Canonical Allele Identifier: CA2580094441
Gene: MKS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58213787_58213788del , CM000679.2:g.58213787_58213788del GRCh38
NC_000017.10:g.56291148_56291149del , CM000679.1:g.56291148_56291149del GRCh37
NC_000017.9:g.53646147_53646148del NCBI36
NG_013032.1:g.10819_10820del , LRG_687:g.10819_10820del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313863.11:c.727_728del ENSP00000316631.6:p.Thr243GlyfsTer9
ENST00000393119.7:c.727_728del MANE Select ENSP00000376827.2:p.Thr243GlyfsTer9
ENST00000537529.7:c.298_299del ENSP00000442096.3:p.Thr100GlyfsTer9
ENST00000580127.6:c.727_728del ENSP00000462423.2:p.Thr243GlyfsTer9
ENST00000581761.6:c.727_728del ENSP00000462129.2:p.Thr243GlyfsTer9
ENST00000585134.2:c.727_728del ENSP00000463826.2:p.Thr243GlyfsTer9
ENST00000675753.2:c.*346_*347del ENSP00000502156.1:n.*346_*347del
ENST00000676787.1:c.598_599del ENSP00000503999.1:p.Thr200GlyfsTer9
ENST00000676975.1:c.592_593del ENSP00000503970.1:n.592_593del
ENST00000677076.1:n.2001_2002del
ENST00000677111.1:c.727_728del ENSP00000504282.1:p.Thr243GlyfsTer9
ENST00000677160.1:n.2001_2002del
ENST00000677416.1:n.752_753del
ENST00000677475.1:n.2004_2005del
ENST00000677486.1:c.*71_*72del ENSP00000503852.1:n.*71_*72del
ENST00000677546.1:c.*71_*72del ENSP00000504043.1:n.*71_*72del
ENST00000677709.1:n.752_753del
ENST00000678011.1:n.752_753del
ENST00000678211.1:n.2776_2777del
ENST00000678432.1:c.*346_*347del ENSP00000504452.1:n.*346_*347del
ENST00000678463.1:c.727_728del ENSP00000502984.1:p.Thr243GlyfsTer9
ENST00000678481.1:n.528_529del
ENST00000678568.1:c.*134_*135del ENSP00000504754.1:n.*134_*135del
ENST00000678641.1:c.*71_*72del ENSP00000503159.1:n.*71_*72del
ENST00000678928.1:n.2354_2355del
ENST00000679081.1:n.2743_2744del
ENST00000313863.10:c.727_728del ENSP00000316631.6:p.Thr243GlyfsTer9
ENST00000393119.6:c.727_728del ENSP00000376827.2:p.Thr243GlyfsTer9
ENST00000393120.6:c.*134_*135del ENSP00000376828.2:n.*134_*135del
ENST00000537529.6:c.697_698del ENSP00000442096.2:p.Thr233GlyfsTer9
ENST00000577824.5:c.204_205del
ENST00000581761.5:c.*134_*135del ENSP00000462129.1:n.*134_*135del
NM_001165927.1:c.697_698del , LRG_687t2:c.697_698del NP_001159399.1:p.Thr233GlyfsTer9
NM_017777.3:c.727_728del , LRG_687t1:c.727_728del NP_060247.2:p.Thr243GlyfsTer9
XM_005257483.3:c.727_728del XP_005257540.1:p.Thr243GlyfsTer9
XM_005257485.3:c.298_299del XP_005257542.1:p.Thr100GlyfsTer9
XM_005257486.3:c.118_119del XP_005257543.1:p.Thr40GlyfsTer9
XM_006721965.2:c.118_119del XP_006722028.1:p.Thr40GlyfsTer9
XM_011524957.1:c.736_737del XP_011523259.1:p.Thr246GlyfsTer9
XM_011524958.1:c.736_737del XP_011523260.1:p.Thr246GlyfsTer9
XM_011524959.1:c.736_737del XP_011523261.1:p.Thr246GlyfsTer9
XM_011524960.1:c.736_737del XP_011523262.1:p.Thr246GlyfsTer9
XR_934494.1:n.784_785del
NM_001321268.1:c.118_119del NP_001308197.1:p.Thr40GlyfsTer9
NM_001321269.1:c.727_728del NP_001308198.1:p.Thr243GlyfsTer9
NM_001330397.1:c.727_728del NP_001317326.1:p.Thr243GlyfsTer9
XM_005257485.4:c.298_299del XP_005257542.1:p.Thr100GlyfsTer9
XM_006721965.3:c.118_119del XP_006722028.1:p.Thr40GlyfsTer9
XM_011524957.2:c.736_737del XP_011523259.1:p.Thr246GlyfsTer9
XM_011524958.2:c.736_737del XP_011523260.1:p.Thr246GlyfsTer9
XM_011524959.2:c.736_737del XP_011523261.1:p.Thr246GlyfsTer9
XM_011524960.2:c.736_737del XP_011523262.1:p.Thr246GlyfsTer9
XM_017024804.2:c.727_728del XP_016880293.1:p.Thr243GlyfsTer9
XM_017024805.1:c.298_299del XP_016880294.1:p.Thr100GlyfsTer9
XR_002958042.1:n.781_782del
NM_001321268.2:c.118_119del NP_001308197.1:p.Thr40GlyfsTer9
NM_001321269.2:c.727_728del NP_001308198.1:p.Thr243GlyfsTer9
NM_001330397.2:c.727_728del NP_001317326.1:p.Thr243GlyfsTer9
NM_017777.4:c.727_728del MANE Select NP_060247.2:p.Thr243GlyfsTer9