Canonical Allele Identifier: CA2838231702

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206081_58206082del , CM000679.2:g.58206081_58206082del	GRCh38
NC_000017.10:g.56283442_56283443del , CM000679.1:g.56283442_56283443del	GRCh37
NC_000017.9:g.53638441_53638442del	NCBI36
NG_013020.1:g.18354_18355del
NG_013032.1:g.18524_18525del , LRG_687:g.18524_18525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.*89_*90del	ENSP00000316631.6:n.*89_*90del
ENST00000393119.7:c.1677_1678del MANE Select	ENSP00000376827.2:p.Ter560AlaextTer?
ENST00000537529.7:c.1248_1249del	ENSP00000442096.3:p.Ter417AlaextTer?
ENST00000675753.2:c.*1296_*1297del	ENSP00000502156.1:n.*1296_*1297del
ENST00000676787.1:c.1548_1549del	ENSP00000503999.1:p.Ter517AlaextTer?
ENST00000677111.1:c.*1151_*1152del	ENSP00000504282.1:n.*1151_*1152del
ENST00000677160.1:n.2951_2952del
ENST00000677416.1:n.2998_2999del
ENST00000677486.1:c.*1021_*1022del	ENSP00000503852.1:n.*1021_*1022del
ENST00000677709.1:n.2377_2378del
ENST00000678011.1:n.2577_2578del
ENST00000678432.1:c.*1451_*1452del	ENSP00000504452.1:n.*1451_*1452del
ENST00000678463.1:c.1594_1595del	ENSP00000502984.1:p.Leu532SerfsTer18
ENST00000678568.1:c.*1001_*1002del	ENSP00000504754.1:n.*1001_*1002del
ENST00000678641.1:c.*1021_*1022del	ENSP00000503159.1:n.*1021_*1022del
ENST00000678763.1:n.1992_1993del
ENST00000313863.10:c.*89_*90del	ENSP00000316631.6:n.*89_*90del
ENST00000393119.6:c.1677_1678del	ENSP00000376827.2:p.Ter560AlaextTer?
ENST00000393120.6:c.*1084_*1085del	ENSP00000376828.2:n.*1084_*1085del
ENST00000537529.6:c.1647_1648del	ENSP00000442096.2:p.Ter550AlaextTer?
ENST00000583577.1:n.503_504del
NM_001165927.1:c.1647_1648del , LRG_687t2:c.1647_1648del	NP_001159399.1:p.Ter550AlaextTer?
NM_017777.3:c.1677_1678del , LRG_687t1:c.1677_1678del	NP_060247.2:p.Ter560AlaextTer?
XM_005257483.3:c.1594_1595del	XP_005257540.1:p.Leu532SerfsTer18
XM_005257485.3:c.1165_1166del	XP_005257542.1:p.Leu389SerfsTer18
XM_005257486.3:c.1068_1069del	XP_005257543.1:p.Ter357AlaextTer?
XM_006721965.2:c.985_986del	XP_006722028.1:p.Leu329SerfsTer18
XM_011524957.1:c.1603_1604del	XP_011523259.1:p.Leu535SerfsTer18
XM_011524958.1:c.1686_1687del	XP_011523260.1:p.Ter563AlaextTer?
XM_011524959.1:c.*89_*90del	XP_011523261.1:n.*89_*90del
NM_001321268.1:c.1068_1069del	NP_001308197.1:p.Ter357AlaextTer?
NM_001321269.1:c.1594_1595del	NP_001308198.1:p.Leu532SerfsTer18
NM_001330397.1:c.*89_*90del	NP_001317326.1:n.*89_*90del
XM_005257485.4:c.1165_1166del	XP_005257542.1:p.Leu389SerfsTer18
XM_006721965.3:c.985_986del	XP_006722028.1:p.Leu329SerfsTer18
XM_011524957.2:c.1603_1604del	XP_011523259.1:p.Leu535SerfsTer18
XM_011524958.2:c.1686_1687del	XP_011523260.1:p.Ter563AlaextTer?
XM_011524959.2:c.*89_*90del	XP_011523261.1:n.*89_*90del
XM_017024805.1:c.1248_1249del	XP_016880294.1:p.Ter417AlaextTer?
XR_002958042.1:n.1605_1606del
NM_001321268.2:c.1068_1069del	NP_001308197.1:p.Ter357AlaextTer?
NM_001321269.2:c.1594_1595del	NP_001308198.1:p.Leu532SerfsTer18
NM_001330397.2:c.*89_*90del	NP_001317326.1:n.*89_*90del
NM_017777.4:c.1677_1678del MANE Select	NP_060247.2:p.Ter560AlaextTer?