.5721_5722delinsGT
NM_001165963.3:c.5299_5300delinsGT	NP_001159435.1:p.Val1767=
NM_001165964.3:c.5215_5216delinsGT	NP_001159436.1:p.Val1739=
NM_001202435.3:c.5299_5300delinsGT	NP_001189364.1:p.Val1767=
NM_001353948.2:c.5299_5300delinsGT	NP_001340877.1:p.Val1767=
NM_001353949.2:c.5266_5267delinsGT	NP_001340878.1:p.Val1756=
NM_001353950.2:c.5266_5267delinsGT	NP_001340879.1:p.Val1756=
NM_001353951.2:c.5266_5267delinsGT	NP_001340880.1:p.Val1756=
NM_001353952.2:c.5266_5267delinsGT	NP_001340881.1:p.Val1756=
NM_001353954.2:c.5263_5264delinsGT	NP_001340883.1:p.Val1755=
NM_001353955.2:c.5263_5264delinsGT	NP_001340884.1:p.Val1755=
NM_001353957.2:c.5215_5216delinsGT	NP_001340886.1:p.Val1739=
NM_001353958.2:c.5215_5216delinsGT	NP_001340887.1:p.Val1739=
NM_001353960.2:c.5212_5213delinsGT	NP_001340889.1:p.Val1738=
NM_001353961.2:c.2857_2858delinsGT	NP_001340890.1:p.Val953=
NM_006920.6:c.5266_5267delinsGT	NP_008851.3:p.Val1756=
NR_148667.2:n.5716_5717delinsGT
NM_001165963.4:c.5299_5300delinsGT MANE Select	NP_001159435.1:p.Val1767=