Canonical Allele Identifier: CA2267605605

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58214845_58214849delinsAAAGC , CM000679.2:g.58214845_58214849delinsAAAGC	GRCh38
NC_000017.10:g.56292206_56292210delinsAAAGC , CM000679.1:g.56292206_56292210delinsAAAGC	GRCh37
NC_000017.9:g.53647205_53647209delinsAAAGC	NCBI36
NG_013032.1:g.9757_9761delinsGCTTT , LRG_687:g.9757_9761delinsGCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.418-11_418-7delinsGCTTT	ENSP00000316631.6:n.418-11_418-7delinsGCTTT
ENST00000393119.7:c.418-11_418-7delinsGCTTT MANE Select	ENSP00000376827.2:n.418-11_418-7delinsGCTTT
ENST00000537529.7:c.-12-11_-12-7delinsGCTTT	ENSP00000442096.3:n.-12-11_-12-7delinsGCTTT
ENST00000580127.6:c.418-11_418-7delinsGCTTT	ENSP00000462423.2:n.418-11_418-7delinsGCTTT
ENST00000581761.6:c.418-11_418-7delinsGCTTT	ENSP00000462129.2:n.418-11_418-7delinsGCTTT
ENST00000585134.2:c.418-11_418-7delinsGCTTT	ENSP00000463826.2:n.418-11_418-7delinsGCTTT
ENST00000675753.2:c.*26_*30delinsGCTTT	ENSP00000502156.1:n.*26_*30delinsGCTTT
ENST00000676787.1:c.418-11_418-7delinsGCTTT	ENSP00000503999.1:n.418-11_418-7delinsGCTTT
ENST00000676975.1:c.272_276delinsGCTTT	ENSP00000503970.1:n.272_276delinsGCTTT
ENST00000677076.1:n.1681_1685delinsGCTTT
ENST00000677111.1:c.418-11_418-7delinsGCTTT	ENSP00000504282.1:n.418-11_418-7delinsGCTTT
ENST00000677160.1:n.1681_1685delinsGCTTT
ENST00000677416.1:n.443-11_443-7delinsGCTTT
ENST00000677475.1:n.1684_1688delinsGCTTT
ENST00000677486.1:c.262-980_262-976delinsGCTTT	ENSP00000503852.1:n.262-980_262-976delinsGCTTT
ENST00000677546.1:c.418-980_418-976delinsGCTTT	ENSP00000504043.1:n.418-980_418-976delinsGCTTT
ENST00000677709.1:n.443-11_443-7delinsGCTTT
ENST00000677791.1:n.446-11_446-7delinsGCTTT
ENST00000678011.1:n.443-11_443-7delinsGCTTT
ENST00000678211.1:n.2103_2107delinsGCTTT
ENST00000678432.1:c.*26_*30delinsGCTTT	ENSP00000504452.1:n.*26_*30delinsGCTTT
ENST00000678463.1:c.418-11_418-7delinsGCTTT	ENSP00000502984.1:n.418-11_418-7delinsGCTTT
ENST00000678481.1:n.446-980_446-976delinsGCTTT
ENST00000678568.1:c.191-11_191-7delinsGCTTT	ENSP00000504754.1:n.191-11_191-7delinsGCTTT
ENST00000678641.1:c.418-980_418-976delinsGCTTT	ENSP00000503159.1:n.418-980_418-976delinsGCTTT
ENST00000678928.1:n.1681_1685delinsGCTTT
ENST00000679081.1:n.1681_1685delinsGCTTT
ENST00000313863.10:c.418-11_418-7delinsGCTTT	ENSP00000316631.6:n.418-11_418-7delinsGCTTT
ENST00000393119.6:c.418-11_418-7delinsGCTTT	ENSP00000376827.2:n.418-11_418-7delinsGCTTT
ENST00000393120.6:c.418-462_418-458delinsGCTTT	ENSP00000376828.2:n.418-462_418-458delinsGCTTT
ENST00000537529.6:c.388-11_388-7delinsGCTTT	ENSP00000442096.2:n.388-11_388-7delinsGCTTT
ENST00000578789.1:c.*161-11_*161-7delinsGCTTT	ENSP00000462411.1:n.*161-11_*161-7delinsGCTTT
ENST00000580127.5:c.*26_*30delinsGCTTT	ENSP00000462423.1:n.*26_*30delinsGCTTT
ENST00000581761.5:c.191-11_191-7delinsGCTTT	ENSP00000462129.1:n.191-11_191-7delinsGCTTT
NM_001165927.1:c.388-11_388-7delinsGCTTT , LRG_687t2:c.388-11_388-7delinsGCTTT	NP_001159399.1:n.388-11_388-7delinsGCTTT
NM_017777.3:c.418-11_418-7delinsGCTTT , LRG_687t1:c.418-11_418-7delinsGCTTT	NP_060247.2:n.418-11_418-7delinsGCTTT
XM_005257483.3:c.418-11_418-7delinsGCTTT	XP_005257540.1:n.418-11_418-7delinsGCTTT
XM_005257485.3:c.-23_-19delinsGCTTT	XP_005257542.1:n.-23_-19delinsGCTTT
XM_005257486.3:c.-94-462_-94-458delinsGCTTT	XP_005257543.1:n.-94-462_-94-458delinsGCTTT
XM_006721965.2:c.-94-462_-94-458delinsGCTTT	XP_006722028.1:n.-94-462_-94-458delinsGCTTT
XM_011524957.1:c.427-11_427-7delinsGCTTT	XP_011523259.1:n.427-11_427-7delinsGCTTT
XM_011524958.1:c.427-11_427-7delinsGCTTT	XP_011523260.1:n.427-11_427-7delinsGCTTT
XM_011524959.1:c.427-11_427-7delinsGCTTT	XP_011523261.1:n.427-11_427-7delinsGCTTT
XM_011524960.1:c.427-11_427-7delinsGCTTT	XP_011523262.1:n.427-11_427-7delinsGCTTT
XR_934494.1:n.475-11_475-7delinsGCTTT
NM_001321268.1:c.-94-462_-94-458delinsGCTTT	NP_001308197.1:n.-94-462_-94-458delinsGCTTT
NM_001321269.1:c.418-11_418-7delinsGCTTT	NP_001308198.1:n.418-11_418-7delinsGCTTT
NM_001330397.1:c.418-11_418-7delinsGCTTT	NP_001317326.1:n.418-11_418-7delinsGCTTT
XM_005257485.4:c.-23_-19delinsGCTTT	XP_005257542.1:n.-23_-19delinsGCTTT
XM_006721965.3:c.-94-462_-94-458delinsGCTTT	XP_006722028.1:n.-94-462_-94-458delinsGCTTT
XM_011524957.2:c.427-11_427-7delinsGCTTT	XP_011523259.1:n.427-11_427-7delinsGCTTT
XM_011524958.2:c.427-11_427-7delinsGCTTT	XP_011523260.1:n.427-11_427-7delinsGCTTT
XM_011524959.2:c.427-11_427-7delinsGCTTT	XP_011523261.1:n.427-11_427-7delinsGCTTT
XM_011524960.2:c.427-11_427-7delinsGCTTT	XP_011523262.1:n.427-11_427-7delinsGCTTT
XM_017024804.2:c.418-11_418-7delinsGCTTT	XP_016880293.1:n.418-11_418-7delinsGCTTT
XM_017024805.1:c.-23_-19delinsGCTTT	XP_016880294.1:n.-23_-19delinsGCTTT
XR_002958042.1:n.472-11_472-7delinsGCTTT
NM_001321268.2:c.-94-462_-94-458delinsGCTTT	NP_001308197.1:n.-94-462_-94-458delinsGCTTT
NM_001321269.2:c.418-11_418-7delinsGCTTT	NP_001308198.1:n.418-11_418-7delinsGCTTT
NM_001330397.2:c.418-11_418-7delinsGCTTT	NP_001317326.1:n.418-11_418-7delinsGCTTT
NM_017777.4:c.418-11_418-7delinsGCTTT MANE Select	NP_060247.2:n.418-11_418-7delinsGCTTT