|
ENST00000318312.12:c.786del
(BBS1)
MANE Select
|
ENSP00000317469.7:p.Ala264ProfsTer12
|
|
|
ENST00000318312.11:c.786del
(BBS1)
|
ENSP00000317469.7:p.Ala264ProfsTer12
|
|
|
ENST00000393994.4:c.723+1584del
(BBS1)
|
ENSP00000377563.2:n.723+1584del
|
|
|
ENST00000419755.3:c.897del
|
ENSP00000398526.3:p.Ala301ProfsTer12
|
|
|
ENST00000455748.6:c.495del
(BBS1)
|
ENSP00000405764.2:p.Ala167ProfsTer12
|
|
|
ENST00000524458.5:c.*575del
(BBS1)
|
ENSP00000436195.1:n.*575del
|
|
|
ENST00000525809.5:c.513del
(BBS1)
|
ENSP00000431187.1:p.Ala173ProfsTer12
|
|
|
ENST00000526035.5:c.*489del
(BBS1)
|
ENSP00000434197.1:n.*489del
|
|
|
ENST00000526760.5:c.*493del
(BBS1)
|
ENSP00000432140.1:n.*493del
|
|
|
ENST00000526986.5:c.*157del
(ZDHHC24)
|
ENSP00000431321.1:n.*157del
|
|
|
ENST00000529766.5:n.793del
(BBS1)
|
|
|
|
ENST00000529955.5:n.757del
(BBS1)
|
|
|
|
ENST00000532908.5:c.*446del
(BBS1)
|
ENSP00000431866.1:n.*446del
|
|
|
ENST00000533430.5:n.564del
(BBS1)
|
|
|
|
ENST00000533557.5:c.*446del
(BBS1)
|
ENSP00000434619.1:n.*446del
|
|
|
ENST00000533644.5:c.*244del
(BBS1)
|
ENSP00000436073.1:n.*244del
|
|
|
ENST00000534073.5:c.*279del
(ZDHHC24)
|
ENSP00000436503.1:n.*279del
|
|
|
ENST00000630659.2:c.*493del
(BBS1)
|
ENSP00000486455.1:n.*493del
|
|
|
NM_024649.4:c.786del
(BBS1)
|
NP_078925.3:p.Ala264ProfsTer12
|
|
|
NM_001348571.1:c.*157del
(ZDHHC24)
|
NP_001335500.1:n.*157del
|
|
|
XR_001747823.2:n.998del
(ZDHHC24)
|
|
|
|
XR_949860.3:n.1069del
(ZDHHC24)
|
|
|
|
NM_024649.5:c.786del
(BBS1)
MANE Select
|
NP_078925.3:p.Ala264ProfsTer12
|
|
|
NM_001348571.2:c.*157del
(ZDHHC24)
|
NP_001335500.1:n.*157del
|
|
