Canonical Allele Identifier: CA891844437

Gene: CASK

Linked Data

• ClinVar Variation Id: 570810
• ClinVar RCV Id: RCV000691765 ; RCV001268340 ; RCV001788328
• dbSNP Id: rs1569306724
• MyVariant Identifiers: chrX:g.41420836_41420839del (hg19) ; chrX:g.41561583_41561586del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41561585_41561588del , CM000685.2:g.41561585_41561588del	GRCh38
NC_000023.10:g.41420838_41420841del , CM000685.1:g.41420838_41420841del	GRCh37
NC_000023.9:g.41305782_41305785del	NCBI36
NG_016754.1:g.366449_366452del
NG_016754.2:g.366449_366452del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378154.3:c.1641_1644del	ENSP00000367396.2:p.Thr548TrpfsTer?
ENST00000378158.6:c.1623_1626del	ENSP00000367400.2:p.Thr542TrpfsTer?
ENST00000378163.7:c.1641_1644del MANE Select	ENSP00000367405.1:p.Thr548TrpfsTer?
ENST00000378166.9:c.1623_1626del	ENSP00000367408.5:p.Thr542TrpfsTer?
ENST00000378168.8:c.1659_1662del	ENSP00000367410.4:p.Thr554TrpfsTer?
ENST00000378179.9:c.330_333del	ENSP00000367421.4:p.Thr111TrpfsTer?
ENST00000421587.8:c.1641_1644del	ENSP00000400526.4:p.Thr548TrpfsTer?
ENST00000442742.7:c.1623_1626del	ENSP00000398007.3:p.Thr542TrpfsTer?
ENST00000472704.3:n.252_255del
ENST00000642584.1:n.1297_1300del
ENST00000643043.2:c.1086_1089del	ENSP00000493518.2:p.Thr363TrpfsTer?
ENST00000644219.1:c.1623_1626del	ENSP00000495357.1:p.Thr542TrpfsTer?
ENST00000644347.1:c.1623_1626del	ENSP00000494183.1:p.Thr542TrpfsTer?
ENST00000645566.1:c.1641_1644del	ENSP00000494788.1:p.Thr548TrpfsTer?
ENST00000645937.2:n.1941_1944del
ENST00000645986.2:c.1623_1626del	ENSP00000494409.2:p.Thr542TrpfsTer?
ENST00000646087.2:c.1068_1071del	ENSP00000495510.2:p.Thr357TrpfsTer?
ENST00000646120.2:c.1641_1644del	ENSP00000495291.2:p.Thr548TrpfsTer?
ENST00000675354.1:c.1659_1662del	ENSP00000502315.1:p.Thr554TrpfsTer?
ENST00000378154.1:c.1641_1644del	ENSP00000367396.1:p.Thr548TrpfsTer?
ENST00000378158.5:c.1641_1644del	ENSP00000367400.1:p.Thr548TrpfsTer?
ENST00000378163.5:c.1641_1644del	ENSP00000367405.1:p.Thr548TrpfsTer?
ENST00000378166.8:c.1641_1644del	ENSP00000367408.4:p.Thr548TrpfsTer?
ENST00000378168.6:c.42_45del	ENSP00000367410.2:p.Thr15TrpfsTer?
ENST00000378179.7:c.486_489del	ENSP00000367421.3:p.Thr163TrpfsTer?
ENST00000421587.6:c.1623_1626del	ENSP00000400526.2:p.Thr542TrpfsTer?
ENST00000442742.6:c.1641_1644del	ENSP00000398007.2:p.Thr548TrpfsTer?
ENST00000472704.1:n.252_255del
NM_001126054.2:c.1641_1644del	NP_001119526.1:p.Thr548TrpfsTer?
NM_001126055.2:c.1623_1626del	NP_001119527.1:p.Thr542TrpfsTer?
NM_003688.3:c.1641_1644del	NP_003679.2:p.Thr548TrpfsTer?
XM_005272686.3:c.1623_1626del	XP_005272743.1:p.Thr542TrpfsTer?
XM_006724566.2:c.1623_1626del	XP_006724629.1:p.Thr542TrpfsTer?
XM_011543993.1:c.1641_1644del	XP_011542295.1:p.Thr548TrpfsTer?
XM_011543994.1:c.1641_1644del	XP_011542296.1:p.Thr548TrpfsTer?
XM_011543995.1:c.1641_1644del	XP_011542297.1:p.Thr548TrpfsTer?
XM_011543996.1:c.1641_1644del	XP_011542298.1:p.Thr548TrpfsTer?
XM_011543997.1:c.1068_1071del	XP_011542299.1:p.Thr357TrpfsTer?
XM_005272686.4:c.1623_1626del	XP_005272743.1:p.Thr542TrpfsTer?
XM_006724566.3:c.1623_1626del	XP_006724629.1:p.Thr542TrpfsTer?
XM_011543993.2:c.1641_1644del	XP_011542295.1:p.Thr548TrpfsTer?
XM_011543994.2:c.1641_1644del	XP_011542296.1:p.Thr548TrpfsTer?
XM_011543995.2:c.1641_1644del	XP_011542297.1:p.Thr548TrpfsTer?
XM_011543996.2:c.1641_1644del	XP_011542298.1:p.Thr548TrpfsTer?
XM_011543997.3:c.1068_1071del	XP_011542299.1:p.Thr357TrpfsTer?
XM_024452473.1:c.1068_1071del	XP_024308241.1:p.Thr357TrpfsTer?
NM_001367721.1:c.1641_1644del MANE Select	NP_001354650.1:p.Thr548TrpfsTer?