|
ENST00000377315.6:c.1621_1650del
(CACNB2)
|
ENSP00000366532.4:p.Asn541_Ser550del
|
|
|
ENST00000377319.9:c.1486_1515del
(CACNB2)
|
ENSP00000366536.3:p.Asn496_Ser505del
|
|
|
ENST00000645287.2:c.1609_1638del
(CACNB2)
|
ENSP00000496203.1:p.Asn537_Ser546del
|
|
|
ENST00000282343.13:c.1681_1710del
(CACNB2)
|
ENSP00000282343.8:p.Asn561_Ser570del
|
|
|
ENST00000324631.13:c.1765_1794del
(CACNB2)
MANE Select
|
ENSP00000320025.8:p.Asn589_Ser598del
|
|
|
ENST00000377315.5:c.1621_1650del
(CACNB2)
|
ENSP00000366532.4:p.Asn541_Ser550del
|
|
|
ENST00000377319.8:c.1486_1515del
(CACNB2)
|
ENSP00000366536.3:p.Asn496_Ser505del
|
|
|
ENST00000377329.10:c.1603_1632del
(CACNB2)
MANE Plus Clinical
|
ENSP00000366546.4:p.Asn535_Ser544del
|
|
|
ENST00000377331.8:c.1390_1419del
(CACNB2)
|
ENSP00000366548.4:p.Asn464_Ser473del
|
|
|
ENST00000643096.2:c.1567_1596del
(CACNB2)
|
ENSP00000494209.2:p.Asn523_Ser532del
|
|
|
ENST00000645287.1:c.1609_1638del
(CACNB2)
|
ENSP00000496203.1:p.Asn537_Ser546del
|
|
|
ENST00000647168.2:c.*906_*935del
(CACNB2)
|
ENSP00000495854.2:n.*906_*935del
|
|
|
ENST00000650685.1:c.1507_1536del
(CACNB2)
|
ENSP00000498460.1:p.Asn503_Ser512del
|
|
|
ENST00000651330.1:c.*1039_*1068del
(CACNB2)
|
ENSP00000498457.1:n.*1039_*1068del
|
|
|
ENST00000651468.1:c.1322_1351del
(CACNB2)
|
ENSP00000498352.1:n.1322_1351del
|
|
|
ENST00000651928.1:c.*1004_*1033del
(CACNB2)
|
ENSP00000499177.1:n.*1004_*1033del
|
|
|
ENST00000652391.1:c.1585_1614del
(CACNB2)
|
ENSP00000498938.1:p.Asn529_Ser538del
|
|
|
ENST00000652478.1:c.*865_*894del
(CACNB2)
|
ENSP00000498812.1:n.*865_*894del
|
|
|
ENST00000282343.12:c.1681_1710del
(CACNB2)
|
ENSP00000282343.8:p.Asn561_Ser570del
|
|
|
ENST00000324631.11:c.1765_1794del
(CACNB2)
|
ENSP00000320025.7:p.Asn589_Ser598del
|
|
|
ENST00000352115.10:c.1693_1722del
(CACNB2)
|
ENSP00000344474.6:p.Asn565_Ser574del
|
|
|
ENST00000377315.4:c.1621_1650del
(CACNB2)
|
ENSP00000366532.4:p.Asn541_Ser550del
|
|
|
ENST00000377319.7:c.1486_1515del
(CACNB2)
|
ENSP00000366536.3:p.Asn496_Ser505del
|
|
|
ENST00000377328.5:c.1015_1044del
(CACNB2)
|
ENSP00000366545.1:p.Asn339_Ser348del
|
|
|
ENST00000377329.8:c.1603_1632del
(CACNB2)
|
ENSP00000366546.4:p.Asn535_Ser544del
|
|
|
ENST00000377331.6:c.1609_1638del
(CACNB2)
|
ENSP00000366548.2:p.Asn537_Ser546del
|
|
|
ENST00000396576.6:c.1600_1629del
(CACNB2)
|
ENSP00000379821.2:p.Asn534_Ser543del
|
|
|
ENST00000612134.4:c.1469_1498del
(CACNB2)
|
ENSP00000480563.1:n.1469_1498del
|
|
|
ENST00000612743.1:c.277_306del
(CACNB2)
|
ENSP00000478676.1:p.Asn93_Ser102del
|
|
|
ENST00000615785.4:c.850_879del
(CACNB2)
|
ENSP00000480260.1:p.Asn284_Ser293del
|
|
|
ENST00000617363.4:c.1528_1557del
(CACNB2)
|
ENSP00000479756.1:p.Asn510_Ser519del
|
|
|
NM_000724.3:c.1600_1629del
(CACNB2)
|
NP_000715.2:p.Asn534_Ser543del
|
|
|
NM_001167945.1:c.1567_1596del
(CACNB2)
|
NP_001161417.1:p.Asn523_Ser532del
|
|
|
NM_201570.2:c.1621_1650del
(CACNB2)
|
NP_963864.1:p.Asn541_Ser550del
|
|
|
NM_201571.3:c.1681_1710del
(CACNB2)
|
NP_963865.2:p.Asn561_Ser570del
|
|
|
NM_201572.3:c.1609_1638del
(CACNB2)
|
NP_963866.2:p.Asn537_Ser546del
|
|
|
NM_201590.2:c.1603_1632del
(CACNB2)
|
NP_963884.2:p.Asn535_Ser544del
|
|
|
NM_201593.2:c.1651_1680del
(CACNB2)
|
NP_963887.2:p.Asn551_Ser560del
|
|
|
NM_201596.2:c.1765_1794del
(CACNB2)
|
NP_963890.2:p.Asn589_Ser598del
|
|
|
NM_201597.2:c.1693_1722del
(CACNB2)
|
NP_963891.1:p.Asn565_Ser574del
|
|
|
XM_005252588.2:c.1507_1536del
(CACNB2)
|
XP_005252645.1:p.Asn503_Ser512del
|
|
|
XM_005252591.2:c.925_954del
(CACNB2)
|
XP_005252648.1:p.Asn309_Ser318del
|
|
|
XM_006717502.2:c.1585_1614del
(CACNB2)
|
XP_006717565.1:p.Asn529_Ser538del
|
|
|
XM_011519659.1:c.1531_1560del
(CACNB2)
|
XP_011517961.1:p.Asn511_Ser520del
|
|
|
XM_011519660.1:c.1486_1515del
(CACNB2)
|
XP_011517962.1:p.Asn496_Ser505del
|
|
|
NM_001330060.1:c.1486_1515del
(CACNB2)
|
NP_001316989.1:p.Asn496_Ser505del
|
|
|
XM_005252588.4:c.1507_1536del
(CACNB2)
|
XP_005252645.1:p.Asn503_Ser512del
|
|
|
XM_005252591.3:c.925_954del
(CACNB2)
|
XP_005252648.1:p.Asn309_Ser318del
|
|
|
XM_006717502.3:c.1585_1614del
(CACNB2)
|
XP_006717565.1:p.Asn529_Ser538del
|
|
|
XM_011519659.2:c.1531_1560del
(CACNB2)
|
XP_011517961.1:p.Asn511_Ser520del
|
|
|
XM_017016625.1:c.925_954del
(CACNB2)
|
XP_016872114.1:p.Asn309_Ser318del
|
|
|
XR_001747060.1:n.2423+2534_2423+2563del
(NSUN6)
|
|
|
|
XR_001747198.1:n.1890_1919del
(CACNB2)
|
|
|
|
NM_000724.4:c.1600_1629del
(CACNB2)
|
NP_000715.2:p.Asn534_Ser543del
|
|
|
NM_001167945.2:c.1567_1596del
(CACNB2)
|
NP_001161417.1:p.Asn523_Ser532del
|
|
|
NM_001330060.2:c.1486_1515del
(CACNB2)
|
NP_001316989.1:p.Asn496_Ser505del
|
|
|
NM_201570.3:c.1621_1650del
(CACNB2)
|
NP_963864.1:p.Asn541_Ser550del
|
|
|
NM_201571.4:c.1681_1710del
(CACNB2)
|
NP_963865.2:p.Asn561_Ser570del
|
|
|
NM_201572.4:c.1609_1638del
(CACNB2)
|
NP_963866.2:p.Asn537_Ser546del
|
|
|
NM_201590.3:c.1603_1632del
(CACNB2)
MANE Plus Clinical
|
NP_963884.2:p.Asn535_Ser544del
|
|
|
NM_201593.3:c.1651_1680del
(CACNB2)
|
NP_963887.2:p.Asn551_Ser560del
|
|
|
NM_201596.3:c.1765_1794del
(CACNB2)
MANE Select
|
NP_963890.2:p.Asn589_Ser598del
|
|
|
NM_201597.3:c.1693_1722del
(CACNB2)
|
NP_963891.1:p.Asn565_Ser574del
|
|
