Canonical Allele Identifier: CA645579151

Gene: MKS1

Linked Data

• gnomAD v4: 17-58213005-GCTC-G
• COSMIC: COSM5853073 ; COSM5853074

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58213016_58213018del , CM000679.2:g.58213016_58213018del	GRCh38
NC_000017.10:g.56290377_56290379del , CM000679.1:g.56290377_56290379del	GRCh37
NC_000017.9:g.53645376_53645378del	NCBI36
NG_013032.1:g.11598_11600del , LRG_687:g.11598_11600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.832_834del	ENSP00000316631.6:p.Glu278del
ENST00000393119.7:c.832_834del MANE Select	ENSP00000376827.2:p.Glu278del
ENST00000537529.7:c.403_405del	ENSP00000442096.3:p.Glu135del
ENST00000580127.6:c.832_834del	ENSP00000462423.2:p.Glu278del
ENST00000581761.6:c.832_834del	ENSP00000462129.2:p.Glu278del
ENST00000585134.2:c.832_834del	ENSP00000463826.2:p.Glu278del
ENST00000675753.2:c.*451_*453del	ENSP00000502156.1:n.*451_*453del
ENST00000676787.1:c.703_705del	ENSP00000503999.1:p.Glu235del
ENST00000676975.1:c.697_699del	ENSP00000503970.1:n.697_699del
ENST00000677076.1:n.2106_2108del
ENST00000677111.1:c.832_834del	ENSP00000504282.1:p.Glu278del
ENST00000677160.1:n.2106_2108del
ENST00000677416.1:n.857_859del
ENST00000677475.1:n.2783_2785del
ENST00000677486.1:c.*176_*178del	ENSP00000503852.1:n.*176_*178del
ENST00000677546.1:c.*176_*178del	ENSP00000504043.1:n.*176_*178del
ENST00000677709.1:n.857_859del
ENST00000678011.1:n.857_859del
ENST00000678211.1:n.2881_2883del
ENST00000678432.1:c.*451_*453del	ENSP00000504452.1:n.*451_*453del
ENST00000678463.1:c.832_834del	ENSP00000502984.1:p.Glu278del
ENST00000678481.1:n.633_635del
ENST00000678568.1:c.*239_*241del	ENSP00000504754.1:n.*239_*241del
ENST00000678641.1:c.*176_*178del	ENSP00000503159.1:n.*176_*178del
ENST00000678928.1:n.2459_2461del
ENST00000679081.1:n.2848_2850del
ENST00000313863.10:c.832_834del	ENSP00000316631.6:p.Glu278del
ENST00000393119.6:c.832_834del	ENSP00000376827.2:p.Glu278del
ENST00000393120.6:c.*239_*241del	ENSP00000376828.2:n.*239_*241del
ENST00000537529.6:c.802_804del	ENSP00000442096.2:p.Glu268del
ENST00000577824.5:c.309_311del
ENST00000581761.5:c.*239_*241del	ENSP00000462129.1:n.*239_*241del
ENST00000585134.1:c.55_57del	ENSP00000463826.1:p.Glu19del
NM_001165927.1:c.802_804del , LRG_687t2:c.802_804del	NP_001159399.1:p.Glu268del
NM_017777.3:c.832_834del , LRG_687t1:c.832_834del	NP_060247.2:p.Glu278del
XM_005257483.3:c.832_834del	XP_005257540.1:p.Glu278del
XM_005257485.3:c.403_405del	XP_005257542.1:p.Glu135del
XM_005257486.3:c.223_225del	XP_005257543.1:p.Glu75del
XM_006721965.2:c.223_225del	XP_006722028.1:p.Glu75del
XM_011524957.1:c.841_843del	XP_011523259.1:p.Glu281del
XM_011524958.1:c.841_843del	XP_011523260.1:p.Glu281del
XM_011524959.1:c.841_843del	XP_011523261.1:p.Glu281del
XM_011524960.1:c.841_843del	XP_011523262.1:p.Glu281del
XR_934494.1:n.889_891del
NM_001321268.1:c.223_225del	NP_001308197.1:p.Glu75del
NM_001321269.1:c.832_834del	NP_001308198.1:p.Glu278del
NM_001330397.1:c.832_834del	NP_001317326.1:p.Glu278del
XM_005257485.4:c.403_405del	XP_005257542.1:p.Glu135del
XM_006721965.3:c.223_225del	XP_006722028.1:p.Glu75del
XM_011524957.2:c.841_843del	XP_011523259.1:p.Glu281del
XM_011524958.2:c.841_843del	XP_011523260.1:p.Glu281del
XM_011524959.2:c.841_843del	XP_011523261.1:p.Glu281del
XM_011524960.2:c.841_843del	XP_011523262.1:p.Glu281del
XM_017024804.2:c.832_834del	XP_016880293.1:p.Glu278del
XM_017024805.1:c.403_405del	XP_016880294.1:p.Glu135del
XR_002958042.1:n.886_888del
NM_001321268.2:c.223_225del	NP_001308197.1:p.Glu75del
NM_001321269.2:c.832_834del	NP_001308198.1:p.Glu278del
NM_001330397.2:c.832_834del	NP_001317326.1:p.Glu278del
NM_017777.4:c.832_834del MANE Select	NP_060247.2:p.Glu278del