Canonical Allele Identifier: CA2697551222

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 2702201
• ClinVar RCV Id: RCV003589725

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166037779_166037794del , CM000664.2:g.166037779_166037794del	GRCh38
NC_000002.11:g.166894289_166894304del , CM000664.1:g.166894289_166894304del	GRCh37
NC_000002.10:g.166602535_166602550del	NCBI36
NG_011906.1:g.40847_40862del , LRG_8:g.40847_40862del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*965_*980del	ENSP00000509637.1:n.*965_*980del
ENST00000303395.9:c.2929_2944del	ENSP00000303540.4:p.Val977TrpfsTer3
ENST00000635750.1:c.2896_2911del	ENSP00000490799.1:p.Val966TrpfsTer3
ENST00000635776.1:c.2896_2911del	ENSP00000490692.1:p.Val966TrpfsTer3
ENST00000636194.1:c.*422_*437del	ENSP00000490288.1:n.*422_*437del
ENST00000636759.1:c.*2719_*2734del	ENSP00000490895.1:n.*2719_*2734del
ENST00000637968.1:n.3181_3196del
ENST00000637988.1:c.2896_2911del	ENSP00000490780.1:p.Val966TrpfsTer3
ENST00000640036.1:c.2896_2911del	ENSP00000491573.1:p.Val966TrpfsTer3
ENST00000641575.1:c.2893_2908del	ENSP00000492917.1:p.Val965TrpfsTer3
ENST00000641603.1:c.2929_2944del	ENSP00000492945.1:p.Val977TrpfsTer3
ENST00000641996.1:c.*2483_*2498del	ENSP00000493054.1:n.*2483_*2498del
ENST00000671940.1:c.*872_*887del	ENSP00000500336.1:n.*872_*887del
ENST00000673490.1:n.5402_5417del
ENST00000674923.1:c.2929_2944del MANE Select	ENSP00000501589.1:p.Val977TrpfsTer3
ENST00000303395.8:c.2929_2944del	ENSP00000303540.4:p.Val977TrpfsTer3
ENST00000375405.7:c.2896_2911del	ENSP00000364554.3:p.Val966TrpfsTer3
ENST00000409050.1:c.2845_2860del	ENSP00000386312.1:p.Val949TrpfsTer3
ENST00000423058.6:c.2929_2944del	ENSP00000407030.2:p.Val977TrpfsTer3
NM_001165963.1:c.2929_2944del	NP_001159435.1:p.Val977TrpfsTer3
NM_001165964.1:c.2845_2860del	NP_001159436.1:p.Val949TrpfsTer3
NM_001202435.1:c.2929_2944del	NP_001189364.1:p.Val977TrpfsTer3
NM_006920.4:c.2896_2911del , LRG_8t1:c.2896_2911del	NP_008851.3:p.Val966TrpfsTer3
XM_011511598.1:c.2929_2944del	XP_011509900.1:p.Val977TrpfsTer3
XM_011511599.1:c.2929_2944del	XP_011509901.1:p.Val977TrpfsTer3
XM_011511600.1:c.2929_2944del	XP_011509902.1:p.Val977TrpfsTer3
XM_011511601.1:c.2929_2944del	XP_011509903.1:p.Val977TrpfsTer3
XM_011511602.1:c.2929_2944del	XP_011509904.1:p.Val977TrpfsTer3
XM_011511603.1:c.2926_2941del	XP_011509905.1:p.Val976TrpfsTer3
XM_011511604.1:c.2896_2911del	XP_011509906.1:p.Val966TrpfsTer3
XM_011511605.1:c.2893_2908del	XP_011509907.1:p.Val965TrpfsTer3
XM_011511606.1:c.2845_2860del	XP_011509908.1:p.Val949TrpfsTer3
XM_011511607.1:c.2929_2944del	XP_011509909.1:p.Val977TrpfsTer3
XR_922981.1:n.3113_3128del
NM_001165963.2:c.2929_2944del	NP_001159435.1:p.Val977TrpfsTer3
NM_001165964.2:c.2845_2860del	NP_001159436.1:p.Val949TrpfsTer3
NM_001202435.2:c.2929_2944del	NP_001189364.1:p.Val977TrpfsTer3
NM_001353948.1:c.2929_2944del	NP_001340877.1:p.Val977TrpfsTer3
NM_001353949.1:c.2896_2911del	NP_001340878.1:p.Val966TrpfsTer3
NM_001353950.1:c.2896_2911del	NP_001340879.1:p.Val966TrpfsTer3
NM_001353951.1:c.2896_2911del	NP_001340880.1:p.Val966TrpfsTer3
NM_001353952.1:c.2896_2911del	NP_001340881.1:p.Val966TrpfsTer3
NM_001353954.1:c.2893_2908del	NP_001340883.1:p.Val965TrpfsTer3
NM_001353955.1:c.2893_2908del	NP_001340884.1:p.Val965TrpfsTer3
NM_001353957.1:c.2845_2860del	NP_001340886.1:p.Val949TrpfsTer3
NM_001353958.1:c.2845_2860del	NP_001340887.1:p.Val949TrpfsTer3
NM_001353960.1:c.2842_2857del	NP_001340889.1:p.Val948TrpfsTer3
NM_001353961.1:c.487_502del	NP_001340890.1:p.Val163TrpfsTer3
NM_006920.5:c.2896_2911del	NP_008851.3:p.Val966TrpfsTer3
NR_148667.1:n.3301_3316del
XR_001738883.1:n.3315_3330del
XR_001738884.1:n.3287_3302del
NM_001165963.3:c.2929_2944del	NP_001159435.1:p.Val977TrpfsTer3
NM_001165964.3:c.2845_2860del	NP_001159436.1:p.Val949TrpfsTer3
NM_001202435.3:c.2929_2944del	NP_001189364.1:p.Val977TrpfsTer3
NM_001353948.2:c.2929_2944del	NP_001340877.1:p.Val977TrpfsTer3
NM_001353949.2:c.2896_2911del	NP_001340878.1:p.Val966TrpfsTer3
NM_001353950.2:c.2896_2911del	NP_001340879.1:p.Val966TrpfsTer3
NM_001353951.2:c.2896_2911del	NP_001340880.1:p.Val966TrpfsTer3
NM_001353952.2:c.2896_2911del	NP_001340881.1:p.Val966TrpfsTer3
NM_001353954.2:c.2893_2908del	NP_001340883.1:p.Val965TrpfsTer3
NM_001353955.2:c.2893_2908del	NP_001340884.1:p.Val965TrpfsTer3
NM_001353957.2:c.2845_2860del	NP_001340886.1:p.Val949TrpfsTer3
NM_001353958.2:c.2845_2860del	NP_001340887.1:p.Val949TrpfsTer3
NM_001353960.2:c.2842_2857del	NP_001340889.1:p.Val948TrpfsTer3
NM_001353961.2:c.487_502del	NP_001340890.1:p.Val163TrpfsTer3
NM_006920.6:c.2896_2911del	NP_008851.3:p.Val966TrpfsTer3
NR_148667.2:n.3282_3297del
NM_001165963.4:c.2929_2944del MANE Select	NP_001159435.1:p.Val977TrpfsTer3