Canonical Allele Identifier: CA2579589078

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41561595del , CM000685.2:g.41561595del	GRCh38
NC_000023.10:g.41420848del , CM000685.1:g.41420848del	GRCh37
NC_000023.9:g.41305792del	NCBI36
NG_016754.1:g.366441del
NG_016754.2:g.366441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.1633del	ENSP00000367396.2:p.Ala545LeufsTer?
ENST00000378158.6:c.1615del	ENSP00000367400.2:p.Ala539LeufsTer?
ENST00000378163.7:c.1633del MANE Select	ENSP00000367405.1:p.Ala545LeufsTer?
ENST00000378166.9:c.1615del	ENSP00000367408.5:p.Ala539LeufsTer?
ENST00000378168.8:c.1651del	ENSP00000367410.4:p.Ala551LeufsTer?
ENST00000378179.9:c.322del	ENSP00000367421.4:p.Ala108LeufsTer?
ENST00000421587.8:c.1633del	ENSP00000400526.4:p.Ala545LeufsTer?
ENST00000442742.7:c.1615del	ENSP00000398007.3:p.Ala539LeufsTer?
ENST00000472704.3:n.244del
ENST00000642584.1:n.1289del
ENST00000643043.2:c.1078del	ENSP00000493518.2:p.Ala360LeufsTer?
ENST00000644219.1:c.1615del	ENSP00000495357.1:p.Ala539LeufsTer?
ENST00000644347.1:c.1615del	ENSP00000494183.1:p.Ala539LeufsTer?
ENST00000645566.1:c.1633del	ENSP00000494788.1:p.Ala545LeufsTer?
ENST00000645937.2:n.1933del
ENST00000645986.2:c.1615del	ENSP00000494409.2:p.Ala539LeufsTer?
ENST00000646087.2:c.1060del	ENSP00000495510.2:p.Ala354LeufsTer?
ENST00000646120.2:c.1633del	ENSP00000495291.2:p.Ala545LeufsTer?
ENST00000675354.1:c.1651del	ENSP00000502315.1:p.Ala551LeufsTer?
ENST00000378154.1:c.1633del	ENSP00000367396.1:p.Ala545LeufsTer?
ENST00000378158.5:c.1633del	ENSP00000367400.1:p.Ala545LeufsTer?
ENST00000378163.5:c.1633del	ENSP00000367405.1:p.Ala545LeufsTer?
ENST00000378166.8:c.1633del	ENSP00000367408.4:p.Ala545LeufsTer?
ENST00000378168.6:c.34del	ENSP00000367410.2:p.Ala12LeufsTer?
ENST00000378179.7:c.478del	ENSP00000367421.3:p.Ala160LeufsTer?
ENST00000421587.6:c.1615del	ENSP00000400526.2:p.Ala539LeufsTer?
ENST00000442742.6:c.1633del	ENSP00000398007.2:p.Ala545LeufsTer?
ENST00000472704.1:n.244del
NM_001126054.2:c.1633del	NP_001119526.1:p.Ala545LeufsTer?
NM_001126055.2:c.1615del	NP_001119527.1:p.Ala539LeufsTer?
NM_003688.3:c.1633del	NP_003679.2:p.Ala545LeufsTer?
XM_005272686.3:c.1615del	XP_005272743.1:p.Ala539LeufsTer?
XM_006724566.2:c.1615del	XP_006724629.1:p.Ala539LeufsTer?
XM_011543993.1:c.1633del	XP_011542295.1:p.Ala545LeufsTer?
XM_011543994.1:c.1633del	XP_011542296.1:p.Ala545LeufsTer?
XM_011543995.1:c.1633del	XP_011542297.1:p.Ala545LeufsTer?
XM_011543996.1:c.1633del	XP_011542298.1:p.Ala545LeufsTer?
XM_011543997.1:c.1060del	XP_011542299.1:p.Ala354LeufsTer?
XM_005272686.4:c.1615del	XP_005272743.1:p.Ala539LeufsTer?
XM_006724566.3:c.1615del	XP_006724629.1:p.Ala539LeufsTer?
XM_011543993.2:c.1633del	XP_011542295.1:p.Ala545LeufsTer?
XM_011543994.2:c.1633del	XP_011542296.1:p.Ala545LeufsTer?
XM_011543995.2:c.1633del	XP_011542297.1:p.Ala545LeufsTer?
XM_011543996.2:c.1633del	XP_011542298.1:p.Ala545LeufsTer?
XM_011543997.3:c.1060del	XP_011542299.1:p.Ala354LeufsTer?
XM_024452473.1:c.1060del	XP_024308241.1:p.Ala354LeufsTer?
NM_001367721.1:c.1633del MANE Select	NP_001354650.1:p.Ala545LeufsTer?