Canonical Allele Identifier: CA645579152

Gene: MKS1

Linked Data

• ClinVar Variation Id: 1074274
• ClinVar RCV Id: RCV001387502 ; RCV001831396
• dbSNP Id: rs1968969593
• gnomAD v4: 17-58213028-TG-T
• COSMIC: COSM3195133 ; COSM3195134

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58213034del , CM000679.2:g.58213034del	GRCh38
NC_000017.10:g.56290395del , CM000679.1:g.56290395del	GRCh37
NC_000017.9:g.53645394del	NCBI36
NG_013032.1:g.11577del , LRG_687:g.11577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.811del	ENSP00000316631.6:p.His271ThrfsTer29
ENST00000393119.7:c.811del MANE Select	ENSP00000376827.2:p.His271ThrfsTer29
ENST00000537529.7:c.382del	ENSP00000442096.3:p.His128ThrfsTer29
ENST00000580127.6:c.811del	ENSP00000462423.2:p.His271ThrfsTer29
ENST00000581761.6:c.811del	ENSP00000462129.2:p.His271ThrfsTer29
ENST00000585134.2:c.811del	ENSP00000463826.2:p.His271ThrfsTer29
ENST00000675753.2:c.*430del	ENSP00000502156.1:n.*430del
ENST00000676787.1:c.682del	ENSP00000503999.1:p.His228ThrfsTer29
ENST00000676975.1:c.676del	ENSP00000503970.1:n.676del
ENST00000677076.1:n.2085del
ENST00000677111.1:c.811del	ENSP00000504282.1:p.His271ThrfsTer29
ENST00000677160.1:n.2085del
ENST00000677416.1:n.836del
ENST00000677475.1:n.2762del
ENST00000677486.1:c.*155del	ENSP00000503852.1:n.*155del
ENST00000677546.1:c.*155del	ENSP00000504043.1:n.*155del
ENST00000677709.1:n.836del
ENST00000678011.1:n.836del
ENST00000678211.1:n.2860del
ENST00000678432.1:c.*430del	ENSP00000504452.1:n.*430del
ENST00000678463.1:c.811del	ENSP00000502984.1:p.His271ThrfsTer29
ENST00000678481.1:n.612del
ENST00000678568.1:c.*218del	ENSP00000504754.1:n.*218del
ENST00000678641.1:c.*155del	ENSP00000503159.1:n.*155del
ENST00000678928.1:n.2438del
ENST00000679081.1:n.2827del
ENST00000313863.10:c.811del	ENSP00000316631.6:p.His271ThrfsTer29
ENST00000393119.6:c.811del	ENSP00000376827.2:p.His271ThrfsTer29
ENST00000393120.6:c.*218del	ENSP00000376828.2:n.*218del
ENST00000537529.6:c.781del	ENSP00000442096.2:p.His261ThrfsTer29
ENST00000577824.5:c.288del
ENST00000581761.5:c.*218del	ENSP00000462129.1:n.*218del
ENST00000585134.1:c.34del	ENSP00000463826.1:p.His12ThrfsTer29
NM_001165927.1:c.781del , LRG_687t2:c.781del	NP_001159399.1:p.His261ThrfsTer29
NM_017777.3:c.811del , LRG_687t1:c.811del	NP_060247.2:p.His271ThrfsTer29
XM_005257483.3:c.811del	XP_005257540.1:p.His271ThrfsTer29
XM_005257485.3:c.382del	XP_005257542.1:p.His128ThrfsTer29
XM_005257486.3:c.202del	XP_005257543.1:p.His68ThrfsTer29
XM_006721965.2:c.202del	XP_006722028.1:p.His68ThrfsTer29
XM_011524957.1:c.820del	XP_011523259.1:p.His274ThrfsTer29
XM_011524958.1:c.820del	XP_011523260.1:p.His274ThrfsTer29
XM_011524959.1:c.820del	XP_011523261.1:p.His274ThrfsTer29
XM_011524960.1:c.820del	XP_011523262.1:p.His274ThrfsTer29
XR_934494.1:n.868del
NM_001321268.1:c.202del	NP_001308197.1:p.His68ThrfsTer29
NM_001321269.1:c.811del	NP_001308198.1:p.His271ThrfsTer29
NM_001330397.1:c.811del	NP_001317326.1:p.His271ThrfsTer29
XM_005257485.4:c.382del	XP_005257542.1:p.His128ThrfsTer29
XM_006721965.3:c.202del	XP_006722028.1:p.His68ThrfsTer29
XM_011524957.2:c.820del	XP_011523259.1:p.His274ThrfsTer29
XM_011524958.2:c.820del	XP_011523260.1:p.His274ThrfsTer29
XM_011524959.2:c.820del	XP_011523261.1:p.His274ThrfsTer29
XM_011524960.2:c.820del	XP_011523262.1:p.His274ThrfsTer29
XM_017024804.2:c.811del	XP_016880293.1:p.His271ThrfsTer29
XM_017024805.1:c.382del	XP_016880294.1:p.His128ThrfsTer29
XR_002958042.1:n.865del
NM_001321268.2:c.202del	NP_001308197.1:p.His68ThrfsTer29
NM_001321269.2:c.811del	NP_001308198.1:p.His271ThrfsTer29
NM_001330397.2:c.811del	NP_001317326.1:p.His271ThrfsTer29
NM_017777.4:c.811del MANE Select	NP_060247.2:p.His271ThrfsTer29