Canonical Allele Identifier: CA2842941081

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206096dup , CM000679.2:g.58206096dup	GRCh38
NC_000017.10:g.56283457dup , CM000679.1:g.56283457dup	GRCh37
NC_000017.9:g.53638456dup	NCBI36
NG_013020.1:g.18369dup
NG_013032.1:g.18511dup , LRG_687:g.18511dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.*76dup	ENSP00000316631.6:n.*76dup
ENST00000393119.7:c.1664dup MANE Select	ENSP00000376827.2:p.Thr556AsnfsTer?
ENST00000537529.7:c.1235dup	ENSP00000442096.3:p.Thr413AsnfsTer?
ENST00000675753.2:c.*1283dup	ENSP00000502156.1:n.*1283dup
ENST00000676787.1:c.1535dup	ENSP00000503999.1:p.Thr513AsnfsTer?
ENST00000677111.1:c.*1138dup	ENSP00000504282.1:n.*1138dup
ENST00000677160.1:n.2938dup
ENST00000677416.1:n.2985dup
ENST00000677486.1:c.*1008dup	ENSP00000503852.1:n.*1008dup
ENST00000677709.1:n.2364dup
ENST00000678011.1:n.2564dup
ENST00000678432.1:c.*1438dup	ENSP00000504452.1:n.*1438dup
ENST00000678463.1:c.1581dup	ENSP00000502984.1:p.Asn528GlufsTer23
ENST00000678568.1:c.*988dup	ENSP00000504754.1:n.*988dup
ENST00000678641.1:c.*1008dup	ENSP00000503159.1:n.*1008dup
ENST00000678763.1:n.1979dup
ENST00000313863.10:c.*76dup	ENSP00000316631.6:n.*76dup
ENST00000393119.6:c.1664dup	ENSP00000376827.2:p.Thr556AsnfsTer?
ENST00000393120.6:c.*1071dup	ENSP00000376828.2:n.*1071dup
ENST00000537529.6:c.1634dup	ENSP00000442096.2:p.Thr546AsnfsTer?
ENST00000583577.1:n.490dup
NM_001165927.1:c.1634dup , LRG_687t2:c.1634dup	NP_001159399.1:p.Thr546AsnfsTer?
NM_017777.3:c.1664dup , LRG_687t1:c.1664dup	NP_060247.2:p.Thr556AsnfsTer?
XM_005257483.3:c.1581dup	XP_005257540.1:p.Asn528GlufsTer23
XM_005257485.3:c.1152dup	XP_005257542.1:p.Asn385GlufsTer23
XM_005257486.3:c.1055dup	XP_005257543.1:p.Thr353AsnfsTer?
XM_006721965.2:c.972dup	XP_006722028.1:p.Asn325GlufsTer23
XM_011524957.1:c.1590dup	XP_011523259.1:p.Asn531GlufsTer23
XM_011524958.1:c.1673dup	XP_011523260.1:p.Thr559AsnfsTer?
XM_011524959.1:c.*76dup	XP_011523261.1:n.*76dup
NM_001321268.1:c.1055dup	NP_001308197.1:p.Thr353AsnfsTer?
NM_001321269.1:c.1581dup	NP_001308198.1:p.Asn528GlufsTer23
NM_001330397.1:c.*76dup	NP_001317326.1:n.*76dup
XM_005257485.4:c.1152dup	XP_005257542.1:p.Asn385GlufsTer23
XM_006721965.3:c.972dup	XP_006722028.1:p.Asn325GlufsTer23
XM_011524957.2:c.1590dup	XP_011523259.1:p.Asn531GlufsTer23
XM_011524958.2:c.1673dup	XP_011523260.1:p.Thr559AsnfsTer?
XM_011524959.2:c.*76dup	XP_011523261.1:n.*76dup
XM_017024805.1:c.1235dup	XP_016880294.1:p.Thr413AsnfsTer?
XR_002958042.1:n.1592dup
NM_001321268.2:c.1055dup	NP_001308197.1:p.Thr353AsnfsTer?
NM_001321269.2:c.1581dup	NP_001308198.1:p.Asn528GlufsTer23
NM_001330397.2:c.*76dup	NP_001317326.1:n.*76dup
NM_017777.4:c.1664dup MANE Select	NP_060247.2:p.Thr556AsnfsTer?