Canonical Allele Identifier: CA2425947680

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531045C= , CM000685.2:g.41531045C=	GRCh38
NC_000023.10:g.41390298C= , CM000685.1:g.41390298C=	GRCh37
NC_000023.9:g.41275242C=	NCBI36
NG_016754.1:g.396990G=
NG_016754.2:g.396990G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2431G=	ENSP00000367396.2:p.Glu811=
ENST00000378158.6:c.2428G=	ENSP00000367400.2:p.Glu810=
ENST00000378163.7:c.2482G= MANE Select	ENSP00000367405.1:p.Glu828=
ENST00000378166.9:c.2380G=	ENSP00000367408.5:p.Glu794=
ENST00000378168.8:c.2485G=	ENSP00000367410.4:p.Glu829=
ENST00000378179.9:c.1102G=	ENSP00000367421.4:p.Glu368=
ENST00000421587.8:c.2413G=	ENSP00000400526.4:p.Glu805=
ENST00000442742.7:c.2344G=	ENSP00000398007.3:p.Glu782=
ENST00000642499.1:n.1261G=
ENST00000643733.1:c.254G=
ENST00000644219.1:c.2464G=	ENSP00000495357.1:p.Glu822=
ENST00000644347.1:c.2395G=	ENSP00000494183.1:p.Glu799=
ENST00000645566.1:c.2467G=	ENSP00000494788.1:p.Glu823=
ENST00000645937.2:n.2713G=
ENST00000645986.2:c.2449G=	ENSP00000494409.2:p.Glu817=
ENST00000646087.2:c.1804G=	ENSP00000495510.2:p.Glu602=
ENST00000646120.2:c.2398G=	ENSP00000495291.2:p.Glu800=
ENST00000675354.1:c.2416G=	ENSP00000502315.1:p.Glu806=
ENST00000378158.5:c.2431G=	ENSP00000367400.1:p.Glu811=
ENST00000378163.5:c.2482G=	ENSP00000367405.1:p.Glu828=
ENST00000378166.8:c.2467G=	ENSP00000367408.4:p.Glu823=
ENST00000378168.6:c.847G=	ENSP00000367410.2:p.Glu283=
ENST00000378179.7:c.1258G=	ENSP00000367421.3:p.Glu420=
ENST00000421587.6:c.2395G=	ENSP00000400526.2:p.Glu799=
ENST00000442742.6:c.2398G=	ENSP00000398007.2:p.Glu800=
NM_001126054.2:c.2398G=	NP_001119526.1:p.Glu800=
NM_001126055.2:c.2395G=	NP_001119527.1:p.Glu799=
NM_003688.3:c.2467G=	NP_003679.2:p.Glu823=
XM_005272686.3:c.2464G=	XP_005272743.1:p.Glu822=
XM_006724566.2:c.2359G=	XP_006724629.1:p.Glu787=
XM_011543993.1:c.2482G=	XP_011542295.1:p.Glu828=
XM_011543994.1:c.2446G=	XP_011542296.1:p.Glu816=
XM_011543995.1:c.2413G=	XP_011542297.1:p.Glu805=
XM_011543996.1:c.2377G=	XP_011542298.1:p.Glu793=
XM_011543997.1:c.1909G=	XP_011542299.1:p.Glu637=
XM_005272686.4:c.2464G=	XP_005272743.1:p.Glu822=
XM_006724566.3:c.2359G=	XP_006724629.1:p.Glu787=
XM_011543993.2:c.2482G=	XP_011542295.1:p.Glu828=
XM_011543994.2:c.2446G=	XP_011542296.1:p.Glu816=
XM_011543995.2:c.2413G=	XP_011542297.1:p.Glu805=
XM_011543996.2:c.2377G=	XP_011542298.1:p.Glu793=
XM_011543997.3:c.1909G=	XP_011542299.1:p.Glu637=
XM_024452473.1:c.1804G=	XP_024308241.1:p.Glu602=
NM_001367721.1:c.2482G= MANE Select	NP_001354650.1:p.Glu828=