Canonical Allele Identifier: CA251314
Gene: CASK HGNC NCBI

Linked Data

ClinVar Variation Id: 210586
ClinVar RCV Id: RCV000194553
dbSNP Id: rs797045433

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41524010_41524011del , CM000685.2:g.41524010_41524011del GRCh38
NC_000023.10:g.41383263_41383264del , CM000685.1:g.41383263_41383264del GRCh37
NC_000023.9:g.41268207_41268208del NCBI36
NG_016754.1:g.404026_404027del
NG_016754.2:g.404026_404027del

Transcript Alleles

HGVS Amino-acid change
ENST00000378154.3:c.2495_2496del ENSP00000367396.2:p.Glu832ValfsTer19
ENST00000378158.6:c.2492_2493del ENSP00000367400.2:p.Glu831ValfsTer19
ENST00000378163.7:c.2546_2547del MANE Select ENSP00000367405.1:p.Glu849ValfsTer19
ENST00000378166.9:c.2444_2445del ENSP00000367408.5:p.Glu815ValfsTer19
ENST00000378168.8:c.2549_2550del ENSP00000367410.4:p.Glu850ValfsTer19
ENST00000378179.9:c.1166_1167del ENSP00000367421.4:p.Glu389ValfsTer19
ENST00000421587.8:c.2477_2478del ENSP00000400526.4:p.Glu826ValfsTer19
ENST00000442742.7:c.2408_2409del ENSP00000398007.3:p.Glu803ValfsTer19
ENST00000642499.1:n.1325_1326del
ENST00000642641.1:n.705_706del
ENST00000643733.1:c.318_319del
ENST00000644219.1:c.2528_2529del ENSP00000495357.1:p.Glu843ValfsTer19
ENST00000644347.1:c.2459_2460del ENSP00000494183.1:p.Glu820ValfsTer19
ENST00000645566.1:c.2531_2532del ENSP00000494788.1:p.Glu844ValfsTer19
ENST00000645937.2:n.2777_2778del
ENST00000645986.2:c.2633_2634del ENSP00000494409.2:p.Glu878ValfsTer19
ENST00000646087.2:c.1868_1869del ENSP00000495510.2:p.Glu623ValfsTer19
ENST00000646120.2:c.2462_2463del ENSP00000495291.2:p.Glu821ValfsTer19
ENST00000675354.1:c.2480_2481del ENSP00000502315.1:p.Glu827ValfsTer19
ENST00000378158.5:c.2495_2496del ENSP00000367400.1:p.Glu832ValfsTer19
ENST00000378163.5:c.2546_2547del ENSP00000367405.1:p.Glu849ValfsTer19
ENST00000378166.8:c.2531_2532del ENSP00000367408.4:p.Glu844ValfsTer19
ENST00000378168.6:c.911_912del ENSP00000367410.2:p.Glu304ValfsTer19
ENST00000378179.7:c.1322_1323del ENSP00000367421.3:p.Glu441ValfsTer19
ENST00000421587.6:c.2459_2460del ENSP00000400526.2:p.Glu820ValfsTer19
ENST00000442742.6:c.2462_2463del ENSP00000398007.2:p.Glu821ValfsTer19
NM_001126054.2:c.2462_2463del NP_001119526.1:p.Glu821ValfsTer19
NM_001126055.2:c.2459_2460del NP_001119527.1:p.Glu820ValfsTer19
NM_003688.3:c.2531_2532del NP_003679.2:p.Glu844ValfsTer19
XM_005272686.3:c.2528_2529del XP_005272743.1:p.Glu843ValfsTer19
XM_006724566.2:c.2423_2424del XP_006724629.1:p.Glu808ValfsTer19
XM_011543993.1:c.2546_2547del XP_011542295.1:p.Glu849ValfsTer19
XM_011543994.1:c.2510_2511del XP_011542296.1:p.Glu837ValfsTer19
XM_011543995.1:c.2477_2478del XP_011542297.1:p.Glu826ValfsTer19
XM_011543996.1:c.2441_2442del XP_011542298.1:p.Glu814ValfsTer19
XM_011543997.1:c.1973_1974del XP_011542299.1:p.Glu658ValfsTer19
XM_005272686.4:c.2528_2529del XP_005272743.1:p.Glu843ValfsTer19
XM_006724566.3:c.2423_2424del XP_006724629.1:p.Glu808ValfsTer19
XM_011543993.2:c.2546_2547del XP_011542295.1:p.Glu849ValfsTer19
XM_011543994.2:c.2510_2511del XP_011542296.1:p.Glu837ValfsTer19
XM_011543995.2:c.2477_2478del XP_011542297.1:p.Glu826ValfsTer19
XM_011543996.2:c.2441_2442del XP_011542298.1:p.Glu814ValfsTer19
XM_011543997.3:c.1973_1974del XP_011542299.1:p.Glu658ValfsTer19
XM_024452473.1:c.1868_1869del XP_024308241.1:p.Glu623ValfsTer19
NM_001367721.1:c.2546_2547del MANE Select NP_001354650.1:p.Glu849ValfsTer19