Canonical Allele Identifier: CA2579588848

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531010del , CM000685.2:g.41531010del	GRCh38
NC_000023.10:g.41390263del , CM000685.1:g.41390263del	GRCh37
NC_000023.9:g.41275207del	NCBI36
NG_016754.1:g.397025del
NG_016754.2:g.397025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2466del	ENSP00000367396.2:p.Gln823ArgfsTer3
ENST00000378158.6:c.2463del	ENSP00000367400.2:p.Gln822ArgfsTer3
ENST00000378163.7:c.2517del MANE Select	ENSP00000367405.1:p.Gln840ArgfsTer3
ENST00000378166.9:c.2415del	ENSP00000367408.5:p.Gln806ArgfsTer3
ENST00000378168.8:c.2520del	ENSP00000367410.4:p.Gln841ArgfsTer3
ENST00000378179.9:c.1137del	ENSP00000367421.4:p.Gln380ArgfsTer3
ENST00000421587.8:c.2448del	ENSP00000400526.4:p.Gln817ArgfsTer3
ENST00000442742.7:c.2379del	ENSP00000398007.3:p.Gln794ArgfsTer3
ENST00000642499.1:n.1296del
ENST00000643733.1:c.289del
ENST00000644219.1:c.2499del	ENSP00000495357.1:p.Gln834ArgfsTer3
ENST00000644347.1:c.2430del	ENSP00000494183.1:p.Gln811ArgfsTer3
ENST00000645566.1:c.2502del	ENSP00000494788.1:p.Gln835ArgfsTer3
ENST00000645937.2:n.2748del
ENST00000645986.2:c.2484del	ENSP00000494409.2:p.Gln829ArgfsTer12
ENST00000646087.2:c.1839del	ENSP00000495510.2:p.Gln614ArgfsTer3
ENST00000646120.2:c.2433del	ENSP00000495291.2:p.Gln812ArgfsTer3
ENST00000675354.1:c.2451del	ENSP00000502315.1:p.Gln818ArgfsTer3
ENST00000378158.5:c.2466del	ENSP00000367400.1:p.Gln823ArgfsTer3
ENST00000378163.5:c.2517del	ENSP00000367405.1:p.Gln840ArgfsTer3
ENST00000378166.8:c.2502del	ENSP00000367408.4:p.Gln835ArgfsTer3
ENST00000378168.6:c.882del	ENSP00000367410.2:p.Gln295ArgfsTer3
ENST00000378179.7:c.1293del	ENSP00000367421.3:p.Gln432ArgfsTer3
ENST00000421587.6:c.2430del	ENSP00000400526.2:p.Gln811ArgfsTer3
ENST00000442742.6:c.2433del	ENSP00000398007.2:p.Gln812ArgfsTer3
NM_001126054.2:c.2433del	NP_001119526.1:p.Gln812ArgfsTer3
NM_001126055.2:c.2430del	NP_001119527.1:p.Gln811ArgfsTer3
NM_003688.3:c.2502del	NP_003679.2:p.Gln835ArgfsTer3
XM_005272686.3:c.2499del	XP_005272743.1:p.Gln834ArgfsTer3
XM_006724566.2:c.2394del	XP_006724629.1:p.Gln799ArgfsTer3
XM_011543993.1:c.2517del	XP_011542295.1:p.Gln840ArgfsTer3
XM_011543994.1:c.2481del	XP_011542296.1:p.Gln828ArgfsTer3
XM_011543995.1:c.2448del	XP_011542297.1:p.Gln817ArgfsTer3
XM_011543996.1:c.2412del	XP_011542298.1:p.Gln805ArgfsTer3
XM_011543997.1:c.1944del	XP_011542299.1:p.Gln649ArgfsTer3
XM_005272686.4:c.2499del	XP_005272743.1:p.Gln834ArgfsTer3
XM_006724566.3:c.2394del	XP_006724629.1:p.Gln799ArgfsTer3
XM_011543993.2:c.2517del	XP_011542295.1:p.Gln840ArgfsTer3
XM_011543994.2:c.2481del	XP_011542296.1:p.Gln828ArgfsTer3
XM_011543995.2:c.2448del	XP_011542297.1:p.Gln817ArgfsTer3
XM_011543996.2:c.2412del	XP_011542298.1:p.Gln805ArgfsTer3
XM_011543997.3:c.1944del	XP_011542299.1:p.Gln649ArgfsTer3
XM_024452473.1:c.1839del	XP_024308241.1:p.Gln614ArgfsTer3
NM_001367721.1:c.2517del MANE Select	NP_001354650.1:p.Gln840ArgfsTer3