Canonical Allele Identifier: CA1943215

Gene: SCN1A

Linked Data

• dbSNP Id: rs778922058
• ExAC: 2:166900165 TAA / T
• gnomAD v2: 2-166900165-TAA-T
• gnomAD v4: 2-166043655-TAA-T
• MyVariant Identifiers: chr2:g.166900166_166900167del (hg19) ; chr2:g.166043656_166043657del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166043658_166043659del , CM000664.2:g.166043658_166043659del	GRCh38
NC_000002.11:g.166900168_166900169del , CM000664.1:g.166900168_166900169del	GRCh37
NC_000002.10:g.166608414_166608415del	NCBI36
NG_011906.1:g.34983_34984del , LRG_8:g.34983_34984del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.2055_2056del	ENSP00000509637.1:p.Phe685LeufsTer?
ENST00000303395.9:c.2043+12_2043+13del	ENSP00000303540.4:n.2043+12_2043+13del
ENST00000635750.1:c.2010+45_2010+46del	ENSP00000490799.1:n.2010+45_2010+46del
ENST00000635776.1:c.2010+45_2010+46del	ENSP00000490692.1:n.2010+45_2010+46del
ENST00000636194.1:c.2010+45_2010+46del	ENSP00000490288.1:n.2010+45_2010+46del
ENST00000636759.1:c.*1833+12_*1833+13del	ENSP00000490895.1:n.*1833+12_*1833+13del
ENST00000637968.1:n.2295+12_2295+13del
ENST00000637988.1:c.2010+45_2010+46del	ENSP00000490780.1:n.2010+45_2010+46del
ENST00000640036.1:c.2010+45_2010+46del	ENSP00000491573.1:n.2010+45_2010+46del
ENST00000641575.1:c.2007+45_2007+46del	ENSP00000492917.1:n.2007+45_2007+46del
ENST00000641603.1:c.2043+12_2043+13del	ENSP00000492945.1:n.2043+12_2043+13del
ENST00000641996.1:c.*1597+12_*1597+13del	ENSP00000493054.1:n.*1597+12_*1597+13del
ENST00000671940.1:c.1876+179_1876+180del	ENSP00000500336.1:n.1876+179_1876+180del
ENST00000673490.1:n.4516+12_4516+13del
ENST00000674923.1:c.2043+12_2043+13del MANE Select	ENSP00000501589.1:n.2043+12_2043+13del
ENST00000303395.8:c.2043+12_2043+13del	ENSP00000303540.4:n.2043+12_2043+13del
ENST00000375405.7:c.2010+45_2010+46del	ENSP00000364554.3:n.2010+45_2010+46del
ENST00000409050.1:c.1959+96_1959+97del	ENSP00000386312.1:n.1959+96_1959+97del
ENST00000423058.6:c.2043+12_2043+13del	ENSP00000407030.2:n.2043+12_2043+13del
NM_001165963.1:c.2043+12_2043+13del	NP_001159435.1:n.2043+12_2043+13del
NM_001165964.1:c.1959+96_1959+97del	NP_001159436.1:n.1959+96_1959+97del
NM_001202435.1:c.2043+12_2043+13del	NP_001189364.1:n.2043+12_2043+13del
NM_006920.4:c.2010+45_2010+46del , LRG_8t1:c.2010+45_2010+46del	NP_008851.3:n.2010+45_2010+46del
XM_011511598.1:c.2043+12_2043+13del	XP_011509900.1:n.2043+12_2043+13del
XM_011511599.1:c.2043+12_2043+13del	XP_011509901.1:n.2043+12_2043+13del
XM_011511600.1:c.2043+12_2043+13del	XP_011509902.1:n.2043+12_2043+13del
XM_011511601.1:c.2043+12_2043+13del	XP_011509903.1:n.2043+12_2043+13del
XM_011511602.1:c.2043+12_2043+13del	XP_011509904.1:n.2043+12_2043+13del
XM_011511603.1:c.2040+12_2040+13del	XP_011509905.1:n.2040+12_2040+13del
XM_011511604.1:c.2010+45_2010+46del	XP_011509906.1:n.2010+45_2010+46del
XM_011511605.1:c.2007+45_2007+46del	XP_011509907.1:n.2007+45_2007+46del
XM_011511606.1:c.1959+96_1959+97del	XP_011509908.1:n.1959+96_1959+97del
XM_011511607.1:c.2043+12_2043+13del	XP_011509909.1:n.2043+12_2043+13del
XR_922981.1:n.2227+12_2227+13del
NM_001165963.2:c.2043+12_2043+13del	NP_001159435.1:n.2043+12_2043+13del
NM_001165964.2:c.1959+96_1959+97del	NP_001159436.1:n.1959+96_1959+97del
NM_001202435.2:c.2043+12_2043+13del	NP_001189364.1:n.2043+12_2043+13del
NM_001353948.1:c.2043+12_2043+13del	NP_001340877.1:n.2043+12_2043+13del
NM_001353949.1:c.2010+45_2010+46del	NP_001340878.1:n.2010+45_2010+46del
NM_001353950.1:c.2010+45_2010+46del	NP_001340879.1:n.2010+45_2010+46del
NM_001353951.1:c.2010+45_2010+46del	NP_001340880.1:n.2010+45_2010+46del
NM_001353952.1:c.2010+45_2010+46del	NP_001340881.1:n.2010+45_2010+46del
NM_001353954.1:c.2007+45_2007+46del	NP_001340883.1:n.2007+45_2007+46del
NM_001353955.1:c.2007+45_2007+46del	NP_001340884.1:n.2007+45_2007+46del
NM_001353957.1:c.1959+96_1959+97del	NP_001340886.1:n.1959+96_1959+97del
NM_001353958.1:c.1959+96_1959+97del	NP_001340887.1:n.1959+96_1959+97del
NM_001353960.1:c.1956+96_1956+97del	NP_001340889.1:n.1956+96_1956+97del
NM_001353961.1:c.-416+45_-416+46del	NP_001340890.1:n.-416+45_-416+46del
NM_006920.5:c.2010+45_2010+46del	NP_008851.3:n.2010+45_2010+46del
NR_148667.1:n.2415+45_2415+46del
XR_001738883.1:n.2429+12_2429+13del
XR_001738884.1:n.2401+45_2401+46del
NM_001165963.3:c.2043+12_2043+13del	NP_001159435.1:n.2043+12_2043+13del
NM_001165964.3:c.1959+96_1959+97del	NP_001159436.1:n.1959+96_1959+97del
NM_001202435.3:c.2043+12_2043+13del	NP_001189364.1:n.2043+12_2043+13del
NM_001353948.2:c.2043+12_2043+13del	NP_001340877.1:n.2043+12_2043+13del
NM_001353949.2:c.2010+45_2010+46del	NP_001340878.1:n.2010+45_2010+46del
NM_001353950.2:c.2010+45_2010+46del	NP_001340879.1:n.2010+45_2010+46del
NM_001353951.2:c.2010+45_2010+46del	NP_001340880.1:n.2010+45_2010+46del
NM_001353952.2:c.2010+45_2010+46del	NP_001340881.1:n.2010+45_2010+46del
NM_001353954.2:c.2007+45_2007+46del	NP_001340883.1:n.2007+45_2007+46del
NM_001353955.2:c.2007+45_2007+46del	NP_001340884.1:n.2007+45_2007+46del
NM_001353957.2:c.1959+96_1959+97del	NP_001340886.1:n.1959+96_1959+97del
NM_001353958.2:c.1959+96_1959+97del	NP_001340887.1:n.1959+96_1959+97del
NM_001353960.2:c.1956+96_1956+97del	NP_001340889.1:n.1956+96_1956+97del
NM_001353961.2:c.-416+45_-416+46del	NP_001340890.1:n.-416+45_-416+46del
NM_006920.6:c.2010+45_2010+46del	NP_008851.3:n.2010+45_2010+46del
NR_148667.2:n.2396+45_2396+46del
NM_001165963.4:c.2043+12_2043+13del MANE Select	NP_001159435.1:n.2043+12_2043+13del