Canonical Allele Identifier: CA16621396

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531130G>C , CM000685.2:g.41531130G>C	GRCh38
NC_000023.10:g.41390383G>C , CM000685.1:g.41390383G>C	GRCh37
NC_000023.9:g.41275327G>C	NCBI36
NG_016754.1:g.396905C>G
NG_016754.2:g.396905C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378154.3:c.2346C>G	ENSP00000367396.2:p.Asp782Glu
ENST00000378158.6:c.2343C>G	ENSP00000367400.2:p.Asp781Glu
ENST00000378163.7:c.2397C>G MANE Select	ENSP00000367405.1:p.Asp799Glu
ENST00000378166.9:c.2295C>G	ENSP00000367408.5:p.Asp765Glu
ENST00000378168.8:c.2400C>G	ENSP00000367410.4:p.Asp800Glu
ENST00000378179.9:c.1017C>G	ENSP00000367421.4:p.Asp339Glu
ENST00000421587.8:c.2328C>G	ENSP00000400526.4:p.Asp776Glu
ENST00000442742.7:c.2259C>G	ENSP00000398007.3:p.Asp753Glu
ENST00000642499.1:n.1176C>G
ENST00000643733.1:c.169C>G
ENST00000644219.1:c.2379C>G	ENSP00000495357.1:p.Asp793Glu
ENST00000644347.1:c.2310C>G	ENSP00000494183.1:p.Asp770Glu
ENST00000645566.1:c.2382C>G	ENSP00000494788.1:p.Asp794Glu
ENST00000645937.2:n.2628C>G
ENST00000645986.2:c.2364C>G	ENSP00000494409.2:p.Asp788Glu
ENST00000646087.2:c.1719C>G	ENSP00000495510.2:p.Asp573Glu
ENST00000646120.2:c.2313C>G	ENSP00000495291.2:p.Asp771Glu
ENST00000675354.1:c.2331C>G	ENSP00000502315.1:p.Asp777Glu
ENST00000378158.5:c.2346C>G	ENSP00000367400.1:p.Asp782Glu
ENST00000378163.5:c.2397C>G	ENSP00000367405.1:p.Asp799Glu
ENST00000378166.8:c.2382C>G	ENSP00000367408.4:p.Asp794Glu
ENST00000378168.6:c.762C>G	ENSP00000367410.2:p.Asp254Glu
ENST00000378179.7:c.1173C>G	ENSP00000367421.3:p.Asp391Glu
ENST00000421587.6:c.2310C>G	ENSP00000400526.2:p.Asp770Glu
ENST00000442742.6:c.2313C>G	ENSP00000398007.2:p.Asp771Glu
NM_001126054.2:c.2313C>G	NP_001119526.1:p.Asp771Glu
NM_001126055.2:c.2310C>G	NP_001119527.1:p.Asp770Glu
NM_003688.3:c.2382C>G	NP_003679.2:p.Asp794Glu
XM_005272686.3:c.2379C>G	XP_005272743.1:p.Asp793Glu
XM_006724566.2:c.2274C>G	XP_006724629.1:p.Asp758Glu
XM_011543993.1:c.2397C>G	XP_011542295.1:p.Asp799Glu
XM_011543994.1:c.2361C>G	XP_011542296.1:p.Asp787Glu
XM_011543995.1:c.2328C>G	XP_011542297.1:p.Asp776Glu
XM_011543996.1:c.2292C>G	XP_011542298.1:p.Asp764Glu
XM_011543997.1:c.1824C>G	XP_011542299.1:p.Asp608Glu
XM_005272686.4:c.2379C>G	XP_005272743.1:p.Asp793Glu
XM_006724566.3:c.2274C>G	XP_006724629.1:p.Asp758Glu
XM_011543993.2:c.2397C>G	XP_011542295.1:p.Asp799Glu
XM_011543994.2:c.2361C>G	XP_011542296.1:p.Asp787Glu
XM_011543995.2:c.2328C>G	XP_011542297.1:p.Asp776Glu
XM_011543996.2:c.2292C>G	XP_011542298.1:p.Asp764Glu
XM_011543997.3:c.1824C>G	XP_011542299.1:p.Asp608Glu
XM_024452473.1:c.1719C>G	XP_024308241.1:p.Asp573Glu
NM_001367721.1:c.2397C>G MANE Select	NP_001354650.1:p.Asp799Glu