Canonical Allele Identifier: CA2425947693

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531094G= , CM000685.2:g.41531094G=	GRCh38
NC_000023.10:g.41390347G= , CM000685.1:g.41390347G=	GRCh37
NC_000023.9:g.41275291G=	NCBI36
NG_016754.1:g.396941C=
NG_016754.2:g.396941C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2382C=	ENSP00000367396.2:p.His794=
ENST00000378158.6:c.2379C=	ENSP00000367400.2:p.His793=
ENST00000378163.7:c.2433C= MANE Select	ENSP00000367405.1:p.His811=
ENST00000378166.9:c.2331C=	ENSP00000367408.5:p.His777=
ENST00000378168.8:c.2436C=	ENSP00000367410.4:p.His812=
ENST00000378179.9:c.1053C=	ENSP00000367421.4:p.His351=
ENST00000421587.8:c.2364C=	ENSP00000400526.4:p.His788=
ENST00000442742.7:c.2295C=	ENSP00000398007.3:p.His765=
ENST00000642499.1:n.1212C=
ENST00000643733.1:c.205C=
ENST00000644219.1:c.2415C=	ENSP00000495357.1:p.His805=
ENST00000644347.1:c.2346C=	ENSP00000494183.1:p.His782=
ENST00000645566.1:c.2418C=	ENSP00000494788.1:p.His806=
ENST00000645937.2:n.2664C=
ENST00000645986.2:c.2400C=	ENSP00000494409.2:p.His800=
ENST00000646087.2:c.1755C=	ENSP00000495510.2:p.His585=
ENST00000646120.2:c.2349C=	ENSP00000495291.2:p.His783=
ENST00000675354.1:c.2367C=	ENSP00000502315.1:p.His789=
ENST00000378158.5:c.2382C=	ENSP00000367400.1:p.His794=
ENST00000378163.5:c.2433C=	ENSP00000367405.1:p.His811=
ENST00000378166.8:c.2418C=	ENSP00000367408.4:p.His806=
ENST00000378168.6:c.798C=	ENSP00000367410.2:p.His266=
ENST00000378179.7:c.1209C=	ENSP00000367421.3:p.His403=
ENST00000421587.6:c.2346C=	ENSP00000400526.2:p.His782=
ENST00000442742.6:c.2349C=	ENSP00000398007.2:p.His783=
NM_001126054.2:c.2349C=	NP_001119526.1:p.His783=
NM_001126055.2:c.2346C=	NP_001119527.1:p.His782=
NM_003688.3:c.2418C=	NP_003679.2:p.His806=
XM_005272686.3:c.2415C=	XP_005272743.1:p.His805=
XM_006724566.2:c.2310C=	XP_006724629.1:p.His770=
XM_011543993.1:c.2433C=	XP_011542295.1:p.His811=
XM_011543994.1:c.2397C=	XP_011542296.1:p.His799=
XM_011543995.1:c.2364C=	XP_011542297.1:p.His788=
XM_011543996.1:c.2328C=	XP_011542298.1:p.His776=
XM_011543997.1:c.1860C=	XP_011542299.1:p.His620=
XM_005272686.4:c.2415C=	XP_005272743.1:p.His805=
XM_006724566.3:c.2310C=	XP_006724629.1:p.His770=
XM_011543993.2:c.2433C=	XP_011542295.1:p.His811=
XM_011543994.2:c.2397C=	XP_011542296.1:p.His799=
XM_011543995.2:c.2364C=	XP_011542297.1:p.His788=
XM_011543996.2:c.2328C=	XP_011542298.1:p.His776=
XM_011543997.3:c.1860C=	XP_011542299.1:p.His620=
XM_024452473.1:c.1755C=	XP_024308241.1:p.His585=
NM_001367721.1:c.2433C= MANE Select	NP_001354650.1:p.His811=