Canonical Allele Identifier: CA2267604861

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58213005_58213006delinsGC , CM000679.2:g.58213005_58213006delinsGC	GRCh38
NC_000017.10:g.56290366_56290367delinsGC , CM000679.1:g.56290366_56290367delinsGC	GRCh37
NC_000017.9:g.53645365_53645366delinsGC	NCBI36
NG_013032.1:g.11600_11601delinsGC , LRG_687:g.11600_11601delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.834_835delinsGC	ENSP00000316631.6:p.Glu278=
ENST00000393119.7:c.834_835delinsGC MANE Select	ENSP00000376827.2:p.Glu278=
ENST00000537529.7:c.405_406delinsGC	ENSP00000442096.3:p.Glu135=
ENST00000580127.6:c.834_835delinsGC	ENSP00000462423.2:p.Glu278=
ENST00000581761.6:c.834_835delinsGC	ENSP00000462129.2:p.Glu278=
ENST00000585134.2:c.834_835delinsGC	ENSP00000463826.2:p.Glu278=
ENST00000675753.2:c.*453_*454delinsGC	ENSP00000502156.1:n.*453_*454delinsGC
ENST00000676787.1:c.705_706delinsGC	ENSP00000503999.1:p.Glu235=
ENST00000676975.1:c.699_700delinsGC	ENSP00000503970.1:n.699_700delinsGC
ENST00000677076.1:n.2108_2109delinsGC
ENST00000677111.1:c.834_835delinsGC	ENSP00000504282.1:p.Glu278=
ENST00000677160.1:n.2108_2109delinsGC
ENST00000677416.1:n.859_860delinsGC
ENST00000677475.1:n.2785_2786delinsGC
ENST00000677486.1:c.*178_*179delinsGC	ENSP00000503852.1:n.*178_*179delinsGC
ENST00000677546.1:c.*178_*179delinsGC	ENSP00000504043.1:n.*178_*179delinsGC
ENST00000677709.1:n.859_860delinsGC
ENST00000678011.1:n.859_860delinsGC
ENST00000678211.1:n.2883_2884delinsGC
ENST00000678432.1:c.*453_*454delinsGC	ENSP00000504452.1:n.*453_*454delinsGC
ENST00000678463.1:c.834_835delinsGC	ENSP00000502984.1:p.Glu278=
ENST00000678481.1:n.635_636delinsGC
ENST00000678568.1:c.*241_*242delinsGC	ENSP00000504754.1:n.*241_*242delinsGC
ENST00000678641.1:c.*178_*179delinsGC	ENSP00000503159.1:n.*178_*179delinsGC
ENST00000678928.1:n.2461_2462delinsGC
ENST00000679081.1:n.2850_2851delinsGC
ENST00000313863.10:c.834_835delinsGC	ENSP00000316631.6:p.Glu278=
ENST00000393119.6:c.834_835delinsGC	ENSP00000376827.2:p.Glu278=
ENST00000393120.6:c.*241_*242delinsGC	ENSP00000376828.2:n.*241_*242delinsGC
ENST00000537529.6:c.804_805delinsGC	ENSP00000442096.2:p.Glu268=
ENST00000577824.5:c.311_312delinsGC
ENST00000581761.5:c.*241_*242delinsGC	ENSP00000462129.1:n.*241_*242delinsGC
ENST00000585134.1:c.57_58delinsGC	ENSP00000463826.1:p.Glu19=
NM_001165927.1:c.804_805delinsGC , LRG_687t2:c.804_805delinsGC	NP_001159399.1:p.Glu268=
NM_017777.3:c.834_835delinsGC , LRG_687t1:c.834_835delinsGC	NP_060247.2:p.Glu278=
XM_005257483.3:c.834_835delinsGC	XP_005257540.1:p.Glu278=
XM_005257485.3:c.405_406delinsGC	XP_005257542.1:p.Glu135=
XM_005257486.3:c.225_226delinsGC	XP_005257543.1:p.Glu75=
XM_006721965.2:c.225_226delinsGC	XP_006722028.1:p.Glu75=
XM_011524957.1:c.843_844delinsGC	XP_011523259.1:p.Glu281=
XM_011524958.1:c.843_844delinsGC	XP_011523260.1:p.Glu281=
XM_011524959.1:c.843_844delinsGC	XP_011523261.1:p.Glu281=
XM_011524960.1:c.843_844delinsGC	XP_011523262.1:p.Glu281=
XR_934494.1:n.891_892delinsGC
NM_001321268.1:c.225_226delinsGC	NP_001308197.1:p.Glu75=
NM_001321269.1:c.834_835delinsGC	NP_001308198.1:p.Glu278=
NM_001330397.1:c.834_835delinsGC	NP_001317326.1:p.Glu278=
XM_005257485.4:c.405_406delinsGC	XP_005257542.1:p.Glu135=
XM_006721965.3:c.225_226delinsGC	XP_006722028.1:p.Glu75=
XM_011524957.2:c.843_844delinsGC	XP_011523259.1:p.Glu281=
XM_011524958.2:c.843_844delinsGC	XP_011523260.1:p.Glu281=
XM_011524959.2:c.843_844delinsGC	XP_011523261.1:p.Glu281=
XM_011524960.2:c.843_844delinsGC	XP_011523262.1:p.Glu281=
XM_017024804.2:c.834_835delinsGC	XP_016880293.1:p.Glu278=
XM_017024805.1:c.405_406delinsGC	XP_016880294.1:p.Glu135=
XR_002958042.1:n.888_889delinsGC
NM_001321268.2:c.225_226delinsGC	NP_001308197.1:p.Glu75=
NM_001321269.2:c.834_835delinsGC	NP_001308198.1:p.Glu278=
NM_001330397.2:c.834_835delinsGC	NP_001317326.1:p.Glu278=
NM_017777.4:c.834_835delinsGC MANE Select	NP_060247.2:p.Glu278=