Canonical Allele Identifier: CA537166533

Gene: SCN1A

Linked Data

• gnomAD v2: 2-166850953-C-CAGTTA
• MyVariant Identifiers: chr2:g.166850953_166850954insAGTTA (hg19) ; chr2:g.165994443_165994444insAGTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165994444_165994445insGTTAA , CM000664.2:g.165994444_165994445insGTTAA	GRCh38
NC_000002.11:g.166850954_166850955insGTTAA , CM000664.1:g.166850954_166850955insGTTAA	GRCh37
NC_000002.10:g.166559200_166559201insGTTAA	NCBI36
NG_011906.1:g.84196_84197insTAACT , LRG_8:g.84196_84197insTAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*2618-28_*2618-27insTAACT	ENSP00000509637.1:n.*2618-28_*2618-27insTAACT
ENST00000303395.9:c.4582-28_4582-27insTAACT	ENSP00000303540.4:n.4582-28_4582-27insTAACT
ENST00000635750.1:c.4549-28_4549-27insTAACT	ENSP00000490799.1:n.4549-28_4549-27insTAACT
ENST00000635776.1:c.4549-28_4549-27insTAACT	ENSP00000490692.1:n.4549-28_4549-27insTAACT
ENST00000636194.1:c.*2075-28_*2075-27insTAACT	ENSP00000490288.1:n.*2075-28_*2075-27insTAACT
ENST00000637038.1:c.1444-28_1444-27insTAACT
ENST00000637988.1:c.4549-28_4549-27insTAACT	ENSP00000490780.1:n.4549-28_4549-27insTAACT
ENST00000640036.1:c.4549-28_4549-27insTAACT	ENSP00000491573.1:n.4549-28_4549-27insTAACT
ENST00000641575.1:c.4546-28_4546-27insTAACT	ENSP00000492917.1:n.4546-28_4546-27insTAACT
ENST00000641603.1:c.4300-28_4300-27insTAACT	ENSP00000492945.1:n.4300-28_4300-27insTAACT
ENST00000641996.1:c.*4136-28_*4136-27insTAACT	ENSP00000493054.1:n.*4136-28_*4136-27insTAACT
ENST00000671940.1:c.*2525-28_*2525-27insTAACT	ENSP00000500336.1:n.*2525-28_*2525-27insTAACT
ENST00000673490.1:n.7055-28_7055-27insTAACT
ENST00000674923.1:c.4582-28_4582-27insTAACT MANE Select	ENSP00000501589.1:n.4582-28_4582-27insTAACT
ENST00000303395.8:c.4582-28_4582-27insTAACT	ENSP00000303540.4:n.4582-28_4582-27insTAACT
ENST00000375405.7:c.4549-28_4549-27insTAACT	ENSP00000364554.3:n.4549-28_4549-27insTAACT
ENST00000409050.1:c.4498-28_4498-27insTAACT	ENSP00000386312.1:n.4498-28_4498-27insTAACT
ENST00000423058.6:c.4582-28_4582-27insTAACT	ENSP00000407030.2:n.4582-28_4582-27insTAACT
ENST00000625916.1:n.311-28_311-27insTAACT
NM_001165963.1:c.4582-28_4582-27insTAACT	NP_001159435.1:n.4582-28_4582-27insTAACT
NM_001165964.1:c.4498-28_4498-27insTAACT	NP_001159436.1:n.4498-28_4498-27insTAACT
NM_001202435.1:c.4582-28_4582-27insTAACT	NP_001189364.1:n.4582-28_4582-27insTAACT
NM_006920.4:c.4549-28_4549-27insTAACT , LRG_8t1:c.4549-28_4549-27insTAACT	NP_008851.3:n.4549-28_4549-27insTAACT
NR_110598.1:n.176-21169_176-21168insGTTAA
XM_011511598.1:c.4582-28_4582-27insTAACT	XP_011509900.1:n.4582-28_4582-27insTAACT
XM_011511599.1:c.4582-28_4582-27insTAACT	XP_011509901.1:n.4582-28_4582-27insTAACT
XM_011511600.1:c.4582-28_4582-27insTAACT	XP_011509902.1:n.4582-28_4582-27insTAACT
XM_011511601.1:c.4582-28_4582-27insTAACT	XP_011509903.1:n.4582-28_4582-27insTAACT
XM_011511602.1:c.4582-28_4582-27insTAACT	XP_011509904.1:n.4582-28_4582-27insTAACT
XM_011511603.1:c.4579-28_4579-27insTAACT	XP_011509905.1:n.4579-28_4579-27insTAACT
XM_011511604.1:c.4549-28_4549-27insTAACT	XP_011509906.1:n.4549-28_4549-27insTAACT
XM_011511605.1:c.4546-28_4546-27insTAACT	XP_011509907.1:n.4546-28_4546-27insTAACT
XM_011511606.1:c.4498-28_4498-27insTAACT	XP_011509908.1:n.4498-28_4498-27insTAACT
XM_011511607.1:c.4300-28_4300-27insTAACT	XP_011509909.1:n.4300-28_4300-27insTAACT
NM_001165963.2:c.4582-28_4582-27insTAACT	NP_001159435.1:n.4582-28_4582-27insTAACT
NM_001165964.2:c.4498-28_4498-27insTAACT	NP_001159436.1:n.4498-28_4498-27insTAACT
NM_001202435.2:c.4582-28_4582-27insTAACT	NP_001189364.1:n.4582-28_4582-27insTAACT
NM_001353948.1:c.4582-28_4582-27insTAACT	NP_001340877.1:n.4582-28_4582-27insTAACT
NM_001353949.1:c.4549-28_4549-27insTAACT	NP_001340878.1:n.4549-28_4549-27insTAACT
NM_001353950.1:c.4549-28_4549-27insTAACT	NP_001340879.1:n.4549-28_4549-27insTAACT
NM_001353951.1:c.4549-28_4549-27insTAACT	NP_001340880.1:n.4549-28_4549-27insTAACT
NM_001353952.1:c.4549-28_4549-27insTAACT	NP_001340881.1:n.4549-28_4549-27insTAACT
NM_001353954.1:c.4546-28_4546-27insTAACT	NP_001340883.1:n.4546-28_4546-27insTAACT
NM_001353955.1:c.4546-28_4546-27insTAACT	NP_001340884.1:n.4546-28_4546-27insTAACT
NM_001353957.1:c.4498-28_4498-27insTAACT	NP_001340886.1:n.4498-28_4498-27insTAACT
NM_001353958.1:c.4498-28_4498-27insTAACT	NP_001340887.1:n.4498-28_4498-27insTAACT
NM_001353960.1:c.4495-28_4495-27insTAACT	NP_001340889.1:n.4495-28_4495-27insTAACT
NM_001353961.1:c.2140-28_2140-27insTAACT	NP_001340890.1:n.2140-28_2140-27insTAACT
NM_006920.5:c.4549-28_4549-27insTAACT	NP_008851.3:n.4549-28_4549-27insTAACT
NR_148667.1:n.5018-28_5018-27insTAACT
XR_001738883.1:n.5032-28_5032-27insTAACT
XR_001738884.1:n.5004-28_5004-27insTAACT
NM_001165963.3:c.4582-28_4582-27insTAACT	NP_001159435.1:n.4582-28_4582-27insTAACT
NM_001165964.3:c.4498-28_4498-27insTAACT	NP_001159436.1:n.4498-28_4498-27insTAACT
NM_001202435.3:c.4582-28_4582-27insTAACT	NP_001189364.1:n.4582-28_4582-27insTAACT
NM_001353948.2:c.4582-28_4582-27insTAACT	NP_001340877.1:n.4582-28_4582-27insTAACT
NM_001353949.2:c.4549-28_4549-27insTAACT	NP_001340878.1:n.4549-28_4549-27insTAACT
NM_001353950.2:c.4549-28_4549-27insTAACT	NP_001340879.1:n.4549-28_4549-27insTAACT
NM_001353951.2:c.4549-28_4549-27insTAACT	NP_001340880.1:n.4549-28_4549-27insTAACT
NM_001353952.2:c.4549-28_4549-27insTAACT	NP_001340881.1:n.4549-28_4549-27insTAACT
NM_001353954.2:c.4546-28_4546-27insTAACT	NP_001340883.1:n.4546-28_4546-27insTAACT
NM_001353955.2:c.4546-28_4546-27insTAACT	NP_001340884.1:n.4546-28_4546-27insTAACT
NM_001353957.2:c.4498-28_4498-27insTAACT	NP_001340886.1:n.4498-28_4498-27insTAACT
NM_001353958.2:c.4498-28_4498-27insTAACT	NP_001340887.1:n.4498-28_4498-27insTAACT
NM_001353960.2:c.4495-28_4495-27insTAACT	NP_001340889.1:n.4495-28_4495-27insTAACT
NM_001353961.2:c.2140-28_2140-27insTAACT	NP_001340890.1:n.2140-28_2140-27insTAACT
NM_006920.6:c.4549-28_4549-27insTAACT	NP_008851.3:n.4549-28_4549-27insTAACT
NR_148667.2:n.4999-28_4999-27insTAACT
NM_001165963.4:c.4582-28_4582-27insTAACT MANE Select	NP_001159435.1:n.4582-28_4582-27insTAACT