Canonical Allele Identifier: CA915950941

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41636580_41636581dup , CM000685.2:g.41636580_41636581dup	GRCh38
NC_000023.10:g.41495833_41495834dup , CM000685.1:g.41495833_41495834dup	GRCh37
NC_000023.9:g.41380777_41380778dup	NCBI36
NG_016754.1:g.291455_291456dup
NG_016754.2:g.291455_291456dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001367721.1:c.913_914dup MANE Select	NP_001354650.1:p.Gly306ArgfsTer5
ENST00000378163.7:c.913_914dup MANE Select	ENSP00000367405.1:p.Gly306ArgfsTer5
NM_001126054.2:c.913_914dup	NP_001119526.1:p.Gly306ArgfsTer5
NM_001126055.2:c.913_914dup	NP_001119527.1:p.Gly306ArgfsTer5
NM_003688.3:c.913_914dup	NP_003679.2:p.Gly306ArgfsTer5
ENST00000378154.1:c.913_914dup	ENSP00000367396.1:p.Gly306ArgfsTer5
ENST00000378154.3:c.913_914dup	ENSP00000367396.2:p.Gly306ArgfsTer5
ENST00000378158.5:c.913_914dup	ENSP00000367400.1:p.Gly306ArgfsTer5
ENST00000378158.6:c.913_914dup	ENSP00000367400.2:p.Gly306ArgfsTer5
ENST00000378163.5:c.913_914dup	ENSP00000367405.1:p.Gly306ArgfsTer5
ENST00000378166.8:c.913_914dup	ENSP00000367408.4:p.Gly306ArgfsTer5
ENST00000378166.9:c.913_914dup	ENSP00000367408.5:p.Gly306ArgfsTer5
ENST00000378168.8:c.931_932dup	ENSP00000367410.4:p.Gly312ArgfsTer5
ENST00000421587.6:c.913_914dup	ENSP00000400526.2:p.Gly306ArgfsTer5
ENST00000421587.8:c.931_932dup	ENSP00000400526.4:p.Gly312ArgfsTer5
ENST00000442742.6:c.913_914dup	ENSP00000398007.2:p.Gly306ArgfsTer5
ENST00000442742.7:c.913_914dup	ENSP00000398007.3:p.Gly306ArgfsTer5
ENST00000469265.1:n.360_361dup
ENST00000643043.2:c.358_359dup	ENSP00000493518.2:p.Gly121ArgfsTer5
ENST00000643831.2:c.913_914dup	ENSP00000494388.2:p.Val306ArgfsTer?
ENST00000643853.1:n.627_628dup
ENST00000644219.1:c.913_914dup	ENSP00000495357.1:p.Gly306ArgfsTer5
ENST00000644347.1:c.913_914dup	ENSP00000494183.1:p.Gly306ArgfsTer5
ENST00000645566.1:c.913_914dup	ENSP00000494788.1:p.Gly306ArgfsTer5
ENST00000645986.2:c.913_914dup	ENSP00000494409.2:p.Gly306ArgfsTer5
ENST00000646087.2:c.358_359dup	ENSP00000495510.2:p.Gly121ArgfsTer5
ENST00000646120.2:c.913_914dup	ENSP00000495291.2:p.Gly306ArgfsTer5
ENST00000675354.1:c.931_932dup	ENSP00000502315.1:p.Gly312ArgfsTer5
XM_005272686.3:c.913_914dup	XP_005272743.1:p.Gly306ArgfsTer5
XM_005272686.4:c.913_914dup	XP_005272743.1:p.Gly306ArgfsTer5
XM_006724566.2:c.913_914dup	XP_006724629.1:p.Gly306ArgfsTer5
XM_006724566.3:c.913_914dup	XP_006724629.1:p.Gly306ArgfsTer5
XM_011543993.1:c.931_932dup	XP_011542295.1:p.Gly312ArgfsTer5
XM_011543993.2:c.931_932dup	XP_011542295.1:p.Gly312ArgfsTer5
XM_011543994.1:c.931_932dup	XP_011542296.1:p.Gly312ArgfsTer5
XM_011543994.2:c.931_932dup	XP_011542296.1:p.Gly312ArgfsTer5
XM_011543995.1:c.931_932dup	XP_011542297.1:p.Gly312ArgfsTer5
XM_011543995.2:c.931_932dup	XP_011542297.1:p.Gly312ArgfsTer5
XM_011543996.1:c.931_932dup	XP_011542298.1:p.Gly312ArgfsTer5
XM_011543996.2:c.931_932dup	XP_011542298.1:p.Gly312ArgfsTer5
XM_011543997.1:c.358_359dup	XP_011542299.1:p.Gly121ArgfsTer5
XM_011543997.3:c.358_359dup	XP_011542299.1:p.Gly121ArgfsTer5
XM_024452473.1:c.358_359dup	XP_024308241.1:p.Gly121ArgfsTer5