Canonical Allele Identifier: CA400325603
Community Standard Title: NM_017777.4(MKS1):c.1166-2A>G
Gene: MKS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58208003T>C , CM000679.2:g.58208003T>C GRCh38
NC_000017.10:g.56285364T>C , CM000679.1:g.56285364T>C GRCh37
NC_000017.9:g.53640363T>C NCBI36
NG_013032.1:g.16603A>G , LRG_687:g.16603A>G

Transcript Alleles

HGVS Amino-acid Change
NM_017777.4:c.1166-2A>G MANE Select NP_060247.2:n.1166-2A>G
ENST00000393119.7:c.1166-2A>G MANE Select ENSP00000376827.2:n.1166-2A>G
NM_001165927.1:c.1136-2A>G , LRG_687t2:c.1136-2A>G NP_001159399.1:n.1136-2A>G
NM_001321268.1:c.557-2A>G NP_001308197.1:n.557-2A>G
NM_001321268.2:c.557-2A>G NP_001308197.1:n.557-2A>G
NM_001321269.1:c.1166-2A>G NP_001308198.1:n.1166-2A>G
NM_001321269.2:c.1166-2A>G NP_001308198.1:n.1166-2A>G
NM_001330397.1:c.1166-2A>G NP_001317326.1:n.1166-2A>G
NM_001330397.2:c.1166-2A>G NP_001317326.1:n.1166-2A>G
NM_017777.3:c.1166-2A>G , LRG_687t1:c.1166-2A>G NP_060247.2:n.1166-2A>G
ENST00000313863.10:c.1166-2A>G ENSP00000316631.6:n.1166-2A>G
ENST00000313863.11:c.1166-2A>G ENSP00000316631.6:n.1166-2A>G
ENST00000393119.6:c.1166-2A>G ENSP00000376827.2:n.1166-2A>G
ENST00000393120.6:c.*573-2A>G ENSP00000376828.2:n.*573-2A>G
ENST00000537529.6:c.1136-2A>G ENSP00000442096.2:n.1136-2A>G
ENST00000537529.7:c.737-2A>G ENSP00000442096.3:n.737-2A>G
ENST00000577315.5:c.219-2A>G
ENST00000577824.5:c.719-2A>G
ENST00000580127.6:c.1166-2A>G ENSP00000462423.2:n.1166-2A>G
ENST00000585134.1:c.389-2A>G ENSP00000463826.1:n.389-2A>G
ENST00000585134.2:c.1166-2A>G ENSP00000463826.2:n.1166-2A>G
ENST00000675753.2:c.*785-2A>G ENSP00000502156.1:n.*785-2A>G
ENST00000676787.1:c.1037-2A>G ENSP00000503999.1:n.1037-2A>G
ENST00000677111.1:c.*103-2A>G ENSP00000504282.1:n.*103-2A>G
ENST00000677160.1:n.2440-2A>G
ENST00000677416.1:n.1191-2A>G
ENST00000677486.1:c.*510-2A>G ENSP00000503852.1:n.*510-2A>G
ENST00000677709.1:n.1191-2A>G
ENST00000678011.1:n.1529-2A>G
ENST00000678432.1:c.*785-2A>G ENSP00000504452.1:n.*785-2A>G
ENST00000678463.1:c.1166-2A>G ENSP00000502984.1:n.1166-2A>G
ENST00000678568.1:c.*573-2A>G ENSP00000504754.1:n.*573-2A>G
ENST00000678641.1:c.*510-2A>G ENSP00000503159.1:n.*510-2A>G
ENST00000678763.1:n.944-2A>G
XM_005257483.3:c.1166-2A>G XP_005257540.1:n.1166-2A>G
XM_005257485.3:c.737-2A>G XP_005257542.1:n.737-2A>G
XM_005257485.4:c.737-2A>G XP_005257542.1:n.737-2A>G
XM_005257486.3:c.557-2A>G XP_005257543.1:n.557-2A>G
XM_006721965.2:c.557-2A>G XP_006722028.1:n.557-2A>G
XM_006721965.3:c.557-2A>G XP_006722028.1:n.557-2A>G
XM_011524957.1:c.1175-2A>G XP_011523259.1:n.1175-2A>G
XM_011524957.2:c.1175-2A>G XP_011523259.1:n.1175-2A>G
XM_011524958.1:c.1175-2A>G XP_011523260.1:n.1175-2A>G
XM_011524958.2:c.1175-2A>G XP_011523260.1:n.1175-2A>G
XM_011524959.1:c.1175-2A>G XP_011523261.1:n.1175-2A>G
XM_011524959.2:c.1175-2A>G XP_011523261.1:n.1175-2A>G
XM_011524960.1:c.1175-2A>G XP_011523262.1:n.1175-2A>G
XM_011524960.2:c.1175-2A>G XP_011523262.1:n.1175-2A>G
XM_017024804.2:c.1166-2A>G XP_016880293.1:n.1166-2A>G
XM_017024805.1:c.737-2A>G XP_016880294.1:n.737-2A>G
XR_002958042.1:n.1177-2A>G
XR_934494.1:n.1180-2A>G