Canonical Allele Identifier: CA251016
Gene: CASK HGNC NCBI

Linked Data

ClinVar Variation Id: 158071
ClinVar RCV Id: RCV000145399
dbSNP Id: rs587783362
MyVariant Identifiers: chrX:g.41782215_41782222del (hg19) chrX:g.41922962_41922969del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41922962_41922969del , CM000685.2:g.41922962_41922969del GRCh38
NC_000023.10:g.41782215_41782222del , CM000685.1:g.41782215_41782222del GRCh37
NC_000023.9:g.41667159_41667166del NCBI36
NG_016754.1:g.5066_5073del
NG_016754.2:g.5066_5073del

Transcript Alleles

HGVS Amino-acid change
ENST00000378154.3:c.20_27del ENSP00000367396.2:p.Leu7ArgfsTer?
ENST00000378158.6:c.20_27del ENSP00000367400.2:p.Leu7ArgfsTer?
ENST00000378163.7:c.20_27del MANE Select ENSP00000367405.1:p.Leu7ArgfsTer?
ENST00000378166.9:c.20_27del ENSP00000367408.5:p.Leu7ArgfsTer?
ENST00000378168.8:c.20_27del ENSP00000367410.4:p.Leu7ArgfsTer?
ENST00000421587.8:c.20_27del ENSP00000400526.4:p.Leu7ArgfsTer?
ENST00000442742.7:c.20_27del ENSP00000398007.3:p.Leu7ArgfsTer?
ENST00000643831.2:c.20_27del ENSP00000494388.2:p.Leu7ArgfsTer?
ENST00000644219.1:c.20_27del ENSP00000495357.1:p.Leu7ArgfsTer?
ENST00000644347.1:c.20_27del ENSP00000494183.1:p.Leu7ArgfsTer?
ENST00000644770.1:c.20_27del ENSP00000494144.1:p.Leu7ArgfsTer?
ENST00000645566.1:c.20_27del ENSP00000494788.1:p.Leu7ArgfsTer?
ENST00000645986.2:c.20_27del ENSP00000494409.2:p.Leu7ArgfsTer?
ENST00000646120.2:c.20_27del ENSP00000495291.2:p.Leu7ArgfsTer?
ENST00000647118.2:c.20_27del ENSP00000493700.1:p.Leu7ArgfsTer?
ENST00000675354.1:c.20_27del ENSP00000502315.1:p.Leu7ArgfsTer?
ENST00000378154.1:c.20_27del ENSP00000367396.1:p.Leu7ArgfsTer?
ENST00000378158.5:c.20_27del ENSP00000367400.1:p.Leu7ArgfsTer?
ENST00000378163.5:c.20_27del ENSP00000367405.1:p.Leu7ArgfsTer?
ENST00000378166.8:c.20_27del ENSP00000367408.4:p.Leu7ArgfsTer?
ENST00000421587.6:c.20_27del ENSP00000400526.2:p.Leu7ArgfsTer?
ENST00000442742.6:c.20_27del ENSP00000398007.2:p.Leu7ArgfsTer?
ENST00000468986.6:n.47_54del
ENST00000477823.1:n.14_21del
NM_001126054.2:c.20_27del NP_001119526.1:p.Leu7ArgfsTer?
NM_001126055.2:c.20_27del NP_001119527.1:p.Leu7ArgfsTer?
NM_003688.3:c.20_27del NP_003679.2:p.Leu7ArgfsTer?
XM_005272686.3:c.20_27del XP_005272743.1:p.Leu7ArgfsTer?
XM_006724566.2:c.20_27del XP_006724629.1:p.Leu7ArgfsTer?
XM_011543993.1:c.20_27del XP_011542295.1:p.Leu7ArgfsTer?
XM_011543994.1:c.20_27del XP_011542296.1:p.Leu7ArgfsTer?
XM_011543995.1:c.20_27del XP_011542297.1:p.Leu7ArgfsTer?
XM_011543996.1:c.20_27del XP_011542298.1:p.Leu7ArgfsTer?
XM_005272686.4:c.20_27del XP_005272743.1:p.Leu7ArgfsTer?
XM_006724566.3:c.20_27del XP_006724629.1:p.Leu7ArgfsTer?
XM_011543993.2:c.20_27del XP_011542295.1:p.Leu7ArgfsTer?
XM_011543994.2:c.20_27del XP_011542296.1:p.Leu7ArgfsTer?
XM_011543995.2:c.20_27del XP_011542297.1:p.Leu7ArgfsTer?
XM_011543996.2:c.20_27del XP_011542298.1:p.Leu7ArgfsTer?
NM_001367721.1:c.20_27del MANE Select NP_001354650.1:p.Leu7ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'