Canonical Allele Identifier: CA658795909

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 524008
• ClinVar RCV Id: RCV000627500
• dbSNP Id: rs1553519690
• gnomAD v4: 2-165991261-T-TTTTCA
• MyVariant Identifiers: chr2:g.166847772_166847776dup (hg19) ; chr2:g.165991262_165991266dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165991263_165991267dup , CM000664.2:g.165991263_165991267dup	GRCh38
NC_000002.11:g.166847773_166847777dup , CM000664.1:g.166847773_166847777dup	GRCh37
NC_000002.10:g.166556019_166556023dup	NCBI36
NG_011906.1:g.87374_87378dup , LRG_8:g.87374_87378dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*4045_*4049dup	ENSP00000509637.1:n.*4045_*4049dup
ENST00000303395.9:c.6009_6013dup	ENSP00000303540.4:p.Lys2005MetfsTer9
ENST00000635750.1:c.5976_5980dup	ENSP00000490799.1:p.Lys1994MetfsTer9
ENST00000635776.1:c.*2842_*2846dup	ENSP00000490692.1:n.*2842_*2846dup
ENST00000636194.1:c.*3502_*3506dup	ENSP00000490288.1:n.*3502_*3506dup
ENST00000637038.1:c.2871_2875dup
ENST00000637988.1:c.5976_5980dup	ENSP00000490780.1:p.Lys1994MetfsTer9
ENST00000640036.1:c.5976_5980dup	ENSP00000491573.1:p.Lys1994MetfsTer9
ENST00000641575.1:c.5973_5977dup	ENSP00000492917.1:p.Lys1993MetfsTer9
ENST00000641603.1:c.5727_5731dup	ENSP00000492945.1:p.Lys1911MetfsTer9
ENST00000641996.1:c.*5563_*5567dup	ENSP00000493054.1:n.*5563_*5567dup
ENST00000671940.1:c.*3952_*3956dup	ENSP00000500336.1:n.*3952_*3956dup
ENST00000673490.1:n.8482_8486dup
ENST00000674923.1:c.6009_6013dup MANE Select	ENSP00000501589.1:p.Lys2005MetfsTer9
ENST00000303395.8:c.6009_6013dup	ENSP00000303540.4:p.Lys2005MetfsTer9
ENST00000375405.7:c.5976_5980dup	ENSP00000364554.3:p.Lys1994MetfsTer9
ENST00000409050.1:c.5925_5929dup	ENSP00000386312.1:p.Lys1977MetfsTer?
ENST00000423058.6:c.6009_6013dup	ENSP00000407030.2:p.Lys2005MetfsTer9
NM_001165963.1:c.6009_6013dup	NP_001159435.1:p.Lys2005MetfsTer9
NM_001165964.1:c.5925_5929dup	NP_001159436.1:p.Lys1977MetfsTer9
NM_001202435.1:c.6009_6013dup	NP_001189364.1:p.Lys2005MetfsTer9
NM_006920.4:c.5976_5980dup , LRG_8t1:c.5976_5980dup	NP_008851.3:p.Lys1994MetfsTer9
NR_110598.1:n.176-24350_176-24346dup
XM_011511598.1:c.6009_6013dup	XP_011509900.1:p.Lys2005MetfsTer9
XM_011511599.1:c.6009_6013dup	XP_011509901.1:p.Lys2005MetfsTer9
XM_011511600.1:c.6009_6013dup	XP_011509902.1:p.Lys2005MetfsTer9
XM_011511601.1:c.6009_6013dup	XP_011509903.1:p.Lys2005MetfsTer9
XM_011511602.1:c.6009_6013dup	XP_011509904.1:p.Lys2005MetfsTer9
XM_011511603.1:c.6006_6010dup	XP_011509905.1:p.Lys2004MetfsTer9
XM_011511604.1:c.5976_5980dup	XP_011509906.1:p.Lys1994MetfsTer9
XM_011511605.1:c.5973_5977dup	XP_011509907.1:p.Lys1993MetfsTer9
XM_011511606.1:c.5925_5929dup	XP_011509908.1:p.Lys1977MetfsTer9
XM_011511607.1:c.5727_5731dup	XP_011509909.1:p.Lys1911MetfsTer9
NM_001165963.2:c.6009_6013dup	NP_001159435.1:p.Lys2005MetfsTer9
NM_001165964.2:c.5925_5929dup	NP_001159436.1:p.Lys1977MetfsTer9
NM_001202435.2:c.6009_6013dup	NP_001189364.1:p.Lys2005MetfsTer9
NM_001353948.1:c.6009_6013dup	NP_001340877.1:p.Lys2005MetfsTer9
NM_001353949.1:c.5976_5980dup	NP_001340878.1:p.Lys1994MetfsTer9
NM_001353950.1:c.5976_5980dup	NP_001340879.1:p.Lys1994MetfsTer9
NM_001353951.1:c.5976_5980dup	NP_001340880.1:p.Lys1994MetfsTer9
NM_001353952.1:c.5976_5980dup	NP_001340881.1:p.Lys1994MetfsTer9
NM_001353954.1:c.5973_5977dup	NP_001340883.1:p.Lys1993MetfsTer9
NM_001353955.1:c.5973_5977dup	NP_001340884.1:p.Lys1993MetfsTer9
NM_001353957.1:c.5925_5929dup	NP_001340886.1:p.Lys1977MetfsTer9
NM_001353958.1:c.5925_5929dup	NP_001340887.1:p.Lys1977MetfsTer9
NM_001353960.1:c.5922_5926dup	NP_001340889.1:p.Lys1976MetfsTer9
NM_001353961.1:c.3567_3571dup	NP_001340890.1:p.Lys1191MetfsTer9
NM_006920.5:c.5976_5980dup	NP_008851.3:p.Lys1994MetfsTer9
NR_148667.1:n.6445_6449dup
XR_001738883.1:n.6459_6463dup
XR_001738884.1:n.6431_6435dup
NM_001165963.3:c.6009_6013dup	NP_001159435.1:p.Lys2005MetfsTer9
NM_001165964.3:c.5925_5929dup	NP_001159436.1:p.Lys1977MetfsTer9
NM_001202435.3:c.6009_6013dup	NP_001189364.1:p.Lys2005MetfsTer9
NM_001353948.2:c.6009_6013dup	NP_001340877.1:p.Lys2005MetfsTer9
NM_001353949.2:c.5976_5980dup	NP_001340878.1:p.Lys1994MetfsTer9
NM_001353950.2:c.5976_5980dup	NP_001340879.1:p.Lys1994MetfsTer9
NM_001353951.2:c.5976_5980dup	NP_001340880.1:p.Lys1994MetfsTer9
NM_001353952.2:c.5976_5980dup	NP_001340881.1:p.Lys1994MetfsTer9
NM_001353954.2:c.5973_5977dup	NP_001340883.1:p.Lys1993MetfsTer9
NM_001353955.2:c.5973_5977dup	NP_001340884.1:p.Lys1993MetfsTer9
NM_001353957.2:c.5925_5929dup	NP_001340886.1:p.Lys1977MetfsTer9
NM_001353958.2:c.5925_5929dup	NP_001340887.1:p.Lys1977MetfsTer9
NM_001353960.2:c.5922_5926dup	NP_001340889.1:p.Lys1976MetfsTer9
NM_001353961.2:c.3567_3571dup	NP_001340890.1:p.Lys1191MetfsTer9
NM_006920.6:c.5976_5980dup	NP_008851.3:p.Lys1994MetfsTer9
NR_148667.2:n.6426_6430dup
NM_001165963.4:c.6009_6013dup MANE Select	NP_001159435.1:p.Lys2005MetfsTer9