|
ENST00000647720.2:c.1359_1381delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000497673.2:p.Leu453=
|
|
|
ENST00000647978.2:c.*1106+6682_*1106+6704delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000497658.1:n.*1106+6682_*1106+6704delinsGTTGGCGGTTGCTG...
|
|
|
ENST00000649781.2:c.1209+6682_1209+6704delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000497203.1:n.1209+6682_1209+6704delinsGTTGGCGGTTGCTGGA...
|
|
|
ENST00000685018.2:c.1359_1381delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000510194.2:p.Leu453=
|
|
|
ENST00000687278.2:c.1359_1381delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000509593.2:p.Leu453=
|
|
|
ENST00000699585.1:c.1359_1381delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000514456.1:p.Leu453=
|
|
|
ENST00000699596.1:c.1359_1381delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000514465.1:p.Leu453=
|
|
|
ENST00000699597.1:c.1359_1381delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000514466.1:p.Leu453=
|
|
|
ENST00000699598.1:c.1359_1381delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000514467.1:p.Leu453=
|
|
|
ENST00000699599.1:c.1359_1381delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000514468.1:p.Leu453=
|
|
|
ENST00000699600.1:c.1359_1381delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000514469.1:p.Leu453=
|
|
|
ENST00000699601.1:c.1359_1381delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000514470.1:p.Leu453=
|
|
|
ENST00000699602.1:c.1359_1381delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000514471.1:p.Leu453=
|
|
|
ENST00000699604.1:c.*1183_*1205delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000514472.1:n.*1183_*1205delinsGTTGGCGGTTGCTGGATCCACTG
|
|
|
ENST00000699605.1:c.966+6682_966+6704delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000514473.1:n.966+6682_966+6704delinsGTTGGCGGTTGCTGGATC...
|
|
|
ENST00000003084.11:c.1359_1381delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
MANE Select
|
ENSP00000003084.6:p.Leu453=
|
|
|
ENST00000647978.1:c.*1106+6682_*1106+6704delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000497658.1:n.*1106+6682_*1106+6704delinsGTTGGCGGTTGCTG...
|
|
|
ENST00000648260.1:c.1209+6682_1209+6704delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000497957.1:n.1209+6682_1209+6704delinsGTTGGCGGTTGCTGGA...
|
|
|
ENST00000649406.1:c.1209+6682_1209+6704delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000497965.1:n.1209+6682_1209+6704delinsGTTGGCGGTTGCTGGA...
|
|
|
ENST00000649781.1:c.1209+6682_1209+6704delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000497203.1:n.1209+6682_1209+6704delinsGTTGGCGGTTGCTGGA...
|
|
|
ENST00000003084.10:c.1359_1381delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000003084.6:p.Leu453=
|
|
|
ENST00000426809.5:c.1269_1291delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
ENSP00000389119.1:p.Leu423=
|
|
|
NM_000492.3:c.1359_1381delinsGTTGGCGGTTGCTGGATCCACTG , LRG_663t1:c.1359_1381delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
NP_000483.3:p.Leu453=
|
|
|
XM_011515751.1:c.1449_1471delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
XP_011514053.1:p.Leu483=
|
|
|
XM_011515752.1:c.1449_1471delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
XP_011514054.1:p.Leu483=
|
|
|
XM_011515753.1:c.1116_1138delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
XP_011514055.1:p.Leu372=
|
|
|
XM_011515754.1:c.1116_1138delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
|
XP_011514056.1:p.Leu372=
|
|
|
NR_149084.1:n.222-6273_222-6251delinsCAGTGGATCCAGCAACCGCCAAC
(CFTR-AS1)
|
|
|
|
NM_000492.4:c.1359_1381delinsGTTGGCGGTTGCTGGATCCACTG
(CFTR)
MANE Select
|
NP_000483.3:p.Leu453=
|
|
