Canonical Allele Identifier: CA2580094285
Community Standard Title: NM_017777.4(MKS1):c.435del (p.Thr146LeufsTer?)
Gene: MKS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58214822del , CM000679.2:g.58214822del GRCh38
NC_000017.10:g.56292183del , CM000679.1:g.56292183del GRCh37
NC_000017.9:g.53647182del NCBI36
NG_013032.1:g.9785del , LRG_687:g.9785del

Transcript Alleles

HGVS Amino-acid Change
NM_017777.4:c.435del MANE Select NP_060247.2:p.Thr146LeufsTer?
ENST00000393119.7:c.435del MANE Select ENSP00000376827.2:p.Thr146LeufsTer?
NM_001165927.1:c.405del , LRG_687t2:c.405del NP_001159399.1:p.Thr136LeufsTer?
NM_001321268.1:c.-94-434del NP_001308197.1:n.-94-434del
NM_001321268.2:c.-94-434del NP_001308197.1:n.-94-434del
NM_001321269.1:c.435del NP_001308198.1:p.Thr146LeufsTer?
NM_001321269.2:c.435del NP_001308198.1:p.Thr146LeufsTer?
NM_001330397.1:c.435del NP_001317326.1:p.Thr146LeufsTer?
NM_001330397.2:c.435del NP_001317326.1:p.Thr146LeufsTer?
NM_017777.3:c.435del , LRG_687t1:c.435del NP_060247.2:p.Thr146LeufsTer?
ENST00000313863.10:c.435del ENSP00000316631.6:p.Thr146LeufsTer?
ENST00000313863.11:c.435del ENSP00000316631.6:p.Thr146LeufsTer?
ENST00000393119.6:c.435del ENSP00000376827.2:p.Thr146LeufsTer?
ENST00000393120.6:c.418-434del ENSP00000376828.2:n.418-434del
ENST00000537529.6:c.405del ENSP00000442096.2:p.Thr136LeufsTer?
ENST00000537529.7:c.6del ENSP00000442096.3:p.Thr3LeufsTer?
ENST00000578789.1:c.*178del ENSP00000462411.1:n.*178del
ENST00000580127.5:c.*54del ENSP00000462423.1:n.*54del
ENST00000580127.6:c.435del ENSP00000462423.2:p.Thr146LeufsTer?
ENST00000581761.5:c.208del ENSP00000462129.1:p.His70ThrfsTer?
ENST00000581761.6:c.435del ENSP00000462129.2:p.Thr146LeufsTer?
ENST00000585134.2:c.435del ENSP00000463826.2:p.Thr146LeufsTer?
ENST00000675753.2:c.*54del ENSP00000502156.1:n.*54del
ENST00000676787.1:c.435del ENSP00000503999.1:p.Thr146LeufsTer?
ENST00000676975.1:c.300del ENSP00000503970.1:n.300del
ENST00000677076.1:n.1709del
ENST00000677111.1:c.435del ENSP00000504282.1:p.Thr146LeufsTer?
ENST00000677160.1:n.1709del
ENST00000677416.1:n.460del
ENST00000677475.1:n.1712del
ENST00000677486.1:c.262-952del ENSP00000503852.1:n.262-952del
ENST00000677546.1:c.418-952del ENSP00000504043.1:n.418-952del
ENST00000677709.1:n.460del
ENST00000677791.1:n.463del
ENST00000678011.1:n.460del
ENST00000678211.1:n.2131del
ENST00000678432.1:c.*54del ENSP00000504452.1:n.*54del
ENST00000678463.1:c.435del ENSP00000502984.1:p.Thr146LeufsTer?
ENST00000678481.1:n.446-952del
ENST00000678568.1:c.208del ENSP00000504754.1:p.His70ThrfsTer?
ENST00000678641.1:c.418-952del ENSP00000503159.1:n.418-952del
ENST00000678928.1:n.1709del
ENST00000679081.1:n.1709del
XM_005257483.3:c.435del XP_005257540.1:p.Thr146LeufsTer?
XM_005257485.3:c.6del XP_005257542.1:p.Thr3LeufsTer?
XM_005257485.4:c.6del XP_005257542.1:p.Thr3LeufsTer?
XM_005257486.3:c.-94-434del XP_005257543.1:n.-94-434del
XM_006721965.2:c.-94-434del XP_006722028.1:n.-94-434del
XM_006721965.3:c.-94-434del XP_006722028.1:n.-94-434del
XM_011524957.1:c.444del XP_011523259.1:p.Thr149LeufsTer?
XM_011524957.2:c.444del XP_011523259.1:p.Thr149LeufsTer?
XM_011524958.1:c.444del XP_011523260.1:p.Thr149LeufsTer?
XM_011524958.2:c.444del XP_011523260.1:p.Thr149LeufsTer?
XM_011524959.1:c.444del XP_011523261.1:p.Thr149LeufsTer?
XM_011524959.2:c.444del XP_011523261.1:p.Thr149LeufsTer?
XM_011524960.1:c.444del XP_011523262.1:p.Thr149LeufsTer?
XM_011524960.2:c.444del XP_011523262.1:p.Thr149LeufsTer?
XM_017024804.2:c.435del XP_016880293.1:p.Thr146LeufsTer?
XM_017024805.1:c.6del XP_016880294.1:p.Thr3LeufsTer?
XR_002958042.1:n.489del
XR_934494.1:n.492del