Canonical Allele Identifier: CA16608927
Gene: CASK HGNC NCBI

Linked Data

ClinVar Variation Id: 392425
ClinVar RCV Id: RCV000419173
dbSNP Id: rs1057524485

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41569748T>G , CM000685.2:g.41569748T>G GRCh38
NC_000023.10:g.41429001T>G , CM000685.1:g.41429001T>G GRCh37
NC_000023.9:g.41313945T>G NCBI36
NG_016754.1:g.358287A>C
NG_016754.2:g.358287A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378154.3:c.1504-2A>C ENSP00000367396.2:n.1504-2A>C
ENST00000378158.6:c.1486-2A>C ENSP00000367400.2:n.1486-2A>C
ENST00000378163.7:c.1504-2A>C MANE Select ENSP00000367405.1:n.1504-2A>C
ENST00000378166.9:c.1486-2A>C ENSP00000367408.5:n.1486-2A>C
ENST00000378168.8:c.1522-2A>C ENSP00000367410.4:n.1522-2A>C
ENST00000378179.9:c.193-2A>C ENSP00000367421.4:n.193-2A>C
ENST00000421587.8:c.1504-2A>C ENSP00000400526.4:n.1504-2A>C
ENST00000442742.7:c.1486-2A>C ENSP00000398007.3:n.1486-2A>C
ENST00000472704.3:n.115-2A>C
ENST00000643043.2:c.949-2A>C ENSP00000493518.2:n.949-2A>C
ENST00000644219.1:c.1486-2A>C ENSP00000495357.1:n.1486-2A>C
ENST00000644347.1:c.1486-2A>C ENSP00000494183.1:n.1486-2A>C
ENST00000645566.1:c.1504-2A>C ENSP00000494788.1:n.1504-2A>C
ENST00000645937.2:n.1804-2A>C
ENST00000645986.2:c.1486-2A>C ENSP00000494409.2:n.1486-2A>C
ENST00000646087.2:c.931-2A>C ENSP00000495510.2:n.931-2A>C
ENST00000646120.2:c.1504-2A>C ENSP00000495291.2:n.1504-2A>C
ENST00000675354.1:c.1522-2A>C ENSP00000502315.1:n.1522-2A>C
ENST00000378154.1:c.1504-2A>C ENSP00000367396.1:n.1504-2A>C
ENST00000378158.5:c.1504-2A>C ENSP00000367400.1:n.1504-2A>C
ENST00000378163.5:c.1504-2A>C ENSP00000367405.1:n.1504-2A>C
ENST00000378166.8:c.1504-2A>C ENSP00000367408.4:n.1504-2A>C
ENST00000378179.7:c.349-2A>C ENSP00000367421.3:n.349-2A>C
ENST00000421587.6:c.1486-2A>C ENSP00000400526.2:n.1486-2A>C
ENST00000442742.6:c.1504-2A>C ENSP00000398007.2:n.1504-2A>C
ENST00000472704.1:n.115-2A>C
NM_001126054.2:c.1504-2A>C NP_001119526.1:n.1504-2A>C
NM_001126055.2:c.1486-2A>C NP_001119527.1:n.1486-2A>C
NM_003688.3:c.1504-2A>C NP_003679.2:n.1504-2A>C
XM_005272686.3:c.1486-2A>C XP_005272743.1:n.1486-2A>C
XM_006724566.2:c.1486-2A>C XP_006724629.1:n.1486-2A>C
XM_011543993.1:c.1504-2A>C XP_011542295.1:n.1504-2A>C
XM_011543994.1:c.1504-2A>C XP_011542296.1:n.1504-2A>C
XM_011543995.1:c.1504-2A>C XP_011542297.1:n.1504-2A>C
XM_011543996.1:c.1504-2A>C XP_011542298.1:n.1504-2A>C
XM_011543997.1:c.931-2A>C XP_011542299.1:n.931-2A>C
XM_005272686.4:c.1486-2A>C XP_005272743.1:n.1486-2A>C
XM_006724566.3:c.1486-2A>C XP_006724629.1:n.1486-2A>C
XM_011543993.2:c.1504-2A>C XP_011542295.1:n.1504-2A>C
XM_011543994.2:c.1504-2A>C XP_011542296.1:n.1504-2A>C
XM_011543995.2:c.1504-2A>C XP_011542297.1:n.1504-2A>C
XM_011543996.2:c.1504-2A>C XP_011542298.1:n.1504-2A>C
XM_011543997.3:c.931-2A>C XP_011542299.1:n.931-2A>C
XM_024452473.1:c.931-2A>C XP_024308241.1:n.931-2A>C
NM_001367721.1:c.1504-2A>C MANE Select NP_001354650.1:n.1504-2A>C