Canonical Allele Identifier: CA2838231695
Gene: MKS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58206103del , CM000679.2:g.58206103del GRCh38
NC_000017.10:g.56283464del , CM000679.1:g.56283464del GRCh37
NC_000017.9:g.53638463del NCBI36
NG_013020.1:g.18376del
NG_013032.1:g.18506del , LRG_687:g.18506del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313863.11:c.*71del ENSP00000316631.6:n.*71del
ENST00000393119.7:c.1659del MANE Select ENSP00000376827.2:p.Ser554LeufsTer24
ENST00000537529.7:c.1230del ENSP00000442096.3:p.Ser411LeufsTer24
ENST00000675753.2:c.*1278del ENSP00000502156.1:n.*1278del
ENST00000676787.1:c.1530del ENSP00000503999.1:p.Ser511LeufsTer24
ENST00000677111.1:c.*1133del ENSP00000504282.1:n.*1133del
ENST00000677160.1:n.2933del
ENST00000677416.1:n.2980del
ENST00000677486.1:c.*1003del ENSP00000503852.1:n.*1003del
ENST00000677709.1:n.2359del
ENST00000678011.1:n.2559del
ENST00000678432.1:c.*1433del ENSP00000504452.1:n.*1433del
ENST00000678463.1:c.1576del ENSP00000502984.1:p.Leu526SerfsTer7
ENST00000678568.1:c.*983del ENSP00000504754.1:n.*983del
ENST00000678641.1:c.*1003del ENSP00000503159.1:n.*1003del
ENST00000678763.1:n.1974del
ENST00000313863.10:c.*71del ENSP00000316631.6:n.*71del
ENST00000393119.6:c.1659del ENSP00000376827.2:p.Ser554LeufsTer24
ENST00000393120.6:c.*1066del ENSP00000376828.2:n.*1066del
ENST00000537529.6:c.1629del ENSP00000442096.2:p.Ser544LeufsTer24
ENST00000583577.1:n.485del
NM_001165927.1:c.1629del , LRG_687t2:c.1629del NP_001159399.1:p.Ser544LeufsTer24
NM_017777.3:c.1659del , LRG_687t1:c.1659del NP_060247.2:p.Ser554LeufsTer24
XM_005257483.3:c.1576del XP_005257540.1:p.Leu526SerfsTer7
XM_005257485.3:c.1147del XP_005257542.1:p.Leu383SerfsTer7
XM_005257486.3:c.1050del XP_005257543.1:p.Ser351LeufsTer24
XM_006721965.2:c.967del XP_006722028.1:p.Leu323SerfsTer7
XM_011524957.1:c.1585del XP_011523259.1:p.Leu529SerfsTer7
XM_011524958.1:c.1668del XP_011523260.1:p.Ser557LeufsTer24
XM_011524959.1:c.*71del XP_011523261.1:n.*71del
NM_001321268.1:c.1050del NP_001308197.1:p.Ser351LeufsTer24
NM_001321269.1:c.1576del NP_001308198.1:p.Leu526SerfsTer7
NM_001330397.1:c.*71del NP_001317326.1:n.*71del
XM_005257485.4:c.1147del XP_005257542.1:p.Leu383SerfsTer7
XM_006721965.3:c.967del XP_006722028.1:p.Leu323SerfsTer7
XM_011524957.2:c.1585del XP_011523259.1:p.Leu529SerfsTer7
XM_011524958.2:c.1668del XP_011523260.1:p.Ser557LeufsTer24
XM_011524959.2:c.*71del XP_011523261.1:n.*71del
XM_017024805.1:c.1230del XP_016880294.1:p.Ser411LeufsTer24
XR_002958042.1:n.1587del
NM_001321268.2:c.1050del NP_001308197.1:p.Ser351LeufsTer24
NM_001321269.2:c.1576del NP_001308198.1:p.Leu526SerfsTer7
NM_001330397.2:c.*71del NP_001317326.1:n.*71del
NM_017777.4:c.1659del MANE Select NP_060247.2:p.Ser554LeufsTer24