Canonical Allele Identifier: CA2580094280
Gene: MKS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58214272_58214273del , CM000679.2:g.58214272_58214273del GRCh38
NC_000017.10:g.56291633_56291634del , CM000679.1:g.56291633_56291634del GRCh37
NC_000017.9:g.53646632_53646633del NCBI36
NG_013032.1:g.10335_10336del , LRG_687:g.10335_10336del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313863.11:c.632_633del ENSP00000316631.6:p.Gly211AlafsTer3
ENST00000393119.7:c.632_633del MANE Select ENSP00000376827.2:p.Gly211AlafsTer3
ENST00000537529.7:c.203_204del ENSP00000442096.3:p.Gly68AlafsTer3
ENST00000580127.6:c.632_633del ENSP00000462423.2:p.Gly211AlafsTer3
ENST00000581761.6:c.632_633del ENSP00000462129.2:p.Gly211AlafsTer3
ENST00000585134.2:c.632_633del ENSP00000463826.2:p.Gly211AlafsTer3
ENST00000675753.2:c.*251_*252del ENSP00000502156.1:n.*251_*252del
ENST00000676787.1:c.516-402_516-401del ENSP00000503999.1:n.516-402_516-401del
ENST00000676975.1:c.497_498del ENSP00000503970.1:n.497_498del
ENST00000677076.1:n.1906_1907del
ENST00000677111.1:c.632_633del ENSP00000504282.1:p.Gly211AlafsTer3
ENST00000677160.1:n.1906_1907del
ENST00000677416.1:n.657_658del
ENST00000677475.1:n.1909_1910del
ENST00000677486.1:c.262-402_262-401del ENSP00000503852.1:n.262-402_262-401del
ENST00000677546.1:c.418-402_418-401del ENSP00000504043.1:n.418-402_418-401del
ENST00000677709.1:n.657_658del
ENST00000678011.1:n.657_658del
ENST00000678211.1:n.2681_2682del
ENST00000678432.1:c.*251_*252del ENSP00000504452.1:n.*251_*252del
ENST00000678463.1:c.632_633del ENSP00000502984.1:p.Gly211AlafsTer3
ENST00000678481.1:n.446-402_446-401del
ENST00000678568.1:c.*39_*40del ENSP00000504754.1:n.*39_*40del
ENST00000678641.1:c.418-402_418-401del ENSP00000503159.1:n.418-402_418-401del
ENST00000678928.1:n.2259_2260del
ENST00000679081.1:n.2259_2260del
ENST00000313863.10:c.632_633del ENSP00000316631.6:p.Gly211AlafsTer3
ENST00000393119.6:c.632_633del ENSP00000376827.2:p.Gly211AlafsTer3
ENST00000393120.6:c.*39_*40del ENSP00000376828.2:n.*39_*40del
ENST00000537529.6:c.602_603del ENSP00000442096.2:p.Gly201AlafsTer3
ENST00000577824.5:c.109_110del
ENST00000578789.1:c.*375_*376del ENSP00000462411.1:n.*375_*376del
ENST00000580127.5:c.*251_*252del ENSP00000462423.1:n.*251_*252del
ENST00000581761.5:c.*39_*40del ENSP00000462129.1:n.*39_*40del
NM_001165927.1:c.602_603del , LRG_687t2:c.602_603del NP_001159399.1:p.Gly201AlafsTer3
NM_017777.3:c.632_633del , LRG_687t1:c.632_633del NP_060247.2:p.Gly211AlafsTer3
XM_005257483.3:c.632_633del XP_005257540.1:p.Gly211AlafsTer3
XM_005257485.3:c.203_204del XP_005257542.1:p.Gly68AlafsTer3
XM_005257486.3:c.23_24del XP_005257543.1:p.Gly8AlafsTer3
XM_006721965.2:c.23_24del XP_006722028.1:p.Gly8AlafsTer3
XM_011524957.1:c.641_642del XP_011523259.1:p.Gly214AlafsTer3
XM_011524958.1:c.641_642del XP_011523260.1:p.Gly214AlafsTer3
XM_011524959.1:c.641_642del XP_011523261.1:p.Gly214AlafsTer3
XM_011524960.1:c.641_642del XP_011523262.1:p.Gly214AlafsTer3
XR_934494.1:n.689_690del
NM_001321268.1:c.23_24del NP_001308197.1:p.Gly8AlafsTer3
NM_001321269.1:c.632_633del NP_001308198.1:p.Gly211AlafsTer3
NM_001330397.1:c.632_633del NP_001317326.1:p.Gly211AlafsTer3
XM_005257485.4:c.203_204del XP_005257542.1:p.Gly68AlafsTer3
XM_006721965.3:c.23_24del XP_006722028.1:p.Gly8AlafsTer3
XM_011524957.2:c.641_642del XP_011523259.1:p.Gly214AlafsTer3
XM_011524958.2:c.641_642del XP_011523260.1:p.Gly214AlafsTer3
XM_011524959.2:c.641_642del XP_011523261.1:p.Gly214AlafsTer3
XM_011524960.2:c.641_642del XP_011523262.1:p.Gly214AlafsTer3
XM_017024804.2:c.632_633del XP_016880293.1:p.Gly211AlafsTer3
XM_017024805.1:c.203_204del XP_016880294.1:p.Gly68AlafsTer3
XR_002958042.1:n.686_687del
NM_001321268.2:c.23_24del NP_001308197.1:p.Gly8AlafsTer3
NM_001321269.2:c.632_633del NP_001308198.1:p.Gly211AlafsTer3
NM_001330397.2:c.632_633del NP_001317326.1:p.Gly211AlafsTer3
NM_017777.4:c.632_633del MANE Select NP_060247.2:p.Gly211AlafsTer3