Canonical Allele Identifier: CA2661760975

Gene: SCN1A

Linked Data

• gnomAD v4: 2-166042285-TACCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166042289_166042292del , CM000664.2:g.166042289_166042292del	GRCh38
NC_000002.11:g.166898799_166898802del , CM000664.1:g.166898799_166898802del	GRCh37
NC_000002.10:g.166607045_166607048del	NCBI36
NG_011906.1:g.36351_36354del , LRG_8:g.36351_36354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*212+3_*212+6del
ENST00000303395.9:c.2176+3_2176+6del
ENST00000635750.1:c.2143+3_2143+6del
ENST00000635776.1:c.2143+3_2143+6del
ENST00000636194.1:c.2143+3_2143+6del
ENST00000636759.1:c.*1966+3_*1966+6del
ENST00000637968.1:n.2428+3_2428+6del
ENST00000637988.1:c.2143+3_2143+6del
ENST00000640036.1:c.2143+3_2143+6del
ENST00000641575.1:c.2140+3_2140+6del
ENST00000641603.1:c.2176+3_2176+6del
ENST00000641996.1:c.*1730+3_*1730+6del
ENST00000671940.1:c.*119+3_*119+6del
ENST00000673490.1:n.4649+3_4649+6del
ENST00000674923.1:c.2176+3_2176+6del
ENST00000303395.8:c.2176+3_2176+6del
ENST00000375405.7:c.2143+3_2143+6del
ENST00000409050.1:c.2092+3_2092+6del
ENST00000423058.6:c.2176+3_2176+6del
NM_001165963.1:c.2176+3_2176+6del
NM_001165964.1:c.2092+3_2092+6del
NM_001202435.1:c.2176+3_2176+6del
NM_006920.4:c.2143+3_2143+6del , LRG_8t1:c.2143+3_2143+6del
XM_011511598.1:c.2176+3_2176+6del
XM_011511599.1:c.2176+3_2176+6del
XM_011511600.1:c.2176+3_2176+6del
XM_011511601.1:c.2176+3_2176+6del
XM_011511602.1:c.2176+3_2176+6del
XM_011511603.1:c.2173+3_2173+6del
XM_011511604.1:c.2143+3_2143+6del
XM_011511605.1:c.2140+3_2140+6del
XM_011511606.1:c.2092+3_2092+6del
XM_011511607.1:c.2176+3_2176+6del
XR_922981.1:n.2360+3_2360+6del
NM_001165963.2:c.2176+3_2176+6del
NM_001165964.2:c.2092+3_2092+6del
NM_001202435.2:c.2176+3_2176+6del
NM_001353948.1:c.2176+3_2176+6del
NM_001353949.1:c.2143+3_2143+6del
NM_001353950.1:c.2143+3_2143+6del
NM_001353951.1:c.2143+3_2143+6del
NM_001353952.1:c.2143+3_2143+6del
NM_001353954.1:c.2140+3_2140+6del
NM_001353955.1:c.2140+3_2140+6del
NM_001353957.1:c.2092+3_2092+6del
NM_001353958.1:c.2092+3_2092+6del
NM_001353960.1:c.2089+3_2089+6del
NM_001353961.1:c.-283+3_-283+6del
NM_006920.5:c.2143+3_2143+6del
NR_148667.1:n.2548+3_2548+6del
XR_001738883.1:n.2562+3_2562+6del
XR_001738884.1:n.2534+3_2534+6del
NM_001165963.3:c.2176+3_2176+6del
NM_001165964.3:c.2092+3_2092+6del
NM_001202435.3:c.2176+3_2176+6del
NM_001353948.2:c.2176+3_2176+6del
NM_001353949.2:c.2143+3_2143+6del
NM_001353950.2:c.2143+3_2143+6del
NM_001353951.2:c.2143+3_2143+6del
NM_001353952.2:c.2143+3_2143+6del
NM_001353954.2:c.2140+3_2140+6del
NM_001353955.2:c.2140+3_2140+6del
NM_001353957.2:c.2092+3_2092+6del
NM_001353958.2:c.2092+3_2092+6del
NM_001353960.2:c.2089+3_2089+6del
NM_001353961.2:c.-283+3_-283+6del
NM_006920.6:c.2143+3_2143+6del
NR_148667.2:n.2529+3_2529+6del
NM_001165963.4:c.2176+3_2176+6del