Canonical Allele Identifier: CA2580573370
Gene: MKS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.[58206479A>C;58208155_58208157del] , CM000679.2:g.[58206479A>C;58208155_58208157del] GRCh38
NC_000017.10:g.[56283840A>C;56285516_56285518del] , CM000679.1:g.[56283840A>C;56285516_56285518del] GRCh37
NC_000017.9:g.[53638839A>C;53640515_53640517del] NCBI36
NG_013032.1:g.[16451_16453del;18127T>G] , LRG_687:g.[16451_16453del;18127T>G]

Transcript Alleles

HGVS Amino-acid Change
ENST00000313863.11:c.[1115_1117del;1274-99T>G] ENSP00000316631.6:p.Ser372del
ENST00000393119.7:c.[1115_1117del;1476T>G] MANE Select ENSP00000376827.2:p.[Ser372del;Cys492Trp]
ENST00000537529.7:c.[686_688del;1047T>G] ENSP00000442096.3:p.[Ser229del;Cys349Trp]
ENST00000675753.2:c.[*734_*736del;*1095T>G] ENSP00000502156.1:n.[*734_*736del;*1095T>G]
ENST00000676787.1:c.[986_988del;1347T>G] ENSP00000503999.1:p.[Ser329del;Cys449Trp]
ENST00000677111.1:c.[*52_*54del;*950T>G] ENSP00000504282.1:n.[*52_*54del;*950T>G]
ENST00000677160.1:n.[2389_2391del;2750T>G]
ENST00000677416.1:n.[1140_1142del;2713T>G]
ENST00000677486.1:c.[*459_*461del;*820T>G] ENSP00000503852.1:n.[*459_*461del;*820T>G]
ENST00000677709.1:n.[1140_1142del;2176T>G]
ENST00000678011.1:n.[1478_1480del;2376T>G]
ENST00000678432.1:c.[*734_*736del;*1250T>G] ENSP00000504452.1:n.[*734_*736del;*1250T>G]
ENST00000678463.1:c.[1115_1117del;1408-99T>G] ENSP00000502984.1:p.Ser372del
ENST00000678568.1:c.[*522_*524del;*815-99T>G] ENSP00000504754.1:n.[*522_*524del;*815-99T>G]
ENST00000678641.1:c.[*459_*461del;*820T>G] ENSP00000503159.1:n.[*459_*461del;*820T>G]
ENST00000678763.1:n.[893_895del;1791T>G]
ENST00000313863.10:c.[1115_1117del;1274-99T>G] ENSP00000316631.6:p.Ser372del
ENST00000393119.6:c.[1115_1117del;1476T>G] ENSP00000376827.2:p.[Ser372del;Cys492Trp]
ENST00000393120.6:c.[*522_*524del;*883T>G] ENSP00000376828.2:n.[*522_*524del;*883T>G]
ENST00000537529.6:c.[1085_1087del;1446T>G] ENSP00000442096.2:p.[Ser362del;Cys482Trp]
NM_001165927.1:c.[1085_1087del;1446T>G] , LRG_687t2:c.[1085_1087del;1446T>G] NP_001159399.1:p.[Ser362del;Cys482Trp]
NM_017777.3:c.[1115_1117del;1476T>G] , LRG_687t1:c.[1115_1117del;1476T>G] NP_060247.2:p.[Ser372del;Cys492Trp]
XM_005257483.3:c.[1115_1117del;1408-99T>G] XP_005257540.1:p.Ser372del
XM_005257485.3:c.[686_688del;979-99T>G] XP_005257542.1:p.Ser229del
XM_005257486.3:c.[506_508del;867T>G] XP_005257543.1:p.[Ser169del;Cys289Trp]
XM_006721965.2:c.[506_508del;799-99T>G] XP_006722028.1:p.Ser169del
XM_011524957.1:c.[1124_1126del;1417-99T>G] XP_011523259.1:p.Ser375del
XM_011524958.1:c.[1124_1126del;1485T>G] XP_011523260.1:p.[Ser375del;Cys495Trp]
XM_011524959.1:c.[1124_1126del;1283-99T>G] XP_011523261.1:p.Ser375del
NM_001321268.1:c.[506_508del;867T>G] NP_001308197.1:p.[Ser169del;Cys289Trp]
NM_001321269.1:c.[1115_1117del;1408-99T>G] NP_001308198.1:p.Ser372del
NM_001330397.1:c.[1115_1117del;1274-99T>G] NP_001317326.1:p.Ser372del
XM_005257485.4:c.[686_688del;979-99T>G] XP_005257542.1:p.Ser229del
XM_006721965.3:c.[506_508del;799-99T>G] XP_006722028.1:p.Ser169del
XM_011524957.2:c.[1124_1126del;1417-99T>G] XP_011523259.1:p.Ser375del
XM_011524958.2:c.[1124_1126del;1485T>G] XP_011523260.1:p.[Ser375del;Cys495Trp]
XM_011524959.2:c.[1124_1126del;1283-99T>G] XP_011523261.1:p.Ser375del
XM_017024805.1:c.[686_688del;1047T>G] XP_016880294.1:p.[Ser229del;Cys349Trp]
XR_002958042.1:n.[1126_1128del;1419-99T>G]
NM_001321268.2:c.[506_508del;867T>G] NP_001308197.1:p.[Ser169del;Cys289Trp]
NM_001321269.2:c.[1115_1117del;1408-99T>G] NP_001308198.1:p.Ser372del
NM_001330397.2:c.[1115_1117del;1274-99T>G] NP_001317326.1:p.Ser372del
NM_017777.4:c.[1115_1117del;1476T>G] MANE Select NP_060247.2:p.[Ser372del;Cys492Trp]