Canonical Allele Identifier: CA344744

Gene: MKS1

Linked Data

• ClinVar Variation Id: 56617
• ClinVar RCV Id: RCV000050030 ; RCV000230084 ; RCV000340753 ; RCV000984283 ; RCV000984282 ; RCV001063563 ; RCV001781381 ; RCV002496727
• dbSNP Id: rs386834044
• ExAC: 17:56283862 G / GTGCC
• gnomAD v2: 17-56283862-G-GTGCC
• gnomAD v3: 17-58206501-G-GTGCC
• gnomAD v4: 17-58206501-G-GTGCC
• MyVariant Identifiers: chr17:g.56283863_56283866dupTGCC (hg19) ; chr17:g.56283862_56283863insTGCC (hg19) ; chr17:g.58206502_58206505dupTGCC (hg38) ; chr17:g.58206501_58206502insTGCC (hg38)
• PubMed: PMID:17185389 ; PMID:17397051 ; PMID:21228398 ; PMID:22941275 ; PMID:23351400

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206504_58206507dup , CM000679.2:g.58206504_58206507dup	GRCh38
NC_000017.10:g.56283865_56283868dup , CM000679.1:g.56283865_56283868dup	GRCh37
NC_000017.9:g.53638864_53638867dup	NCBI36
NG_013020.1:g.18777_18780dup
NG_013032.1:g.18101_18104dup , LRG_687:g.18101_18104dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.1274-125_1274-122dup	ENSP00000316631.6:n.1274-125_1274-122dup
ENST00000393119.7:c.1450_1453dup MANE Select	ENSP00000376827.2:p.Thr485ArgfsTer?
ENST00000537529.7:c.1021_1024dup	ENSP00000442096.3:p.Thr342ArgfsTer?
ENST00000675753.2:c.*1069_*1072dup	ENSP00000502156.1:n.*1069_*1072dup
ENST00000676787.1:c.1321_1324dup	ENSP00000503999.1:p.Thr442ArgfsTer?
ENST00000677111.1:c.*924_*927dup	ENSP00000504282.1:n.*924_*927dup
ENST00000677160.1:n.2724_2727dup
ENST00000677416.1:n.2687_2690dup
ENST00000677486.1:c.*794_*797dup	ENSP00000503852.1:n.*794_*797dup
ENST00000677709.1:n.2150_2153dup
ENST00000678011.1:n.2350_2353dup
ENST00000678432.1:c.*1224_*1227dup	ENSP00000504452.1:n.*1224_*1227dup
ENST00000678463.1:c.1408-125_1408-122dup	ENSP00000502984.1:n.1408-125_1408-122dup
ENST00000678568.1:c.*815-125_*815-122dup	ENSP00000504754.1:n.*815-125_*815-122dup
ENST00000678641.1:c.*794_*797dup	ENSP00000503159.1:n.*794_*797dup
ENST00000678763.1:n.1765_1768dup
ENST00000313863.10:c.1274-125_1274-122dup	ENSP00000316631.6:n.1274-125_1274-122dup
ENST00000393119.6:c.1450_1453dup	ENSP00000376827.2:p.Thr485ArgfsTer?
ENST00000393120.6:c.*857_*860dup	ENSP00000376828.2:n.*857_*860dup
ENST00000537529.6:c.1420_1423dup	ENSP00000442096.2:p.Thr475ArgfsTer?
ENST00000583577.1:n.276_279dup
NM_001165927.1:c.1420_1423dup , LRG_687t2:c.1420_1423dup	NP_001159399.1:p.Thr475ArgfsTer?
NM_017777.3:c.1450_1453dup , LRG_687t1:c.1450_1453dup	NP_060247.2:p.Thr485ArgfsTer?
XM_005257483.3:c.1408-125_1408-122dup	XP_005257540.1:n.1408-125_1408-122dup
XM_005257485.3:c.979-125_979-122dup	XP_005257542.1:n.979-125_979-122dup
XM_005257486.3:c.841_844dup	XP_005257543.1:p.Thr282ArgfsTer?
XM_006721965.2:c.799-125_799-122dup	XP_006722028.1:n.799-125_799-122dup
XM_011524957.1:c.1417-125_1417-122dup	XP_011523259.1:n.1417-125_1417-122dup
XM_011524958.1:c.1459_1462dup	XP_011523260.1:p.Thr488ArgfsTer?
XM_011524959.1:c.1283-125_1283-122dup	XP_011523261.1:n.1283-125_1283-122dup
NM_001321268.1:c.841_844dup	NP_001308197.1:p.Thr282ArgfsTer?
NM_001321269.1:c.1408-125_1408-122dup	NP_001308198.1:n.1408-125_1408-122dup
NM_001330397.1:c.1274-125_1274-122dup	NP_001317326.1:n.1274-125_1274-122dup
XM_005257485.4:c.979-125_979-122dup	XP_005257542.1:n.979-125_979-122dup
XM_006721965.3:c.799-125_799-122dup	XP_006722028.1:n.799-125_799-122dup
XM_011524957.2:c.1417-125_1417-122dup	XP_011523259.1:n.1417-125_1417-122dup
XM_011524958.2:c.1459_1462dup	XP_011523260.1:p.Thr488ArgfsTer?
XM_011524959.2:c.1283-125_1283-122dup	XP_011523261.1:n.1283-125_1283-122dup
XM_017024805.1:c.1021_1024dup	XP_016880294.1:p.Thr342ArgfsTer?
XR_002958042.1:n.1419-125_1419-122dup
NM_001321268.2:c.841_844dup	NP_001308197.1:p.Thr282ArgfsTer?
NM_001321269.2:c.1408-125_1408-122dup	NP_001308198.1:n.1408-125_1408-122dup
NM_001330397.2:c.1274-125_1274-122dup	NP_001317326.1:n.1274-125_1274-122dup
NM_017777.4:c.1450_1453dup MANE Select	NP_060247.2:p.Thr485ArgfsTer?