Canonical Allele Identifier: CA334784
Gene: MKS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58206555_58206583del , CM000679.2:g.58206555_58206583del GRCh38
NC_000017.10:g.56283916_56283944del , CM000679.1:g.56283916_56283944del GRCh37
NC_000017.9:g.53638915_53638943del NCBI36
NG_013020.1:g.18828_18856del
NG_013032.1:g.18025_18053del , LRG_687:g.18025_18053del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313863.11:c.1274-201_1274-173del ENSP00000316631.6:n.1274-201_1274-173del
ENST00000393119.7:c.1408-34_1408-6del MANE Select ENSP00000376827.2:n.1408-34_1408-6del
ENST00000537529.7:c.979-34_979-6del ENSP00000442096.3:n.979-34_979-6del
ENST00000675753.2:c.*1027-34_*1027-6del ENSP00000502156.1:n.*1027-34_*1027-6del
ENST00000676787.1:c.1279-34_1279-6del ENSP00000503999.1:n.1279-34_1279-6del
ENST00000677111.1:c.*848_*876del ENSP00000504282.1:n.*848_*876del
ENST00000677160.1:n.2682-34_2682-6del
ENST00000677416.1:n.2611_2639del
ENST00000677486.1:c.*752-34_*752-6del ENSP00000503852.1:n.*752-34_*752-6del
ENST00000677709.1:n.2108-34_2108-6del
ENST00000678011.1:n.2274_2302del
ENST00000678432.1:c.*1182-34_*1182-6del ENSP00000504452.1:n.*1182-34_*1182-6del
ENST00000678463.1:c.1408-201_1408-173del ENSP00000502984.1:n.1408-201_1408-173del
ENST00000678568.1:c.*815-201_*815-173del ENSP00000504754.1:n.*815-201_*815-173del
ENST00000678641.1:c.*752-34_*752-6del ENSP00000503159.1:n.*752-34_*752-6del
ENST00000678763.1:n.1689_1717del
ENST00000313863.10:c.1274-201_1274-173del ENSP00000316631.6:n.1274-201_1274-173del
ENST00000393119.6:c.1408-34_1408-6del ENSP00000376827.2:n.1408-34_1408-6del
ENST00000393120.6:c.*815-34_*815-6del ENSP00000376828.2:n.*815-34_*815-6del
ENST00000537529.6:c.1378-34_1378-6del ENSP00000442096.2:n.1378-34_1378-6del
ENST00000583577.1:n.200_228del
NM_001165927.1:c.1378-34_1378-6del , LRG_687t2:c.1378-34_1378-6del NP_001159399.1:n.1378-34_1378-6del
NM_017777.3:c.1408-34_1408-6del , LRG_687t1:c.1408-34_1408-6del NP_060247.2:n.1408-34_1408-6del
XM_005257483.3:c.1408-201_1408-173del XP_005257540.1:n.1408-201_1408-173del
XM_005257485.3:c.979-201_979-173del XP_005257542.1:n.979-201_979-173del
XM_005257486.3:c.799-34_799-6del XP_005257543.1:n.799-34_799-6del
XM_006721965.2:c.799-201_799-173del XP_006722028.1:n.799-201_799-173del
XM_011524957.1:c.1417-201_1417-173del XP_011523259.1:n.1417-201_1417-173del
XM_011524958.1:c.1417-34_1417-6del XP_011523260.1:n.1417-34_1417-6del
XM_011524959.1:c.1283-201_1283-173del XP_011523261.1:n.1283-201_1283-173del
NM_001321268.1:c.799-34_799-6del NP_001308197.1:n.799-34_799-6del
NM_001321269.1:c.1408-201_1408-173del NP_001308198.1:n.1408-201_1408-173del
NM_001330397.1:c.1274-201_1274-173del NP_001317326.1:n.1274-201_1274-173del
XM_005257485.4:c.979-201_979-173del XP_005257542.1:n.979-201_979-173del
XM_006721965.3:c.799-201_799-173del XP_006722028.1:n.799-201_799-173del
XM_011524957.2:c.1417-201_1417-173del XP_011523259.1:n.1417-201_1417-173del
XM_011524958.2:c.1417-34_1417-6del XP_011523260.1:n.1417-34_1417-6del
XM_011524959.2:c.1283-201_1283-173del XP_011523261.1:n.1283-201_1283-173del
XM_017024805.1:c.979-34_979-6del XP_016880294.1:n.979-34_979-6del
XR_002958042.1:n.1419-201_1419-173del
NM_001321268.2:c.799-34_799-6del NP_001308197.1:n.799-34_799-6del
NM_001321269.2:c.1408-201_1408-173del NP_001308198.1:n.1408-201_1408-173del
NM_001330397.2:c.1274-201_1274-173del NP_001317326.1:n.1274-201_1274-173del
NM_017777.4:c.1408-34_1408-6del MANE Select NP_060247.2:n.1408-34_1408-6del
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