Canonical Allele Identifier: CA2809971377

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58213189_58213190insAGA , CM000679.2:g.58213189_58213190insAGA	GRCh38
NC_000017.10:g.56290550_56290551insAGA , CM000679.1:g.56290550_56290551insAGA	GRCh37
NC_000017.9:g.53645549_53645550insAGA	NCBI36
NG_013032.1:g.11416_11417insTCT , LRG_687:g.11416_11417insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.750-100_750-99insTCT	ENSP00000316631.6:n.750-100_750-99insTCT
ENST00000393119.7:c.750-100_750-99insTCT MANE Select	ENSP00000376827.2:n.750-100_750-99insTCT
ENST00000537529.7:c.321-100_321-99insTCT	ENSP00000442096.3:n.321-100_321-99insTCT
ENST00000580127.6:c.750-100_750-99insTCT	ENSP00000462423.2:n.750-100_750-99insTCT
ENST00000581761.6:c.750-100_750-99insTCT	ENSP00000462129.2:n.750-100_750-99insTCT
ENST00000585134.2:c.750-100_750-99insTCT	ENSP00000463826.2:n.750-100_750-99insTCT
ENST00000675753.2:c.*369-100_*369-99insTCT	ENSP00000502156.1:n.*369-100_*369-99insTCT
ENST00000676787.1:c.621-100_621-99insTCT	ENSP00000503999.1:n.621-100_621-99insTCT
ENST00000676975.1:c.615-100_615-99insTCT	ENSP00000503970.1:n.615-100_615-99insTCT
ENST00000677076.1:n.2024-100_2024-99insTCT
ENST00000677111.1:c.750-100_750-99insTCT	ENSP00000504282.1:n.750-100_750-99insTCT
ENST00000677160.1:n.2024-100_2024-99insTCT
ENST00000677416.1:n.775-100_775-99insTCT
ENST00000677475.1:n.2601_2602insTCT
ENST00000677486.1:c.*94-100_*94-99insTCT	ENSP00000503852.1:n.*94-100_*94-99insTCT
ENST00000677546.1:c.*94-100_*94-99insTCT	ENSP00000504043.1:n.*94-100_*94-99insTCT
ENST00000677709.1:n.775-100_775-99insTCT
ENST00000678011.1:n.775-100_775-99insTCT
ENST00000678211.1:n.2799-100_2799-99insTCT
ENST00000678432.1:c.*369-100_*369-99insTCT	ENSP00000504452.1:n.*369-100_*369-99insTCT
ENST00000678463.1:c.750-100_750-99insTCT	ENSP00000502984.1:n.750-100_750-99insTCT
ENST00000678481.1:n.551-100_551-99insTCT
ENST00000678568.1:c.*157-100_*157-99insTCT	ENSP00000504754.1:n.*157-100_*157-99insTCT
ENST00000678641.1:c.*94-100_*94-99insTCT	ENSP00000503159.1:n.*94-100_*94-99insTCT
ENST00000678928.1:n.2377-100_2377-99insTCT
ENST00000679081.1:n.2766-100_2766-99insTCT
ENST00000313863.10:c.750-100_750-99insTCT	ENSP00000316631.6:n.750-100_750-99insTCT
ENST00000393119.6:c.750-100_750-99insTCT	ENSP00000376827.2:n.750-100_750-99insTCT
ENST00000393120.6:c.*157-100_*157-99insTCT	ENSP00000376828.2:n.*157-100_*157-99insTCT
ENST00000537529.6:c.720-100_720-99insTCT	ENSP00000442096.2:n.720-100_720-99insTCT
ENST00000577824.5:c.227-100_227-99insTCT
ENST00000581761.5:c.*157-100_*157-99insTCT	ENSP00000462129.1:n.*157-100_*157-99insTCT
NM_001165927.1:c.720-100_720-99insTCT , LRG_687t2:c.720-100_720-99insTCT	NP_001159399.1:n.720-100_720-99insTCT
NM_017777.3:c.750-100_750-99insTCT , LRG_687t1:c.750-100_750-99insTCT	NP_060247.2:n.750-100_750-99insTCT
XM_005257483.3:c.750-100_750-99insTCT	XP_005257540.1:n.750-100_750-99insTCT
XM_005257485.3:c.321-100_321-99insTCT	XP_005257542.1:n.321-100_321-99insTCT
XM_005257486.3:c.141-100_141-99insTCT	XP_005257543.1:n.141-100_141-99insTCT
XM_006721965.2:c.141-100_141-99insTCT	XP_006722028.1:n.141-100_141-99insTCT
XM_011524957.1:c.759-100_759-99insTCT	XP_011523259.1:n.759-100_759-99insTCT
XM_011524958.1:c.759-100_759-99insTCT	XP_011523260.1:n.759-100_759-99insTCT
XM_011524959.1:c.759-100_759-99insTCT	XP_011523261.1:n.759-100_759-99insTCT
XM_011524960.1:c.759-100_759-99insTCT	XP_011523262.1:n.759-100_759-99insTCT
XR_934494.1:n.807-100_807-99insTCT
NM_001321268.1:c.141-100_141-99insTCT	NP_001308197.1:n.141-100_141-99insTCT
NM_001321269.1:c.750-100_750-99insTCT	NP_001308198.1:n.750-100_750-99insTCT
NM_001330397.1:c.750-100_750-99insTCT	NP_001317326.1:n.750-100_750-99insTCT
XM_005257485.4:c.321-100_321-99insTCT	XP_005257542.1:n.321-100_321-99insTCT
XM_006721965.3:c.141-100_141-99insTCT	XP_006722028.1:n.141-100_141-99insTCT
XM_011524957.2:c.759-100_759-99insTCT	XP_011523259.1:n.759-100_759-99insTCT
XM_011524958.2:c.759-100_759-99insTCT	XP_011523260.1:n.759-100_759-99insTCT
XM_011524959.2:c.759-100_759-99insTCT	XP_011523261.1:n.759-100_759-99insTCT
XM_011524960.2:c.759-100_759-99insTCT	XP_011523262.1:n.759-100_759-99insTCT
XM_017024804.2:c.750-100_750-99insTCT	XP_016880293.1:n.750-100_750-99insTCT
XM_017024805.1:c.321-100_321-99insTCT	XP_016880294.1:n.321-100_321-99insTCT
XR_002958042.1:n.804-100_804-99insTCT
NM_001321268.2:c.141-100_141-99insTCT	NP_001308197.1:n.141-100_141-99insTCT
NM_001321269.2:c.750-100_750-99insTCT	NP_001308198.1:n.750-100_750-99insTCT
NM_001330397.2:c.750-100_750-99insTCT	NP_001317326.1:n.750-100_750-99insTCT
NM_017777.4:c.750-100_750-99insTCT MANE Select	NP_060247.2:n.750-100_750-99insTCT