Canonical Allele Identifier: CA2267604905

Gene: MKS1

Linked Data

• ClinVar Variation Id: 2676556
• ClinVar RCV Id: RCV003476487
• dbSNP Id: rs751818062
• gnomAD v4: 17-58213073-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58213078dup , CM000679.2:g.58213078dup	GRCh38
NC_000017.10:g.56290439dup , CM000679.1:g.56290439dup	GRCh37
NC_000017.9:g.53645438dup	NCBI36
NG_013032.1:g.11532dup , LRG_687:g.11532dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.766dup	ENSP00000316631.6:p.Glu256GlyfsTer?
ENST00000393119.7:c.766dup MANE Select	ENSP00000376827.2:p.Glu256GlyfsTer?
ENST00000537529.7:c.337dup	ENSP00000442096.3:p.Glu113GlyfsTer?
ENST00000580127.6:c.766dup	ENSP00000462423.2:p.Glu256GlyfsTer?
ENST00000581761.6:c.766dup	ENSP00000462129.2:p.Glu256GlyfsTer?
ENST00000585134.2:c.766dup	ENSP00000463826.2:p.Glu256GlyfsTer?
ENST00000675753.2:c.*385dup	ENSP00000502156.1:n.*385dup
ENST00000676787.1:c.637dup	ENSP00000503999.1:p.Glu213GlyfsTer?
ENST00000676975.1:c.631dup	ENSP00000503970.1:n.631dup
ENST00000677076.1:n.2040dup
ENST00000677111.1:c.766dup	ENSP00000504282.1:p.Glu256GlyfsTer?
ENST00000677160.1:n.2040dup
ENST00000677416.1:n.791dup
ENST00000677475.1:n.2717dup
ENST00000677486.1:c.*110dup	ENSP00000503852.1:n.*110dup
ENST00000677546.1:c.*110dup	ENSP00000504043.1:n.*110dup
ENST00000677709.1:n.791dup
ENST00000678011.1:n.791dup
ENST00000678211.1:n.2815dup
ENST00000678432.1:c.*385dup	ENSP00000504452.1:n.*385dup
ENST00000678463.1:c.766dup	ENSP00000502984.1:p.Glu256GlyfsTer?
ENST00000678481.1:n.567dup
ENST00000678568.1:c.*173dup	ENSP00000504754.1:n.*173dup
ENST00000678641.1:c.*110dup	ENSP00000503159.1:n.*110dup
ENST00000678928.1:n.2393dup
ENST00000679081.1:n.2782dup
ENST00000313863.10:c.766dup	ENSP00000316631.6:p.Glu256GlyfsTer?
ENST00000393119.6:c.766dup	ENSP00000376827.2:p.Glu256GlyfsTer?
ENST00000393120.6:c.*173dup	ENSP00000376828.2:n.*173dup
ENST00000537529.6:c.736dup	ENSP00000442096.2:p.Glu246GlyfsTer?
ENST00000577824.5:c.243dup
ENST00000581761.5:c.*173dup	ENSP00000462129.1:n.*173dup
NM_001165927.1:c.736dup , LRG_687t2:c.736dup	NP_001159399.1:p.Glu246GlyfsTer?
NM_017777.3:c.766dup , LRG_687t1:c.766dup	NP_060247.2:p.Glu256GlyfsTer?
XM_005257483.3:c.766dup	XP_005257540.1:p.Glu256GlyfsTer?
XM_005257485.3:c.337dup	XP_005257542.1:p.Glu113GlyfsTer?
XM_005257486.3:c.157dup	XP_005257543.1:p.Glu53GlyfsTer?
XM_006721965.2:c.157dup	XP_006722028.1:p.Glu53GlyfsTer?
XM_011524957.1:c.775dup	XP_011523259.1:p.Glu259GlyfsTer?
XM_011524958.1:c.775dup	XP_011523260.1:p.Glu259GlyfsTer?
XM_011524959.1:c.775dup	XP_011523261.1:p.Glu259GlyfsTer?
XM_011524960.1:c.775dup	XP_011523262.1:p.Glu259GlyfsTer?
XR_934494.1:n.823dup
NM_001321268.1:c.157dup	NP_001308197.1:p.Glu53GlyfsTer?
NM_001321269.1:c.766dup	NP_001308198.1:p.Glu256GlyfsTer?
NM_001330397.1:c.766dup	NP_001317326.1:p.Glu256GlyfsTer?
XM_005257485.4:c.337dup	XP_005257542.1:p.Glu113GlyfsTer?
XM_006721965.3:c.157dup	XP_006722028.1:p.Glu53GlyfsTer?
XM_011524957.2:c.775dup	XP_011523259.1:p.Glu259GlyfsTer?
XM_011524958.2:c.775dup	XP_011523260.1:p.Glu259GlyfsTer?
XM_011524959.2:c.775dup	XP_011523261.1:p.Glu259GlyfsTer?
XM_011524960.2:c.775dup	XP_011523262.1:p.Glu259GlyfsTer?
XM_017024804.2:c.766dup	XP_016880293.1:p.Glu256GlyfsTer?
XM_017024805.1:c.337dup	XP_016880294.1:p.Glu113GlyfsTer?
XR_002958042.1:n.820dup
NM_001321268.2:c.157dup	NP_001308197.1:p.Glu53GlyfsTer?
NM_001321269.2:c.766dup	NP_001308198.1:p.Glu256GlyfsTer?
NM_001330397.2:c.766dup	NP_001317326.1:p.Glu256GlyfsTer?
NM_017777.4:c.766dup MANE Select	NP_060247.2:p.Glu256GlyfsTer?