Canonical Allele Identifier: CA2425944505

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41520451G= , CM000685.2:g.41520451G=	GRCh38
NC_000023.10:g.41379704G= , CM000685.1:g.41379704G=	GRCh37
NC_000023.9:g.41264648G=	NCBI36
NG_016754.1:g.407584C=
NG_016754.2:g.407584C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2699C=	ENSP00000367396.2:p.Pro900=
ENST00000378158.6:c.2696C=	ENSP00000367400.2:p.Pro899=
ENST00000378163.7:c.2750C= MANE Select	ENSP00000367405.1:p.Pro917=
ENST00000378166.9:c.2648C=	ENSP00000367408.5:p.Pro883=
ENST00000378168.8:c.2753C=	ENSP00000367410.4:p.Pro918=
ENST00000378179.9:c.1370C=	ENSP00000367421.4:p.Pro457=
ENST00000421587.8:c.2681C=	ENSP00000400526.4:p.Pro894=
ENST00000442742.7:c.2612C=	ENSP00000398007.3:p.Pro871=
ENST00000642499.1:n.1529C=
ENST00000642641.1:n.909C=
ENST00000643733.1:c.549C=
ENST00000644219.1:c.2732C=	ENSP00000495357.1:p.Pro911=
ENST00000644347.1:c.2663C=	ENSP00000494183.1:p.Pro888=
ENST00000645566.1:c.2735C=	ENSP00000494788.1:p.Pro912=
ENST00000645937.2:n.2981C=
ENST00000645986.2:c.2837C=	ENSP00000494409.2:p.Pro946=
ENST00000646087.2:c.2072C=	ENSP00000495510.2:p.Pro691=
ENST00000646120.2:c.2666C=	ENSP00000495291.2:p.Pro889=
ENST00000675354.1:c.2684C=	ENSP00000502315.1:p.Pro895=
ENST00000378158.5:c.2699C=	ENSP00000367400.1:p.Pro900=
ENST00000378163.5:c.2750C=	ENSP00000367405.1:p.Pro917=
ENST00000378166.8:c.2735C=	ENSP00000367408.4:p.Pro912=
ENST00000378168.6:c.1115C=	ENSP00000367410.2:p.Pro372=
ENST00000378179.7:c.1526C=	ENSP00000367421.3:p.Pro509=
ENST00000421587.6:c.2663C=	ENSP00000400526.2:p.Pro888=
ENST00000442742.6:c.2666C=	ENSP00000398007.2:p.Pro889=
NM_001126054.2:c.2666C=	NP_001119526.1:p.Pro889=
NM_001126055.2:c.2663C=	NP_001119527.1:p.Pro888=
NM_003688.3:c.2735C=	NP_003679.2:p.Pro912=
XM_005272686.3:c.2732C=	XP_005272743.1:p.Pro911=
XM_006724566.2:c.2627C=	XP_006724629.1:p.Pro876=
XM_011543993.1:c.2750C=	XP_011542295.1:p.Pro917=
XM_011543994.1:c.2714C=	XP_011542296.1:p.Pro905=
XM_011543995.1:c.2681C=	XP_011542297.1:p.Pro894=
XM_011543996.1:c.2645C=	XP_011542298.1:p.Pro882=
XM_011543997.1:c.2177C=	XP_011542299.1:p.Pro726=
XM_005272686.4:c.2732C=	XP_005272743.1:p.Pro911=
XM_006724566.3:c.2627C=	XP_006724629.1:p.Pro876=
XM_011543993.2:c.2750C=	XP_011542295.1:p.Pro917=
XM_011543994.2:c.2714C=	XP_011542296.1:p.Pro905=
XM_011543995.2:c.2681C=	XP_011542297.1:p.Pro894=
XM_011543996.2:c.2645C=	XP_011542298.1:p.Pro882=
XM_011543997.3:c.2177C=	XP_011542299.1:p.Pro726=
XM_024452473.1:c.2072C=	XP_024308241.1:p.Pro691=
NM_001367721.1:c.2750C= MANE Select	NP_001354650.1:p.Pro917=