Canonical Allele Identifier: CA2739292258

Gene: SCN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166051988_166051990del , CM000664.2:g.166051988_166051990del	GRCh38
NC_000002.11:g.166908498_166908500del , CM000664.1:g.166908498_166908500del	GRCh37
NC_000002.10:g.166616744_166616746del	NCBI36
NG_011906.1:g.26650_26652del , LRG_8:g.26650_26652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.695-2_695del
ENST00000303395.9:c.695-2_695del
ENST00000635750.1:c.695-2_695del
ENST00000635776.1:c.695-2_695del
ENST00000636194.1:c.695-2_695del
ENST00000636759.1:c.*485-2_*485del
ENST00000637968.1:n.947-2_947del
ENST00000637988.1:c.695-2_695del
ENST00000640036.1:c.695-2_695del
ENST00000641575.1:c.695-2_695del
ENST00000641603.1:c.695-2_695del
ENST00000641996.1:c.*249-2_*249del
ENST00000671940.1:c.695-2_695del
ENST00000673490.1:n.3168-2_3168del
ENST00000674923.1:c.695-2_695del
ENST00000303395.8:c.695-2_695del
ENST00000375405.7:c.695-2_695del
ENST00000409050.1:c.695-2_695del
ENST00000423058.6:c.695-2_695del
NM_001165963.1:c.695-2_695del
NM_001165964.1:c.695-2_695del
NM_001202435.1:c.695-2_695del
NM_006920.4:c.695-2_695del , LRG_8t1:c.695-2_695del
XM_011511598.1:c.695-2_695del
XM_011511599.1:c.695-2_695del
XM_011511600.1:c.695-2_695del
XM_011511601.1:c.695-2_695del
XM_011511602.1:c.695-2_695del
XM_011511603.1:c.695-2_695del
XM_011511604.1:c.695-2_695del
XM_011511605.1:c.695-2_695del
XM_011511606.1:c.695-2_695del
XM_011511607.1:c.695-2_695del
XR_922981.1:n.879-2_879del
NM_001165963.2:c.695-2_695del
NM_001165964.2:c.695-2_695del
NM_001202435.2:c.695-2_695del
NM_001353948.1:c.695-2_695del
NM_001353949.1:c.695-2_695del
NM_001353950.1:c.695-2_695del
NM_001353951.1:c.695-2_695del
NM_001353952.1:c.695-2_695del
NM_001353954.1:c.695-2_695del
NM_001353955.1:c.695-2_695del
NM_001353957.1:c.695-2_695del
NM_001353958.1:c.695-2_695del
NM_001353960.1:c.695-2_695del
NM_001353961.1:c.-1731-2_-1731del
NM_006920.5:c.695-2_695del
NR_148667.1:n.1100-2_1100del
XR_001738883.1:n.1081-2_1081del
XR_001738884.1:n.1086-2_1086del
NM_001165963.3:c.695-2_695del
NM_001165964.3:c.695-2_695del
NM_001202435.3:c.695-2_695del
NM_001353948.2:c.695-2_695del
NM_001353949.2:c.695-2_695del
NM_001353950.2:c.695-2_695del
NM_001353951.2:c.695-2_695del
NM_001353952.2:c.695-2_695del
NM_001353954.2:c.695-2_695del
NM_001353955.2:c.695-2_695del
NM_001353957.2:c.695-2_695del
NM_001353958.2:c.695-2_695del
NM_001353960.2:c.695-2_695del
NM_001353961.2:c.-1731-2_-1731del
NM_006920.6:c.695-2_695del
NR_148667.2:n.1081-2_1081del
NM_001165963.4:c.695-2_695del