Canonical Allele Identifier: CA2580094421

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58210992_58210993del , CM000679.2:g.58210992_58210993del	GRCh38
NC_000017.10:g.56288353_56288354del , CM000679.1:g.56288353_56288354del	GRCh37
NC_000017.9:g.53643352_53643353del	NCBI36
NG_013032.1:g.13614_13615del , LRG_687:g.13614_13615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.946_947del	ENSP00000316631.6:p.Asn316TrpfsTer10
ENST00000393119.7:c.946_947del MANE Select	ENSP00000376827.2:p.Asn316TrpfsTer10
ENST00000537529.7:c.517_518del	ENSP00000442096.3:p.Asn173TrpfsTer10
ENST00000580127.6:c.946_947del	ENSP00000462423.2:p.Asn316TrpfsTer10
ENST00000581761.6:c.946_947del	ENSP00000462129.2:p.Asn316TrpfsTer10
ENST00000585134.2:c.946_947del	ENSP00000463826.2:p.Asn316TrpfsTer10
ENST00000675753.2:c.*565_*566del	ENSP00000502156.1:n.*565_*566del
ENST00000676787.1:c.817_818del	ENSP00000503999.1:p.Asn273TrpfsTer10
ENST00000677111.1:c.915+1386_915+1387del	ENSP00000504282.1:n.915+1386_915+1387del
ENST00000677160.1:n.2220_2221del
ENST00000677416.1:n.971_972del
ENST00000677486.1:c.*290_*291del	ENSP00000503852.1:n.*290_*291del
ENST00000677546.1:c.*260-268_*260-267del	ENSP00000504043.1:n.*260-268_*260-267del
ENST00000677709.1:n.971_972del
ENST00000678011.1:n.971_972del
ENST00000678432.1:c.*565_*566del	ENSP00000504452.1:n.*565_*566del
ENST00000678463.1:c.946_947del	ENSP00000502984.1:p.Asn316TrpfsTer10
ENST00000678568.1:c.*353_*354del	ENSP00000504754.1:n.*353_*354del
ENST00000678641.1:c.*290_*291del	ENSP00000503159.1:n.*290_*291del
ENST00000678763.1:n.724_725del
ENST00000313863.10:c.946_947del	ENSP00000316631.6:p.Asn316TrpfsTer10
ENST00000393119.6:c.946_947del	ENSP00000376827.2:p.Asn316TrpfsTer10
ENST00000393120.6:c.*353_*354del	ENSP00000376828.2:n.*353_*354del
ENST00000537529.6:c.916_917del	ENSP00000442096.2:p.Asn306TrpfsTer10
ENST00000577824.5:c.423_424del
ENST00000579358.1:n.129_130del
ENST00000581761.5:c.*353_*354del	ENSP00000462129.1:n.*353_*354del
ENST00000585134.1:c.169_170del	ENSP00000463826.1:p.Asn57TrpfsTer10
NM_001165927.1:c.916_917del , LRG_687t2:c.916_917del	NP_001159399.1:p.Asn306TrpfsTer10
NM_017777.3:c.946_947del , LRG_687t1:c.946_947del	NP_060247.2:p.Asn316TrpfsTer10
XM_005257483.3:c.946_947del	XP_005257540.1:p.Asn316TrpfsTer10
XM_005257485.3:c.517_518del	XP_005257542.1:p.Asn173TrpfsTer10
XM_005257486.3:c.337_338del	XP_005257543.1:p.Asn113TrpfsTer10
XM_006721965.2:c.337_338del	XP_006722028.1:p.Asn113TrpfsTer10
XM_011524957.1:c.955_956del	XP_011523259.1:p.Asn319TrpfsTer10
XM_011524958.1:c.955_956del	XP_011523260.1:p.Asn319TrpfsTer10
XM_011524959.1:c.955_956del	XP_011523261.1:p.Asn319TrpfsTer10
XM_011524960.1:c.955_956del	XP_011523262.1:p.Asn319TrpfsTer10
XR_934494.1:n.973-268_973-267del
NM_001321268.1:c.337_338del	NP_001308197.1:p.Asn113TrpfsTer10
NM_001321269.1:c.946_947del	NP_001308198.1:p.Asn316TrpfsTer10
NM_001330397.1:c.946_947del	NP_001317326.1:p.Asn316TrpfsTer10
XM_005257485.4:c.517_518del	XP_005257542.1:p.Asn173TrpfsTer10
XM_006721965.3:c.337_338del	XP_006722028.1:p.Asn113TrpfsTer10
XM_011524957.2:c.955_956del	XP_011523259.1:p.Asn319TrpfsTer10
XM_011524958.2:c.955_956del	XP_011523260.1:p.Asn319TrpfsTer10
XM_011524959.2:c.955_956del	XP_011523261.1:p.Asn319TrpfsTer10
XM_011524960.2:c.955_956del	XP_011523262.1:p.Asn319TrpfsTer10
XM_017024804.2:c.946_947del	XP_016880293.1:p.Asn316TrpfsTer10
XM_017024805.1:c.517_518del	XP_016880294.1:p.Asn173TrpfsTer10
XR_002958042.1:n.970-268_970-267del
NM_001321268.2:c.337_338del	NP_001308197.1:p.Asn113TrpfsTer10
NM_001321269.2:c.946_947del	NP_001308198.1:p.Asn316TrpfsTer10
NM_001330397.2:c.946_947del	NP_001317326.1:p.Asn316TrpfsTer10
NM_017777.4:c.946_947del MANE Select	NP_060247.2:p.Asn316TrpfsTer10