Canonical Allele Identifier: CA2267601959

Gene: MKS1

Linked Data

• dbSNP Id: rs1968481411

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206069_58206092del , CM000679.2:g.58206069_58206092del	GRCh38
NC_000017.10:g.56283430_56283453del , CM000679.1:g.56283430_56283453del	GRCh37
NC_000017.9:g.53638429_53638452del	NCBI36
NG_013020.1:g.18342_18365del
NG_013032.1:g.18520_18543del , LRG_687:g.18520_18543del

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*85_*108del	ENSP00000316631.6:n.*85_*108del
ENST00000393119.7:c.1673_*16del MANE Select	ENSP00000376827.2:n.[c.1673_*16del;Val558...
ENST00000537529.7:c.1244_*16del	ENSP00000442096.3:n.[c.1244_*16del;Val415...
ENST00000675753.2:c.*1292_*1315del	ENSP00000502156.1:n.*1292_*1315del
ENST00000676787.1:c.1544_*16del	ENSP00000503999.1:n.[c.1544_*16del;Val515...
ENST00000677111.1:c.*1147_*1170del	ENSP00000504282.1:n.*1147_*1170del
ENST00000677160.1:n.2947_2970del
ENST00000677416.1:n.2994_3017del
ENST00000677486.1:c.*1017_*1040del	ENSP00000503852.1:n.*1017_*1040del
ENST00000677709.1:n.2373_2396del
ENST00000678011.1:n.2573_2596del
ENST00000678432.1:c.*1447_*1470del	ENSP00000504452.1:n.*1447_*1470del
ENST00000678463.1:c.1590_1613del	ENSP00000502984.1:p.Leu531_Gly538del
ENST00000678568.1:c.*997_*1020del	ENSP00000504754.1:n.*997_*1020del
ENST00000678641.1:c.*1017_*1040del	ENSP00000503159.1:n.*1017_*1040del
ENST00000678763.1:n.1988_2011del
ENST00000313863.10:c.*85_*108del	ENSP00000316631.6:n.*85_*108del
ENST00000393119.6:c.1673_*16del	ENSP00000376827.2:n.[c.1673_*16del;Val558...
ENST00000393120.6:c.*1080_*1103del	ENSP00000376828.2:n.*1080_*1103del
ENST00000537529.6:c.1643_*16del	ENSP00000442096.2:n.[c.1643_*16del;Val548...
ENST00000583577.1:n.499_522del
NM_001165927.1:c.1643_*16del , LRG_687t2:c.1643_*16del	NP_001159399.1:n.[c.1643_*16del;Val548Ala...
NM_017777.3:c.1673_*16del , LRG_687t1:c.1673_*16del	NP_060247.2:n.[c.1673_*16del;Val558AlafsT...
XM_005257483.3:c.1590_1613del	XP_005257540.1:p.Leu531_Gly538del
XM_005257485.3:c.1161_1184del	XP_005257542.1:p.Leu388_Gly395del
XM_005257486.3:c.1064_*16del	XP_005257543.1:n.[c.1064_*16del;Val355Ala...
XM_006721965.2:c.981_1004del	XP_006722028.1:p.Leu328_Gly335del
XM_011524957.1:c.1599_1622del	XP_011523259.1:p.Leu534_Gly541del
XM_011524958.1:c.1682_*16del	XP_011523260.1:n.[c.1682_*16del;Val561Ala...
XM_011524959.1:c.*85_*108del	XP_011523261.1:n.*85_*108del
NM_001321268.1:c.1064_*16del	NP_001308197.1:n.[c.1064_*16del;Val355Ala...
NM_001321269.1:c.1590_1613del	NP_001308198.1:p.Leu531_Gly538del
NM_001330397.1:c.*85_*108del	NP_001317326.1:n.*85_*108del
XM_005257485.4:c.1161_1184del	XP_005257542.1:p.Leu388_Gly395del
XM_006721965.3:c.981_1004del	XP_006722028.1:p.Leu328_Gly335del
XM_011524957.2:c.1599_1622del	XP_011523259.1:p.Leu534_Gly541del
XM_011524958.2:c.1682_*16del	XP_011523260.1:n.[c.1682_*16del;Val561Ala...
XM_011524959.2:c.*85_*108del	XP_011523261.1:n.*85_*108del
XM_017024805.1:c.1244_*16del	XP_016880294.1:n.[c.1244_*16del;Val415Ala...
XR_002958042.1:n.1601_1624del
NM_001321268.2:c.1064_*16del	NP_001308197.1:n.[c.1064_*16del;Val355Ala...
NM_001321269.2:c.1590_1613del	NP_001308198.1:p.Leu531_Gly538del
NM_001330397.2:c.*85_*108del	NP_001317326.1:n.*85_*108del
NM_017777.4:c.1673_*16del MANE Select	NP_060247.2:n.[c.1673_*16del;Val558AlafsT...