Canonical Allele Identifier: CA773497645

Gene: MKS1

Linked Data

• dbSNP Id: rs1273874725
• MyVariant Identifiers: chr17:g.56290305_56290312del (hg19) ; chr17:g.58212944_58212951del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58212944_58212951del , CM000679.2:g.58212944_58212951del	GRCh38
NC_000017.10:g.56290305_56290312del , CM000679.1:g.56290305_56290312del	GRCh37
NC_000017.9:g.53645304_53645311del	NCBI36
NG_013032.1:g.11655_11662del , LRG_687:g.11655_11662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.858+31_858+38del	ENSP00000316631.6:n.858+31_858+38del
ENST00000393119.7:c.858+31_858+38del MANE Select	ENSP00000376827.2:n.858+31_858+38del
ENST00000537529.7:c.429+31_429+38del	ENSP00000442096.3:n.429+31_429+38del
ENST00000580127.6:c.858+31_858+38del	ENSP00000462423.2:n.858+31_858+38del
ENST00000581761.6:c.858+31_858+38del	ENSP00000462129.2:n.858+31_858+38del
ENST00000585134.2:c.858+31_858+38del	ENSP00000463826.2:n.858+31_858+38del
ENST00000675753.2:c.*477+31_*477+38del	ENSP00000502156.1:n.*477+31_*477+38del
ENST00000676787.1:c.729+31_729+38del	ENSP00000503999.1:n.729+31_729+38del
ENST00000676975.1:c.723+31_723+38del	ENSP00000503970.1:n.723+31_723+38del
ENST00000677076.1:n.2132+31_2132+38del
ENST00000677111.1:c.858+31_858+38del	ENSP00000504282.1:n.858+31_858+38del
ENST00000677160.1:n.2132+31_2132+38del
ENST00000677416.1:n.883+31_883+38del
ENST00000677475.1:n.2809+31_2809+38del
ENST00000677486.1:c.*202+31_*202+38del	ENSP00000503852.1:n.*202+31_*202+38del
ENST00000677546.1:c.*202+31_*202+38del	ENSP00000504043.1:n.*202+31_*202+38del
ENST00000677709.1:n.883+31_883+38del
ENST00000678011.1:n.883+31_883+38del
ENST00000678211.1:n.2938_2945del
ENST00000678432.1:c.*477+31_*477+38del	ENSP00000504452.1:n.*477+31_*477+38del
ENST00000678463.1:c.858+31_858+38del	ENSP00000502984.1:n.858+31_858+38del
ENST00000678481.1:n.659+31_659+38del
ENST00000678568.1:c.*265+31_*265+38del	ENSP00000504754.1:n.*265+31_*265+38del
ENST00000678641.1:c.*202+31_*202+38del	ENSP00000503159.1:n.*202+31_*202+38del
ENST00000678928.1:n.2485+31_2485+38del
ENST00000679081.1:n.2905_2912del
ENST00000313863.10:c.858+31_858+38del	ENSP00000316631.6:n.858+31_858+38del
ENST00000393119.6:c.858+31_858+38del	ENSP00000376827.2:n.858+31_858+38del
ENST00000393120.6:c.*265+31_*265+38del	ENSP00000376828.2:n.*265+31_*265+38del
ENST00000537529.6:c.828+31_828+38del	ENSP00000442096.2:n.828+31_828+38del
ENST00000577824.5:c.335+31_335+38del
ENST00000581761.5:c.*265+31_*265+38del	ENSP00000462129.1:n.*265+31_*265+38del
ENST00000585134.1:c.81+31_81+38del	ENSP00000463826.1:n.81+31_81+38del
NM_001165927.1:c.828+31_828+38del , LRG_687t2:c.828+31_828+38del	NP_001159399.1:n.828+31_828+38del
NM_017777.3:c.858+31_858+38del , LRG_687t1:c.858+31_858+38del	NP_060247.2:n.858+31_858+38del
XM_005257483.3:c.858+31_858+38del	XP_005257540.1:n.858+31_858+38del
XM_005257485.3:c.429+31_429+38del	XP_005257542.1:n.429+31_429+38del
XM_005257486.3:c.249+31_249+38del	XP_005257543.1:n.249+31_249+38del
XM_006721965.2:c.249+31_249+38del	XP_006722028.1:n.249+31_249+38del
XM_011524957.1:c.867+31_867+38del	XP_011523259.1:n.867+31_867+38del
XM_011524958.1:c.867+31_867+38del	XP_011523260.1:n.867+31_867+38del
XM_011524959.1:c.867+31_867+38del	XP_011523261.1:n.867+31_867+38del
XM_011524960.1:c.867+31_867+38del	XP_011523262.1:n.867+31_867+38del
XR_934494.1:n.915+31_915+38del
NM_001321268.1:c.249+31_249+38del	NP_001308197.1:n.249+31_249+38del
NM_001321269.1:c.858+31_858+38del	NP_001308198.1:n.858+31_858+38del
NM_001330397.1:c.858+31_858+38del	NP_001317326.1:n.858+31_858+38del
XM_005257485.4:c.429+31_429+38del	XP_005257542.1:n.429+31_429+38del
XM_006721965.3:c.249+31_249+38del	XP_006722028.1:n.249+31_249+38del
XM_011524957.2:c.867+31_867+38del	XP_011523259.1:n.867+31_867+38del
XM_011524958.2:c.867+31_867+38del	XP_011523260.1:n.867+31_867+38del
XM_011524959.2:c.867+31_867+38del	XP_011523261.1:n.867+31_867+38del
XM_011524960.2:c.867+31_867+38del	XP_011523262.1:n.867+31_867+38del
XM_017024804.2:c.858+31_858+38del	XP_016880293.1:n.858+31_858+38del
XM_017024805.1:c.429+31_429+38del	XP_016880294.1:n.429+31_429+38del
XR_002958042.1:n.912+31_912+38del
NM_001321268.2:c.249+31_249+38del	NP_001308197.1:n.249+31_249+38del
NM_001321269.2:c.858+31_858+38del	NP_001308198.1:n.858+31_858+38del
NM_001330397.2:c.858+31_858+38del	NP_001317326.1:n.858+31_858+38del
NM_017777.4:c.858+31_858+38del MANE Select	NP_060247.2:n.858+31_858+38del