|
ENST00000704680.1:c.1684del
(STXBP1)
|
ENSP00000515991.1:p.Gln562ArgfsTer7
|
|
|
ENST00000704681.1:c.1797del
(STXBP1)
|
ENSP00000515992.1:n.1797del
|
|
|
ENST00000373299.5:c.1726del
(STXBP1)
MANE Select
|
ENSP00000362396.2:p.Gln576ArgfsTer7
|
|
|
ENST00000373302.8:c.*40del
(STXBP1)
MANE Plus Clinical
|
ENSP00000362399.3:n.*40del
|
|
|
ENST00000626539.3:c.1684del
(STXBP1)
|
ENSP00000487211.2:p.Gln562ArgfsTer7
|
|
|
ENST00000635950.2:c.1703-4196del
(STXBP1)
|
ENSP00000490903.1:n.1703-4196del
|
|
|
ENST00000636509.2:c.*681del
(STXBP1)
|
ENSP00000490810.1:n.*681del
|
|
|
ENST00000636962.2:c.1703-4196del
(STXBP1)
|
ENSP00000489762.1:n.1703-4196del
|
|
|
ENST00000637060.2:c.*1368del
(STXBP1)
|
ENSP00000490674.2:n.*1368del
|
|
|
ENST00000637173.2:c.1684del
(STXBP1)
|
ENSP00000490519.1:p.Gln562ArgfsTer7
|
|
|
ENST00000637464.2:c.*2590del
(STXBP1)
|
ENSP00000489655.2:n.*2590del
|
|
|
ENST00000637521.2:c.*40del
(STXBP1)
|
ENSP00000489791.1:n.*40del
|
|
|
ENST00000637953.1:c.*72del
(STXBP1)
|
ENSP00000490613.1:n.*72del
|
|
|
ENST00000641641.1:c.60del
(PTRH1)
|
ENSP00000492921.1:p.Trp21GlyfsTer?
|
|
|
ENST00000650920.1:c.*40del
(STXBP1)
|
ENSP00000498834.1:n.*40del
|
|
|
ENST00000373299.4:c.1726del
(STXBP1)
|
ENSP00000362396.1:p.Gln576ArgfsTer7
|
|
|
ENST00000373302.7:c.*40del
(STXBP1)
|
ENSP00000362399.3:n.*40del
|
|
|
ENST00000626416.2:n.1562del
(STXBP1)
|
|
|
|
ENST00000628638.1:n.318del
(STXBP1)
|
|
|
|
ENST00000628768.1:n.665del
(STXBP1)
|
|
|
|
NM_001032221.3:c.1726del
(STXBP1)
|
NP_001027392.1:p.Gln576ArgfsTer7
|
|
|
NM_003165.3:c.*40del
(STXBP1)
|
NP_003156.1:n.*40del
|
|
|
NM_001032221.6:c.1726del
(STXBP1)
MANE Select
|
NP_001027392.1:p.Gln576ArgfsTer7
|
|
|
NM_001374306.2:c.1717del
(STXBP1)
|
NP_001361235.1:p.Gln573ArgfsTer7
|
|
|
NM_001374307.2:c.*40del
(STXBP1)
|
NP_001361236.1:n.*40del
|
|
|
NM_001374308.2:c.*40del
(STXBP1)
|
NP_001361237.1:n.*40del
|
|
|
NM_001374309.2:c.1684del
(STXBP1)
|
NP_001361238.1:p.Gln562ArgfsTer7
|
|
|
NM_001374310.2:c.1684del
(STXBP1)
|
NP_001361239.1:p.Gln562ArgfsTer7
|
|
|
NM_001374311.2:c.1684del
(STXBP1)
|
NP_001361240.1:p.Gln562ArgfsTer7
|
|
|
NM_001374312.2:c.1684del
(STXBP1)
|
NP_001361241.1:p.Gln562ArgfsTer7
|
|
|
NM_001374313.2:c.*72del
(STXBP1)
|
NP_001361242.1:n.*72del
|
|
|
NM_001374314.1:c.1703-4196del
(STXBP1)
|
NP_001361243.1:n.1703-4196del
|
|
|
NM_001374315.2:c.*40del
(STXBP1)
|
NP_001361244.1:n.*40del
|
|
|
NM_003165.6:c.*40del
(STXBP1)
MANE Plus Clinical
|
NP_003156.1:n.*40del
|
|
