Canonical Allele Identifier: CA2267604808
Gene: MKS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58212917_58212918delinsGA , CM000679.2:g.58212917_58212918delinsGA GRCh38
NC_000017.10:g.56290278_56290279delinsGA , CM000679.1:g.56290278_56290279delinsGA GRCh37
NC_000017.9:g.53645277_53645278delinsGA NCBI36
NG_013032.1:g.11688_11689delinsTC , LRG_687:g.11688_11689delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000313863.11:c.858+64_858+65delinsTC ENSP00000316631.6:n.858+64_858+65delinsTC
ENST00000393119.7:c.858+64_858+65delinsTC MANE Select ENSP00000376827.2:n.858+64_858+65delinsTC
ENST00000537529.7:c.429+64_429+65delinsTC ENSP00000442096.3:n.429+64_429+65delinsTC
ENST00000580127.6:c.858+64_858+65delinsTC ENSP00000462423.2:n.858+64_858+65delinsTC
ENST00000581761.6:c.858+64_858+65delinsTC ENSP00000462129.2:n.858+64_858+65delinsTC
ENST00000585134.2:c.858+64_858+65delinsTC ENSP00000463826.2:n.858+64_858+65delinsTC
ENST00000675753.2:c.*477+64_*477+65delinsTC ENSP00000502156.1:n.*477+64_*477+65delinsTC
ENST00000676787.1:c.729+64_729+65delinsTC ENSP00000503999.1:n.729+64_729+65delinsTC
ENST00000676975.1:c.723+64_723+65delinsTC ENSP00000503970.1:n.723+64_723+65delinsTC
ENST00000677076.1:n.2132+64_2132+65delinsTC
ENST00000677111.1:c.858+64_858+65delinsTC ENSP00000504282.1:n.858+64_858+65delinsTC
ENST00000677160.1:n.2132+64_2132+65delinsTC
ENST00000677416.1:n.883+64_883+65delinsTC
ENST00000677475.1:n.2809+64_2809+65delinsTC
ENST00000677486.1:c.*202+64_*202+65delinsTC ENSP00000503852.1:n.*202+64_*202+65delinsTC
ENST00000677546.1:c.*202+64_*202+65delinsTC ENSP00000504043.1:n.*202+64_*202+65delinsTC
ENST00000677709.1:n.883+64_883+65delinsTC
ENST00000678011.1:n.883+64_883+65delinsTC
ENST00000678211.1:n.2971_2972delinsTC
ENST00000678432.1:c.*477+64_*477+65delinsTC ENSP00000504452.1:n.*477+64_*477+65delinsTC
ENST00000678463.1:c.858+64_858+65delinsTC ENSP00000502984.1:n.858+64_858+65delinsTC
ENST00000678481.1:n.659+64_659+65delinsTC
ENST00000678568.1:c.*265+64_*265+65delinsTC ENSP00000504754.1:n.*265+64_*265+65delinsTC
ENST00000678641.1:c.*202+64_*202+65delinsTC ENSP00000503159.1:n.*202+64_*202+65delinsTC
ENST00000678928.1:n.2485+64_2485+65delinsTC
ENST00000679081.1:n.2938_2939delinsTC
ENST00000313863.10:c.858+64_858+65delinsTC ENSP00000316631.6:n.858+64_858+65delinsTC
ENST00000393119.6:c.858+64_858+65delinsTC ENSP00000376827.2:n.858+64_858+65delinsTC
ENST00000393120.6:c.*265+64_*265+65delinsTC ENSP00000376828.2:n.*265+64_*265+65delinsTC
ENST00000537529.6:c.828+64_828+65delinsTC ENSP00000442096.2:n.828+64_828+65delinsTC
ENST00000577824.5:c.335+64_335+65delinsTC
ENST00000581761.5:c.*265+64_*265+65delinsTC ENSP00000462129.1:n.*265+64_*265+65delinsTC
ENST00000585134.1:c.81+64_81+65delinsTC ENSP00000463826.1:n.81+64_81+65delinsTC
NM_001165927.1:c.828+64_828+65delinsTC , LRG_687t2:c.828+64_828+65delinsTC NP_001159399.1:n.828+64_828+65delinsTC
NM_017777.3:c.858+64_858+65delinsTC , LRG_687t1:c.858+64_858+65delinsTC NP_060247.2:n.858+64_858+65delinsTC
XM_005257483.3:c.858+64_858+65delinsTC XP_005257540.1:n.858+64_858+65delinsTC
XM_005257485.3:c.429+64_429+65delinsTC XP_005257542.1:n.429+64_429+65delinsTC
XM_005257486.3:c.249+64_249+65delinsTC XP_005257543.1:n.249+64_249+65delinsTC
XM_006721965.2:c.249+64_249+65delinsTC XP_006722028.1:n.249+64_249+65delinsTC
XM_011524957.1:c.867+64_867+65delinsTC XP_011523259.1:n.867+64_867+65delinsTC
XM_011524958.1:c.867+64_867+65delinsTC XP_011523260.1:n.867+64_867+65delinsTC
XM_011524959.1:c.867+64_867+65delinsTC XP_011523261.1:n.867+64_867+65delinsTC
XM_011524960.1:c.867+64_867+65delinsTC XP_011523262.1:n.867+64_867+65delinsTC
XR_934494.1:n.915+64_915+65delinsTC
NM_001321268.1:c.249+64_249+65delinsTC NP_001308197.1:n.249+64_249+65delinsTC
NM_001321269.1:c.858+64_858+65delinsTC NP_001308198.1:n.858+64_858+65delinsTC
NM_001330397.1:c.858+64_858+65delinsTC NP_001317326.1:n.858+64_858+65delinsTC
XM_005257485.4:c.429+64_429+65delinsTC XP_005257542.1:n.429+64_429+65delinsTC
XM_006721965.3:c.249+64_249+65delinsTC XP_006722028.1:n.249+64_249+65delinsTC
XM_011524957.2:c.867+64_867+65delinsTC XP_011523259.1:n.867+64_867+65delinsTC
XM_011524958.2:c.867+64_867+65delinsTC XP_011523260.1:n.867+64_867+65delinsTC
XM_011524959.2:c.867+64_867+65delinsTC XP_011523261.1:n.867+64_867+65delinsTC
XM_011524960.2:c.867+64_867+65delinsTC XP_011523262.1:n.867+64_867+65delinsTC
XM_017024804.2:c.858+64_858+65delinsTC XP_016880293.1:n.858+64_858+65delinsTC
XM_017024805.1:c.429+64_429+65delinsTC XP_016880294.1:n.429+64_429+65delinsTC
XR_002958042.1:n.912+64_912+65delinsTC
NM_001321268.2:c.249+64_249+65delinsTC NP_001308197.1:n.249+64_249+65delinsTC
NM_001321269.2:c.858+64_858+65delinsTC NP_001308198.1:n.858+64_858+65delinsTC
NM_001330397.2:c.858+64_858+65delinsTC NP_001317326.1:n.858+64_858+65delinsTC
NM_017777.4:c.858+64_858+65delinsTC MANE Select NP_060247.2:n.858+64_858+65delinsTC
Search 100 bp 5'
Search 100 bp 3'