Canonical Allele Identifier: CA658823777

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58207147_58207161del , CM000679.2:g.58207147_58207161del	GRCh38
NC_000017.10:g.56284508_56284522del , CM000679.1:g.56284508_56284522del	GRCh37
NC_000017.9:g.53639507_53639521del	NCBI36
NG_013020.1:g.19420_19434del
NG_013032.1:g.17445_17459del , LRG_687:g.17445_17459del

Transcript Alleles

HGVS	Amino-acid Change
NM_017777.4:c.1331_1345del MANE Select	NP_060247.2:p.Glu444_Phe449delinsVal
ENST00000393119.7:c.1331_1345del MANE Select	ENSP00000376827.2:p.Glu444_Phe449delinsVal
NM_001165927.1:c.1301_1315del , LRG_687t2:c.1301_1315del	NP_001159399.1:p.Glu434_Phe439delinsVal
NM_001321268.1:c.722_736del	NP_001308197.1:p.Glu241_Phe246delinsVal
NM_001321268.2:c.722_736del	NP_001308197.1:p.Glu241_Phe246delinsVal
NM_001321269.1:c.1331_1345del	NP_001308198.1:p.Glu444_Phe449delinsVal
NM_001321269.2:c.1331_1345del	NP_001308198.1:p.Glu444_Phe449delinsVal
NM_001330397.1:c.1273+733_1273+747del	NP_001317326.1:n.1273+733_1273+747del
NM_001330397.2:c.1273+733_1273+747del	NP_001317326.1:n.1273+733_1273+747del
NM_017777.3:c.1331_1345del , LRG_687t1:c.1331_1345del	NP_060247.2:p.Glu444_Phe449delinsVal
ENST00000313863.10:c.1273+733_1273+747del	ENSP00000316631.6:n.1273+733_1273+747del
ENST00000313863.11:c.1273+733_1273+747del	ENSP00000316631.6:n.1273+733_1273+747del
ENST00000393119.6:c.1331_1345del	ENSP00000376827.2:p.Glu444_Phe449delinsVal
ENST00000393120.6:c.*738_*752del	ENSP00000376828.2:n.*738_*752del
ENST00000537529.6:c.1301_1315del	ENSP00000442096.2:p.Glu434_Phe439delinsVal
ENST00000537529.7:c.902_916del	ENSP00000442096.3:p.Glu301_Phe306delinsVal
ENST00000675753.2:c.*950_*964del	ENSP00000502156.1:n.*950_*964del
ENST00000676787.1:c.1202_1216del	ENSP00000503999.1:p.Glu401_Phe406delinsVal
ENST00000677111.1:c.*268_*282del	ENSP00000504282.1:n.*268_*282del
ENST00000677160.1:n.2605_2619del
ENST00000677416.1:n.2031_2045del
ENST00000677486.1:c.*675_*689del	ENSP00000503852.1:n.*675_*689del
ENST00000677709.1:n.2031_2045del
ENST00000678011.1:n.1694_1708del
ENST00000678432.1:c.*1105_*1119del	ENSP00000504452.1:n.*1105_*1119del
ENST00000678463.1:c.1331_1345del	ENSP00000502984.1:p.Glu444_Phe449delinsVal
ENST00000678568.1:c.*738_*752del	ENSP00000504754.1:n.*738_*752del
ENST00000678641.1:c.*675_*689del	ENSP00000503159.1:n.*675_*689del
ENST00000678763.1:n.1109_1123del
XM_005257483.3:c.1331_1345del	XP_005257540.1:p.Glu444_Phe449delinsVal
XM_005257485.3:c.902_916del	XP_005257542.1:p.Glu301_Phe306delinsVal
XM_005257485.4:c.902_916del	XP_005257542.1:p.Glu301_Phe306delinsVal
XM_005257486.3:c.722_736del	XP_005257543.1:p.Glu241_Phe246delinsVal
XM_006721965.2:c.722_736del	XP_006722028.1:p.Glu241_Phe246delinsVal
XM_006721965.3:c.722_736del	XP_006722028.1:p.Glu241_Phe246delinsVal
XM_011524957.1:c.1340_1354del	XP_011523259.1:p.Glu447_Phe452delinsVal
XM_011524957.2:c.1340_1354del	XP_011523259.1:p.Glu447_Phe452delinsVal
XM_011524958.1:c.1340_1354del	XP_011523260.1:p.Glu447_Phe452delinsVal
XM_011524958.2:c.1340_1354del	XP_011523260.1:p.Glu447_Phe452delinsVal
XM_011524959.1:c.1282+733_1282+747del	XP_011523261.1:n.1282+733_1282+747del
XM_011524959.2:c.1282+733_1282+747del	XP_011523261.1:n.1282+733_1282+747del
XM_017024805.1:c.902_916del	XP_016880294.1:p.Glu301_Phe306delinsVal
XR_002958042.1:n.1342_1356del