Canonical Allele Identifier: CA2535897012
Gene: MKS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58212908_58212909insATCAGACAGAAGTTTTTGATCATATTATAATAATAA , CM000679.2:g.58212908_58212909insATCAGACAGAAGTTTTTGATCATATTATAATAATAA GRCh38
NC_000017.10:g.56290269_56290270insATCAGACAGAAGTTTTTGATCATATTATAATAATAA , CM000679.1:g.56290269_56290270insATCAGACAGAAGTTTTTGATCATATTATAATAATAA GRCh37
NC_000017.9:g.53645268_53645269insATCAGACAGAAGTTTTTGATCATATTATAATAATAA NCBI36
NG_013032.1:g.11697_11698insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT , LRG_687:g.11697_11698insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000313863.11:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000316631.6:n.858+73_858+74insTTATTATTATAATATGATCAAAAAC...
ENST00000393119.7:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT MANE Select ENSP00000376827.2:n.858+73_858+74insTTATTATTATAATATGATCAAAAAC...
ENST00000537529.7:c.429+73_429+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000442096.3:n.429+73_429+74insTTATTATTATAATATGATCAAAAAC...
ENST00000580127.6:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000462423.2:n.858+73_858+74insTTATTATTATAATATGATCAAAAAC...
ENST00000581761.6:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000462129.2:n.858+73_858+74insTTATTATTATAATATGATCAAAAAC...
ENST00000585134.2:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000463826.2:n.858+73_858+74insTTATTATTATAATATGATCAAAAAC...
ENST00000675753.2:c.*477+73_*477+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000502156.1:n.*477+73_*477+74insTTATTATTATAATATGATCAAAA...
ENST00000676787.1:c.729+73_729+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000503999.1:n.729+73_729+74insTTATTATTATAATATGATCAAAAAC...
ENST00000676975.1:c.723+73_723+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000503970.1:n.723+73_723+74insTTATTATTATAATATGATCAAAAAC...
ENST00000677076.1:n.2132+73_2132+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT
ENST00000677111.1:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000504282.1:n.858+73_858+74insTTATTATTATAATATGATCAAAAAC...
ENST00000677160.1:n.2132+73_2132+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT
ENST00000677416.1:n.883+73_883+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT
ENST00000677475.1:n.2809+73_2809+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT
ENST00000677486.1:c.*202+73_*202+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000503852.1:n.*202+73_*202+74insTTATTATTATAATATGATCAAAA...
ENST00000677546.1:c.*202+73_*202+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000504043.1:n.*202+73_*202+74insTTATTATTATAATATGATCAAAA...
ENST00000677709.1:n.883+73_883+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT
ENST00000678011.1:n.883+73_883+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT
ENST00000678211.1:n.2980_2981insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT
ENST00000678432.1:c.*477+73_*477+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000504452.1:n.*477+73_*477+74insTTATTATTATAATATGATCAAAA...
ENST00000678463.1:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000502984.1:n.858+73_858+74insTTATTATTATAATATGATCAAAAAC...
ENST00000678481.1:n.659+73_659+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT
ENST00000678568.1:c.*265+73_*265+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000504754.1:n.*265+73_*265+74insTTATTATTATAATATGATCAAAA...
ENST00000678641.1:c.*202+73_*202+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000503159.1:n.*202+73_*202+74insTTATTATTATAATATGATCAAAA...
ENST00000678928.1:n.2485+73_2485+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT
ENST00000679081.1:n.2947_2948insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT
ENST00000313863.10:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000316631.6:n.858+73_858+74insTTATTATTATAATATGATCAAAAAC...
ENST00000393119.6:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000376827.2:n.858+73_858+74insTTATTATTATAATATGATCAAAAAC...
ENST00000393120.6:c.*265+73_*265+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000376828.2:n.*265+73_*265+74insTTATTATTATAATATGATCAAAA...
ENST00000537529.6:c.828+73_828+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000442096.2:n.828+73_828+74insTTATTATTATAATATGATCAAAAAC...
ENST00000577824.5:c.335+73_335+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT
ENST00000581761.5:c.*265+73_*265+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000462129.1:n.*265+73_*265+74insTTATTATTATAATATGATCAAAA...
ENST00000585134.1:c.81+73_81+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT ENSP00000463826.1:n.81+73_81+74insTTATTATTATAATATGATCAAAAACTT...
NM_001165927.1:c.828+73_828+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT , LRG_687t2:c.828+73_828+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT NP_001159399.1:n.828+73_828+74insTTATTATTATAATATGATCAAAAACTTC...
NM_017777.3:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT , LRG_687t1:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT NP_060247.2:n.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGT...
XM_005257483.3:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT XP_005257540.1:n.858+73_858+74insTTATTATTATAATATGATCAAAAACTTC...
XM_005257485.3:c.429+73_429+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT XP_005257542.1:n.429+73_429+74insTTATTATTATAATATGATCAAAAACTTC...
XM_005257486.3:c.249+73_249+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT XP_005257543.1:n.249+73_249+74insTTATTATTATAATATGATCAAAAACTTC...
XM_006721965.2:c.249+73_249+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT XP_006722028.1:n.249+73_249+74insTTATTATTATAATATGATCAAAAACTTC...
XM_011524957.1:c.867+73_867+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT XP_011523259.1:n.867+73_867+74insTTATTATTATAATATGATCAAAAACTTC...
XM_011524958.1:c.867+73_867+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT XP_011523260.1:n.867+73_867+74insTTATTATTATAATATGATCAAAAACTTC...
XM_011524959.1:c.867+73_867+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT XP_011523261.1:n.867+73_867+74insTTATTATTATAATATGATCAAAAACTTC...
XM_011524960.1:c.867+73_867+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT XP_011523262.1:n.867+73_867+74insTTATTATTATAATATGATCAAAAACTTC...
XR_934494.1:n.915+73_915+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT
NM_001321268.1:c.249+73_249+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT NP_001308197.1:n.249+73_249+74insTTATTATTATAATATGATCAAAAACTTC...
NM_001321269.1:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT NP_001308198.1:n.858+73_858+74insTTATTATTATAATATGATCAAAAACTTC...
NM_001330397.1:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT NP_001317326.1:n.858+73_858+74insTTATTATTATAATATGATCAAAAACTTC...
XM_005257485.4:c.429+73_429+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT XP_005257542.1:n.429+73_429+74insTTATTATTATAATATGATCAAAAACTTC...
XM_006721965.3:c.249+73_249+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT XP_006722028.1:n.249+73_249+74insTTATTATTATAATATGATCAAAAACTTC...
XM_011524957.2:c.867+73_867+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT XP_011523259.1:n.867+73_867+74insTTATTATTATAATATGATCAAAAACTTC...
XM_011524958.2:c.867+73_867+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT XP_011523260.1:n.867+73_867+74insTTATTATTATAATATGATCAAAAACTTC...
XM_011524959.2:c.867+73_867+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT XP_011523261.1:n.867+73_867+74insTTATTATTATAATATGATCAAAAACTTC...
XM_011524960.2:c.867+73_867+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT XP_011523262.1:n.867+73_867+74insTTATTATTATAATATGATCAAAAACTTC...
XM_017024804.2:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT XP_016880293.1:n.858+73_858+74insTTATTATTATAATATGATCAAAAACTTC...
XM_017024805.1:c.429+73_429+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT XP_016880294.1:n.429+73_429+74insTTATTATTATAATATGATCAAAAACTTC...
XR_002958042.1:n.912+73_912+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT
NM_001321268.2:c.249+73_249+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT NP_001308197.1:n.249+73_249+74insTTATTATTATAATATGATCAAAAACTTC...
NM_001321269.2:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT NP_001308198.1:n.858+73_858+74insTTATTATTATAATATGATCAAAAACTTC...
NM_001330397.2:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT NP_001317326.1:n.858+73_858+74insTTATTATTATAATATGATCAAAAACTTC...
NM_017777.4:c.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGTCTGAT MANE Select NP_060247.2:n.858+73_858+74insTTATTATTATAATATGATCAAAAACTTCTGT...