Canonical Allele Identifier: CA16621397
Gene: CASK HGNC NCBI

Linked Data

ClinVar Variation Id: 423552
ClinVar RCV Id: RCV000481153
dbSNP Id: rs1064796488

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41534937_41534939del , CM000685.2:g.41534937_41534939del GRCh38
NC_000023.10:g.41394190_41394192del , CM000685.1:g.41394190_41394192del GRCh37
NC_000023.9:g.41279134_41279136del NCBI36
NG_016754.1:g.393100_393102del
NG_016754.2:g.393100_393102del

Transcript Alleles

HGVS Amino-acid change
ENST00000378154.3:c.2143_2145del ENSP00000367396.2:p.Val715del
ENST00000378158.6:c.2140_2142del ENSP00000367400.2:p.Val714del
ENST00000378163.7:c.2194_2196del MANE Select ENSP00000367405.1:p.Val732del
ENST00000378166.9:c.2092_2094del ENSP00000367408.5:p.Val698del
ENST00000378168.8:c.2197_2199del ENSP00000367410.4:p.Val733del
ENST00000378179.9:c.814_816del ENSP00000367421.4:p.Val272del
ENST00000421587.8:c.2125_2127del ENSP00000400526.4:p.Val709del
ENST00000442742.7:c.2056_2058del ENSP00000398007.3:p.Val686del
ENST00000642499.1:n.973_975del
ENST00000644219.1:c.2176_2178del ENSP00000495357.1:p.Val726del
ENST00000644347.1:c.2107_2109del ENSP00000494183.1:p.Val703del
ENST00000645566.1:c.2179_2181del ENSP00000494788.1:p.Val727del
ENST00000645937.2:n.2425_2427del
ENST00000645986.2:c.2161_2163del ENSP00000494409.2:p.Val721del
ENST00000646087.2:c.1516_1518del ENSP00000495510.2:p.Val506del
ENST00000646120.2:c.2110_2112del ENSP00000495291.2:p.Val704del
ENST00000675354.1:c.2128_2130del ENSP00000502315.1:p.Val710del
ENST00000378158.5:c.2143_2145del ENSP00000367400.1:p.Val715del
ENST00000378163.5:c.2194_2196del ENSP00000367405.1:p.Val732del
ENST00000378166.8:c.2179_2181del ENSP00000367408.4:p.Val727del
ENST00000378168.6:c.559_561del ENSP00000367410.2:p.Val187del
ENST00000378179.7:c.970_972del ENSP00000367421.3:p.Val324del
ENST00000421587.6:c.2107_2109del ENSP00000400526.2:p.Val703del
ENST00000442742.6:c.2110_2112del ENSP00000398007.2:p.Val704del
NM_001126054.2:c.2110_2112del NP_001119526.1:p.Val704del
NM_001126055.2:c.2107_2109del NP_001119527.1:p.Val703del
NM_003688.3:c.2179_2181del NP_003679.2:p.Val727del
XM_005272686.3:c.2176_2178del XP_005272743.1:p.Val726del
XM_006724566.2:c.2071_2073del XP_006724629.1:p.Val691del
XM_011543993.1:c.2194_2196del XP_011542295.1:p.Val732del
XM_011543994.1:c.2158_2160del XP_011542296.1:p.Val720del
XM_011543995.1:c.2125_2127del XP_011542297.1:p.Val709del
XM_011543996.1:c.2089_2091del XP_011542298.1:p.Val697del
XM_011543997.1:c.1621_1623del XP_011542299.1:p.Val541del
XM_005272686.4:c.2176_2178del XP_005272743.1:p.Val726del
XM_006724566.3:c.2071_2073del XP_006724629.1:p.Val691del
XM_011543993.2:c.2194_2196del XP_011542295.1:p.Val732del
XM_011543994.2:c.2158_2160del XP_011542296.1:p.Val720del
XM_011543995.2:c.2125_2127del XP_011542297.1:p.Val709del
XM_011543996.2:c.2089_2091del XP_011542298.1:p.Val697del
XM_011543997.3:c.1621_1623del XP_011542299.1:p.Val541del
XM_024452473.1:c.1516_1518del XP_024308241.1:p.Val506del
NM_001367721.1:c.2194_2196del MANE Select NP_001354650.1:p.Val732del