Canonical Allele Identifier: CA2425947670

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531024G= , CM000685.2:g.41531024G=	GRCh38
NC_000023.10:g.41390277G= , CM000685.1:g.41390277G=	GRCh37
NC_000023.9:g.41275221G=	NCBI36
NG_016754.1:g.397011C=
NG_016754.2:g.397011C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2452C=	ENSP00000367396.2:p.Leu818=
ENST00000378158.6:c.2449C=	ENSP00000367400.2:p.Leu817=
ENST00000378163.7:c.2503C= MANE Select	ENSP00000367405.1:p.Leu835=
ENST00000378166.9:c.2401C=	ENSP00000367408.5:p.Leu801=
ENST00000378168.8:c.2506C=	ENSP00000367410.4:p.Leu836=
ENST00000378179.9:c.1123C=	ENSP00000367421.4:p.Leu375=
ENST00000421587.8:c.2434C=	ENSP00000400526.4:p.Leu812=
ENST00000442742.7:c.2365C=	ENSP00000398007.3:p.Leu789=
ENST00000642499.1:n.1282C=
ENST00000643733.1:c.275C=
ENST00000644219.1:c.2485C=	ENSP00000495357.1:p.Leu829=
ENST00000644347.1:c.2416C=	ENSP00000494183.1:p.Leu806=
ENST00000645566.1:c.2488C=	ENSP00000494788.1:p.Leu830=
ENST00000645937.2:n.2734C=
ENST00000645986.2:c.2470C=	ENSP00000494409.2:p.Leu824=
ENST00000646087.2:c.1825C=	ENSP00000495510.2:p.Leu609=
ENST00000646120.2:c.2419C=	ENSP00000495291.2:p.Leu807=
ENST00000675354.1:c.2437C=	ENSP00000502315.1:p.Leu813=
ENST00000378158.5:c.2452C=	ENSP00000367400.1:p.Leu818=
ENST00000378163.5:c.2503C=	ENSP00000367405.1:p.Leu835=
ENST00000378166.8:c.2488C=	ENSP00000367408.4:p.Leu830=
ENST00000378168.6:c.868C=	ENSP00000367410.2:p.Leu290=
ENST00000378179.7:c.1279C=	ENSP00000367421.3:p.Leu427=
ENST00000421587.6:c.2416C=	ENSP00000400526.2:p.Leu806=
ENST00000442742.6:c.2419C=	ENSP00000398007.2:p.Leu807=
NM_001126054.2:c.2419C=	NP_001119526.1:p.Leu807=
NM_001126055.2:c.2416C=	NP_001119527.1:p.Leu806=
NM_003688.3:c.2488C=	NP_003679.2:p.Leu830=
XM_005272686.3:c.2485C=	XP_005272743.1:p.Leu829=
XM_006724566.2:c.2380C=	XP_006724629.1:p.Leu794=
XM_011543993.1:c.2503C=	XP_011542295.1:p.Leu835=
XM_011543994.1:c.2467C=	XP_011542296.1:p.Leu823=
XM_011543995.1:c.2434C=	XP_011542297.1:p.Leu812=
XM_011543996.1:c.2398C=	XP_011542298.1:p.Leu800=
XM_011543997.1:c.1930C=	XP_011542299.1:p.Leu644=
XM_005272686.4:c.2485C=	XP_005272743.1:p.Leu829=
XM_006724566.3:c.2380C=	XP_006724629.1:p.Leu794=
XM_011543993.2:c.2503C=	XP_011542295.1:p.Leu835=
XM_011543994.2:c.2467C=	XP_011542296.1:p.Leu823=
XM_011543995.2:c.2434C=	XP_011542297.1:p.Leu812=
XM_011543996.2:c.2398C=	XP_011542298.1:p.Leu800=
XM_011543997.3:c.1930C=	XP_011542299.1:p.Leu644=
XM_024452473.1:c.1825C=	XP_024308241.1:p.Leu609=
NM_001367721.1:c.2503C= MANE Select	NP_001354650.1:p.Leu835=