Canonical Allele Identifier: CA10390035

Gene: CASK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41531256G>C , CM000685.2:g.41531256G>C	GRCh38
NC_000023.10:g.41390509G>C , CM000685.1:g.41390509G>C	GRCh37
NC_000023.9:g.41275453G>C	NCBI36
NG_016754.1:g.396779C>G
NG_016754.2:g.396779C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001367721.1:c.2318-47C>G MANE Select	NP_001354650.1:n.2318-47C>G
ENST00000378163.7:c.2318-47C>G MANE Select	ENSP00000367405.1:n.2318-47C>G
NM_001126054.2:c.2234-47C>G	NP_001119526.1:n.2234-47C>G
NM_001126055.2:c.2231-47C>G	NP_001119527.1:n.2231-47C>G
NM_003688.3:c.2303-47C>G	NP_003679.2:n.2303-47C>G
ENST00000378154.3:c.2267-47C>G	ENSP00000367396.2:n.2267-47C>G
ENST00000378158.5:c.2267-47C>G	ENSP00000367400.1:n.2267-47C>G
ENST00000378158.6:c.2264-47C>G	ENSP00000367400.2:n.2264-47C>G
ENST00000378163.5:c.2318-47C>G	ENSP00000367405.1:n.2318-47C>G
ENST00000378166.8:c.2303-47C>G	ENSP00000367408.4:n.2303-47C>G
ENST00000378166.9:c.2216-47C>G	ENSP00000367408.5:n.2216-47C>G
ENST00000378168.6:c.683-47C>G	ENSP00000367410.2:n.683-47C>G
ENST00000378168.8:c.2321-47C>G	ENSP00000367410.4:n.2321-47C>G
ENST00000378179.7:c.1094-47C>G	ENSP00000367421.3:n.1094-47C>G
ENST00000378179.9:c.938-47C>G	ENSP00000367421.4:n.938-47C>G
ENST00000421587.6:c.2231-47C>G	ENSP00000400526.2:n.2231-47C>G
ENST00000421587.8:c.2249-47C>G	ENSP00000400526.4:n.2249-47C>G
ENST00000442742.6:c.2234-47C>G	ENSP00000398007.2:n.2234-47C>G
ENST00000442742.7:c.2180-47C>G	ENSP00000398007.3:n.2180-47C>G
ENST00000642499.1:n.1097-47C>G
ENST00000643733.1:c.90-47C>G
ENST00000644219.1:c.2300-47C>G	ENSP00000495357.1:n.2300-47C>G
ENST00000644347.1:c.2231-47C>G	ENSP00000494183.1:n.2231-47C>G
ENST00000645566.1:c.2303-47C>G	ENSP00000494788.1:n.2303-47C>G
ENST00000645937.2:n.2549-47C>G
ENST00000645986.2:c.2285-47C>G	ENSP00000494409.2:n.2285-47C>G
ENST00000646087.2:c.1640-47C>G	ENSP00000495510.2:n.1640-47C>G
ENST00000646120.2:c.2234-47C>G	ENSP00000495291.2:n.2234-47C>G
ENST00000675354.1:c.2252-47C>G	ENSP00000502315.1:n.2252-47C>G
XM_005272686.3:c.2300-47C>G	XP_005272743.1:n.2300-47C>G
XM_005272686.4:c.2300-47C>G	XP_005272743.1:n.2300-47C>G
XM_006724566.2:c.2195-47C>G	XP_006724629.1:n.2195-47C>G
XM_006724566.3:c.2195-47C>G	XP_006724629.1:n.2195-47C>G
XM_011543993.1:c.2318-47C>G	XP_011542295.1:n.2318-47C>G
XM_011543993.2:c.2318-47C>G	XP_011542295.1:n.2318-47C>G
XM_011543994.1:c.2282-47C>G	XP_011542296.1:n.2282-47C>G
XM_011543994.2:c.2282-47C>G	XP_011542296.1:n.2282-47C>G
XM_011543995.1:c.2249-47C>G	XP_011542297.1:n.2249-47C>G
XM_011543995.2:c.2249-47C>G	XP_011542297.1:n.2249-47C>G
XM_011543996.1:c.2213-47C>G	XP_011542298.1:n.2213-47C>G
XM_011543996.2:c.2213-47C>G	XP_011542298.1:n.2213-47C>G
XM_011543997.1:c.1745-47C>G	XP_011542299.1:n.1745-47C>G
XM_011543997.3:c.1745-47C>G	XP_011542299.1:n.1745-47C>G
XM_024452473.1:c.1640-47C>G	XP_024308241.1:n.1640-47C>G