Canonical Allele Identifier: CA891842518

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 579103
• ClinVar RCV Id: RCV000702298
• MyVariant Identifiers: chr2:g.166907828_166909402del (hg19) ; chr2:g.166051317_166052891del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166051318_166052892del , CM000664.2:g.166051318_166052892del	GRCh38
NC_000002.11:g.166907828_166909402del , CM000664.1:g.166907828_166909402del	GRCh37
NC_000002.10:g.166616074_166617648del	NCBI36
NG_011906.1:g.25749_27323del , LRG_8:g.25749_27323del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.655_964+402del
ENST00000303395.9:c.655_964+402del
ENST00000635750.1:c.655_964+402del
ENST00000635776.1:c.655_964+402del
ENST00000636194.1:c.655_964+402del
ENST00000636759.1:c.*445_*754+402del
ENST00000637968.1:n.907_1216+402del
ENST00000637988.1:c.655_964+402del
ENST00000640036.1:c.694+148_964+402del
ENST00000641575.1:c.655_964+402del
ENST00000641603.1:c.655_964+402del
ENST00000641996.1:c.*209_*518+402del
ENST00000671940.1:c.655_964+402del
ENST00000673490.1:n.3128_3437+402del
ENST00000674923.1:c.655_964+402del
ENST00000303395.8:c.655_964+402del
ENST00000375405.7:c.655_964+402del
ENST00000409050.1:c.655_964+402del
ENST00000423058.6:c.655_964+402del
NM_001165963.1:c.655_964+402del
NM_001165964.1:c.655_964+402del
NM_001202435.1:c.655_964+402del
NM_006920.4:c.655_964+402del , LRG_8t1:c.655_964+402del
XM_011511598.1:c.655_964+402del
XM_011511599.1:c.655_964+402del
XM_011511600.1:c.655_964+402del
XM_011511601.1:c.655_964+402del
XM_011511602.1:c.655_964+402del
XM_011511603.1:c.655_964+402del
XM_011511604.1:c.655_964+402del
XM_011511605.1:c.655_964+402del
XM_011511606.1:c.655_964+402del
XM_011511607.1:c.655_964+402del
XR_922981.1:n.839_1148+402del
NM_001165963.2:c.655_964+402del
NM_001165964.2:c.655_964+402del
NM_001202435.2:c.655_964+402del
NM_001353948.1:c.655_964+402del
NM_001353949.1:c.655_964+402del
NM_001353950.1:c.655_964+402del
NM_001353951.1:c.655_964+402del
NM_001353952.1:c.655_964+402del
NM_001353954.1:c.655_964+402del
NM_001353955.1:c.655_964+402del
NM_001353957.1:c.655_964+402del
NM_001353958.1:c.655_964+402del
NM_001353960.1:c.655_964+402del
NM_001353961.1:c.-1771_-1462+402del
NM_006920.5:c.655_964+402del
NR_148667.1:n.1060_1369+402del
XR_001738883.1:n.1041_1350+402del
XR_001738884.1:n.1046_1355+402del
NM_001165963.3:c.655_964+402del
NM_001165964.3:c.655_964+402del
NM_001202435.3:c.655_964+402del
NM_001353948.2:c.655_964+402del
NM_001353949.2:c.655_964+402del
NM_001353950.2:c.655_964+402del
NM_001353951.2:c.655_964+402del
NM_001353952.2:c.655_964+402del
NM_001353954.2:c.655_964+402del
NM_001353955.2:c.655_964+402del
NM_001353957.2:c.655_964+402del
NM_001353958.2:c.655_964+402del
NM_001353960.2:c.655_964+402del
NM_001353961.2:c.-1771_-1462+402del
NM_006920.6:c.655_964+402del
NR_148667.2:n.1041_1350+402del
NM_001165963.4:c.655_964+402del