Canonical Allele Identifier: CA537137444

Gene: SCN1A

Linked Data

• dbSNP Id: rs1282207141
• gnomAD v2: 2-166894179-TAC-T
• gnomAD v3: 2-166037669-TAC-T
• gnomAD v4: 2-166037669-TAC-T
• MyVariant Identifiers: chr2:g.166894180_166894181del (hg19) ; chr2:g.166037670_166037671del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166037670_166037671del , CM000664.2:g.166037670_166037671del	GRCh38
NC_000002.11:g.166894180_166894181del , CM000664.1:g.166894180_166894181del	GRCh37
NC_000002.10:g.166602426_166602427del	NCBI36
NG_011906.1:g.40969_40970del , LRG_8:g.40969_40970del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*982+105_*982+106del	ENSP00000509637.1:n.*982+105_*982+106del
ENST00000303395.9:c.2946+105_2946+106del	ENSP00000303540.4:n.2946+105_2946+106del
ENST00000635750.1:c.2913+105_2913+106del	ENSP00000490799.1:n.2913+105_2913+106del
ENST00000635776.1:c.2913+105_2913+106del	ENSP00000490692.1:n.2913+105_2913+106del
ENST00000636194.1:c.*439+105_*439+106del	ENSP00000490288.1:n.*439+105_*439+106del
ENST00000637968.1:n.3198+105_3198+106del
ENST00000637988.1:c.2913+105_2913+106del	ENSP00000490780.1:n.2913+105_2913+106del
ENST00000640036.1:c.2913+105_2913+106del	ENSP00000491573.1:n.2913+105_2913+106del
ENST00000641575.1:c.2910+105_2910+106del	ENSP00000492917.1:n.2910+105_2910+106del
ENST00000641603.1:c.2946+105_2946+106del	ENSP00000492945.1:n.2946+105_2946+106del
ENST00000641996.1:c.*2500+105_*2500+106del	ENSP00000493054.1:n.*2500+105_*2500+106de...
ENST00000671940.1:c.*889+105_*889+106del	ENSP00000500336.1:n.*889+105_*889+106del
ENST00000673490.1:n.5419+105_5419+106del
ENST00000674923.1:c.2946+105_2946+106del MANE Select	ENSP00000501589.1:n.2946+105_2946+106del
ENST00000303395.8:c.2946+105_2946+106del	ENSP00000303540.4:n.2946+105_2946+106del
ENST00000375405.7:c.2913+105_2913+106del	ENSP00000364554.3:n.2913+105_2913+106del
ENST00000409050.1:c.2862+105_2862+106del	ENSP00000386312.1:n.2862+105_2862+106del
ENST00000423058.6:c.2946+105_2946+106del	ENSP00000407030.2:n.2946+105_2946+106del
NM_001165963.1:c.2946+105_2946+106del	NP_001159435.1:n.2946+105_2946+106del
NM_001165964.1:c.2862+105_2862+106del	NP_001159436.1:n.2862+105_2862+106del
NM_001202435.1:c.2946+105_2946+106del	NP_001189364.1:n.2946+105_2946+106del
NM_006920.4:c.2913+105_2913+106del , LRG_8t1:c.2913+105_2913+106del	NP_008851.3:n.2913+105_2913+106del
XM_011511598.1:c.2946+105_2946+106del	XP_011509900.1:n.2946+105_2946+106del
XM_011511599.1:c.2946+105_2946+106del	XP_011509901.1:n.2946+105_2946+106del
XM_011511600.1:c.2946+105_2946+106del	XP_011509902.1:n.2946+105_2946+106del
XM_011511601.1:c.2946+105_2946+106del	XP_011509903.1:n.2946+105_2946+106del
XM_011511602.1:c.2946+105_2946+106del	XP_011509904.1:n.2946+105_2946+106del
XM_011511603.1:c.2943+105_2943+106del	XP_011509905.1:n.2943+105_2943+106del
XM_011511604.1:c.2913+105_2913+106del	XP_011509906.1:n.2913+105_2913+106del
XM_011511605.1:c.2910+105_2910+106del	XP_011509907.1:n.2910+105_2910+106del
XM_011511606.1:c.2862+105_2862+106del	XP_011509908.1:n.2862+105_2862+106del
XM_011511607.1:c.2946+105_2946+106del	XP_011509909.1:n.2946+105_2946+106del
XR_922981.1:n.3130+105_3130+106del
NM_001165963.2:c.2946+105_2946+106del	NP_001159435.1:n.2946+105_2946+106del
NM_001165964.2:c.2862+105_2862+106del	NP_001159436.1:n.2862+105_2862+106del
NM_001202435.2:c.2946+105_2946+106del	NP_001189364.1:n.2946+105_2946+106del
NM_001353948.1:c.2946+105_2946+106del	NP_001340877.1:n.2946+105_2946+106del
NM_001353949.1:c.2913+105_2913+106del	NP_001340878.1:n.2913+105_2913+106del
NM_001353950.1:c.2913+105_2913+106del	NP_001340879.1:n.2913+105_2913+106del
NM_001353951.1:c.2913+105_2913+106del	NP_001340880.1:n.2913+105_2913+106del
NM_001353952.1:c.2913+105_2913+106del	NP_001340881.1:n.2913+105_2913+106del
NM_001353954.1:c.2910+105_2910+106del	NP_001340883.1:n.2910+105_2910+106del
NM_001353955.1:c.2910+105_2910+106del	NP_001340884.1:n.2910+105_2910+106del
NM_001353957.1:c.2862+105_2862+106del	NP_001340886.1:n.2862+105_2862+106del
NM_001353958.1:c.2862+105_2862+106del	NP_001340887.1:n.2862+105_2862+106del
NM_001353960.1:c.2859+105_2859+106del	NP_001340889.1:n.2859+105_2859+106del
NM_001353961.1:c.504+105_504+106del	NP_001340890.1:n.504+105_504+106del
NM_006920.5:c.2913+105_2913+106del	NP_008851.3:n.2913+105_2913+106del
NR_148667.1:n.3318+105_3318+106del
XR_001738883.1:n.3332+105_3332+106del
XR_001738884.1:n.3304+105_3304+106del
NM_001165963.3:c.2946+105_2946+106del	NP_001159435.1:n.2946+105_2946+106del
NM_001165964.3:c.2862+105_2862+106del	NP_001159436.1:n.2862+105_2862+106del
NM_001202435.3:c.2946+105_2946+106del	NP_001189364.1:n.2946+105_2946+106del
NM_001353948.2:c.2946+105_2946+106del	NP_001340877.1:n.2946+105_2946+106del
NM_001353949.2:c.2913+105_2913+106del	NP_001340878.1:n.2913+105_2913+106del
NM_001353950.2:c.2913+105_2913+106del	NP_001340879.1:n.2913+105_2913+106del
NM_001353951.2:c.2913+105_2913+106del	NP_001340880.1:n.2913+105_2913+106del
NM_001353952.2:c.2913+105_2913+106del	NP_001340881.1:n.2913+105_2913+106del
NM_001353954.2:c.2910+105_2910+106del	NP_001340883.1:n.2910+105_2910+106del
NM_001353955.2:c.2910+105_2910+106del	NP_001340884.1:n.2910+105_2910+106del
NM_001353957.2:c.2862+105_2862+106del	NP_001340886.1:n.2862+105_2862+106del
NM_001353958.2:c.2862+105_2862+106del	NP_001340887.1:n.2862+105_2862+106del
NM_001353960.2:c.2859+105_2859+106del	NP_001340889.1:n.2859+105_2859+106del
NM_001353961.2:c.504+105_504+106del	NP_001340890.1:n.504+105_504+106del
NM_006920.6:c.2913+105_2913+106del	NP_008851.3:n.2913+105_2913+106del
NR_148667.2:n.3299+105_3299+106del
NM_001165963.4:c.2946+105_2946+106del MANE Select	NP_001159435.1:n.2946+105_2946+106del