Canonical Allele Identifier: CA626729919
Gene: MKS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58212425_58212428del , CM000679.2:g.58212425_58212428del GRCh38
NC_000017.10:g.56289786_56289789del , CM000679.1:g.56289786_56289789del GRCh37
NC_000017.9:g.53644785_53644788del NCBI36
NG_013032.1:g.12181_12184del , LRG_687:g.12181_12184del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313863.11:c.868_871del ENSP00000316631.6:p.Arg290ThrfsTer9
ENST00000393119.7:c.868_871del MANE Select ENSP00000376827.2:p.Arg290ThrfsTer9
ENST00000537529.7:c.439_442del ENSP00000442096.3:p.Arg147ThrfsTer9
ENST00000580127.6:c.868_871del ENSP00000462423.2:p.Arg290ThrfsTer9
ENST00000581761.6:c.868_871del ENSP00000462129.2:p.Arg290ThrfsTer9
ENST00000585134.2:c.868_871del ENSP00000463826.2:p.Arg290ThrfsTer9
ENST00000675753.2:c.*487_*490del ENSP00000502156.1:n.*487_*490del
ENST00000676787.1:c.739_742del ENSP00000503999.1:p.Arg247ThrfsTer9
ENST00000676975.1:c.733_736del ENSP00000503970.1:n.733_736del
ENST00000677076.1:n.2142_2145del
ENST00000677111.1:c.868_871del ENSP00000504282.1:p.Arg290ThrfsTer9
ENST00000677160.1:n.2142_2145del
ENST00000677416.1:n.893_896del
ENST00000677475.1:n.2819_2822del
ENST00000677486.1:c.*212_*215del ENSP00000503852.1:n.*212_*215del
ENST00000677546.1:c.*212_*215del ENSP00000504043.1:n.*212_*215del
ENST00000677709.1:n.893_896del
ENST00000678011.1:n.893_896del
ENST00000678211.1:n.3464_3467del
ENST00000678432.1:c.*487_*490del ENSP00000504452.1:n.*487_*490del
ENST00000678463.1:c.868_871del ENSP00000502984.1:p.Arg290ThrfsTer9
ENST00000678481.1:n.669_672del
ENST00000678568.1:c.*275_*278del ENSP00000504754.1:n.*275_*278del
ENST00000678641.1:c.*212_*215del ENSP00000503159.1:n.*212_*215del
ENST00000678928.1:n.2495_2498del
ENST00000679081.1:n.3431_3434del
ENST00000313863.10:c.868_871del ENSP00000316631.6:p.Arg290ThrfsTer9
ENST00000393119.6:c.868_871del ENSP00000376827.2:p.Arg290ThrfsTer9
ENST00000393120.6:c.*275_*278del ENSP00000376828.2:n.*275_*278del
ENST00000537529.6:c.838_841del ENSP00000442096.2:p.Arg280ThrfsTer9
ENST00000577824.5:c.345_348del
ENST00000581761.5:c.*275_*278del ENSP00000462129.1:n.*275_*278del
ENST00000585134.1:c.91_94del ENSP00000463826.1:p.Arg31ThrfsTer9
NM_001165927.1:c.838_841del , LRG_687t2:c.838_841del NP_001159399.1:p.Arg280ThrfsTer9
NM_017777.3:c.868_871del , LRG_687t1:c.868_871del NP_060247.2:p.Arg290ThrfsTer9
XM_005257483.3:c.868_871del XP_005257540.1:p.Arg290ThrfsTer9
XM_005257485.3:c.439_442del XP_005257542.1:p.Arg147ThrfsTer9
XM_005257486.3:c.259_262del XP_005257543.1:p.Arg87ThrfsTer9
XM_006721965.2:c.259_262del XP_006722028.1:p.Arg87ThrfsTer9
XM_011524957.1:c.877_880del XP_011523259.1:p.Arg293ThrfsTer9
XM_011524958.1:c.877_880del XP_011523260.1:p.Arg293ThrfsTer9
XM_011524959.1:c.877_880del XP_011523261.1:p.Arg293ThrfsTer9
XM_011524960.1:c.877_880del XP_011523262.1:p.Arg293ThrfsTer9
XR_934494.1:n.925_928del
NM_001321268.1:c.259_262del NP_001308197.1:p.Arg87ThrfsTer9
NM_001321269.1:c.868_871del NP_001308198.1:p.Arg290ThrfsTer9
NM_001330397.1:c.868_871del NP_001317326.1:p.Arg290ThrfsTer9
XM_005257485.4:c.439_442del XP_005257542.1:p.Arg147ThrfsTer9
XM_006721965.3:c.259_262del XP_006722028.1:p.Arg87ThrfsTer9
XM_011524957.2:c.877_880del XP_011523259.1:p.Arg293ThrfsTer9
XM_011524958.2:c.877_880del XP_011523260.1:p.Arg293ThrfsTer9
XM_011524959.2:c.877_880del XP_011523261.1:p.Arg293ThrfsTer9
XM_011524960.2:c.877_880del XP_011523262.1:p.Arg293ThrfsTer9
XM_017024804.2:c.868_871del XP_016880293.1:p.Arg290ThrfsTer9
XM_017024805.1:c.439_442del XP_016880294.1:p.Arg147ThrfsTer9
XR_002958042.1:n.922_925del
NM_001321268.2:c.259_262del NP_001308197.1:p.Arg87ThrfsTer9
NM_001321269.2:c.868_871del NP_001308198.1:p.Arg290ThrfsTer9
NM_001330397.2:c.868_871del NP_001317326.1:p.Arg290ThrfsTer9
NM_017777.4:c.868_871del MANE Select NP_060247.2:p.Arg290ThrfsTer9