Canonical Allele Identifier: CA2842941082
Gene: MKS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58206155dup , CM000679.2:g.58206155dup GRCh38
NC_000017.10:g.56283516dup , CM000679.1:g.56283516dup GRCh37
NC_000017.9:g.53638515dup NCBI36
NG_013020.1:g.18428dup
NG_013032.1:g.18453dup , LRG_687:g.18453dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000313863.11:c.*18dup ENSP00000316631.6:n.*18dup
ENST00000393119.7:c.1606dup MANE Select ENSP00000376827.2:p.Arg536ProfsTer?
ENST00000537529.7:c.1177dup ENSP00000442096.3:p.Arg393ProfsTer?
ENST00000675753.2:c.*1225dup ENSP00000502156.1:n.*1225dup
ENST00000676787.1:c.1477dup ENSP00000503999.1:p.Arg493ProfsTer?
ENST00000677111.1:c.*1080dup ENSP00000504282.1:n.*1080dup
ENST00000677160.1:n.2880dup
ENST00000677416.1:n.2927dup
ENST00000677486.1:c.*950dup ENSP00000503852.1:n.*950dup
ENST00000677709.1:n.2306dup
ENST00000678011.1:n.2506dup
ENST00000678432.1:c.*1380dup ENSP00000504452.1:n.*1380dup
ENST00000678463.1:c.1523dup ENSP00000502984.1:p.Ala509GlyfsTer15
ENST00000678568.1:c.*930dup ENSP00000504754.1:n.*930dup
ENST00000678641.1:c.*950dup ENSP00000503159.1:n.*950dup
ENST00000678763.1:n.1921dup
ENST00000313863.10:c.*18dup ENSP00000316631.6:n.*18dup
ENST00000393119.6:c.1606dup ENSP00000376827.2:p.Arg536ProfsTer?
ENST00000393120.6:c.*1013dup ENSP00000376828.2:n.*1013dup
ENST00000537529.6:c.1576dup ENSP00000442096.2:p.Arg526ProfsTer?
ENST00000583577.1:n.432dup
NM_001165927.1:c.1576dup , LRG_687t2:c.1576dup NP_001159399.1:p.Arg526ProfsTer?
NM_017777.3:c.1606dup , LRG_687t1:c.1606dup NP_060247.2:p.Arg536ProfsTer?
XM_005257483.3:c.1523dup XP_005257540.1:p.Ala509GlyfsTer15
XM_005257485.3:c.1094dup XP_005257542.1:p.Ala366GlyfsTer15
XM_005257486.3:c.997dup XP_005257543.1:p.Arg333ProfsTer?
XM_006721965.2:c.914dup XP_006722028.1:p.Ala306GlyfsTer15
XM_011524957.1:c.1532dup XP_011523259.1:p.Ala512GlyfsTer15
XM_011524958.1:c.1615dup XP_011523260.1:p.Arg539ProfsTer?
XM_011524959.1:c.*18dup XP_011523261.1:n.*18dup
NM_001321268.1:c.997dup NP_001308197.1:p.Arg333ProfsTer?
NM_001321269.1:c.1523dup NP_001308198.1:p.Ala509GlyfsTer15
NM_001330397.1:c.*18dup NP_001317326.1:n.*18dup
XM_005257485.4:c.1094dup XP_005257542.1:p.Ala366GlyfsTer15
XM_006721965.3:c.914dup XP_006722028.1:p.Ala306GlyfsTer15
XM_011524957.2:c.1532dup XP_011523259.1:p.Ala512GlyfsTer15
XM_011524958.2:c.1615dup XP_011523260.1:p.Arg539ProfsTer?
XM_011524959.2:c.*18dup XP_011523261.1:n.*18dup
XM_017024805.1:c.1177dup XP_016880294.1:p.Arg393ProfsTer?
XR_002958042.1:n.1534dup
NM_001321268.2:c.997dup NP_001308197.1:p.Arg333ProfsTer?
NM_001321269.2:c.1523dup NP_001308198.1:p.Ala509GlyfsTer15
NM_001330397.2:c.*18dup NP_001317326.1:n.*18dup
NM_017777.4:c.1606dup MANE Select NP_060247.2:p.Arg536ProfsTer?