Canonical Allele Identifier: CA645556620
Gene: PIK3R1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68295311_68295312del , CM000667.2:g.68295311_68295312del GRCh38
NC_000005.9:g.67591139_67591140del , CM000667.1:g.67591139_67591140del GRCh37
NC_000005.8:g.67626895_67626896del NCBI36
NG_012849.2:g.84556_84557del

Transcript Alleles

HGVS Amino-acid change
ENST00000320694.13:c.832_833del ENSP00000323512.8:p.Asp278ProfsTer23
ENST00000336483.10:c.922_923del ENSP00000338554.5:p.Asp308ProfsTer23
ENST00000517643.2:c.1732_1733del ENSP00000513333.1:p.Asp578ProfsTer23
ENST00000517698.6:c.*702_*703del ENSP00000430424.1:n.*702_*703del
ENST00000521657.6:c.1732_1733del ENSP00000429277.1:p.Asp578ProfsTer23
ENST00000522084.6:c.922_923del ENSP00000429766.2:p.Asp308ProfsTer23
ENST00000697457.1:c.1657_1658del ENSP00000513315.1:p.Asp553ProfsTer23
ENST00000697458.1:c.1732_1733del ENSP00000513316.1:p.Asp578ProfsTer23
ENST00000697460.1:c.1207_1208del ENSP00000513318.1:p.Asp403ProfsTer23
ENST00000697461.1:c.1732_1733del ENSP00000513319.1:p.Asp578ProfsTer23
ENST00000697462.1:c.922_923del ENSP00000513320.1:p.Asp308ProfsTer23
ENST00000697463.1:n.1373_1374del
ENST00000697464.1:c.*698_*699del ENSP00000513322.1:n.*698_*699del
ENST00000697465.1:c.769_770del ENSP00000513323.1:p.Asp257ProfsTer23
ENST00000697466.1:c.739_740del ENSP00000513324.1:p.Asp247ProfsTer23
ENST00000697467.1:c.643_644del ENSP00000513325.1:p.Asp215ProfsTer23
ENST00000697468.1:c.715_716del ENSP00000513326.1:p.Asp239ProfsTer23
ENST00000697469.1:c.424_425del ENSP00000513327.1:p.Asp142ProfsTer23
ENST00000697470.1:c.328_329del ENSP00000513328.1:p.Asp110ProfsTer23
ENST00000697557.1:c.715_716del ENSP00000513335.1:p.Asp239ProfsTer23
ENST00000521381.6:c.1732_1733del MANE Select ENSP00000428056.1:p.Asp578ProfsTer23
ENST00000320694.12:c.832_833del ENSP00000323512.8:p.Asp278ProfsTer23
ENST00000336483.9:c.922_923del ENSP00000338554.5:p.Asp308ProfsTer23
ENST00000517698.5:c.*702_*703del ENSP00000430424.1:n.*702_*703del
ENST00000518813.5:n.2275_2276del
ENST00000520550.1:n.1131_1132del
ENST00000521381.5:c.1732_1733del ENSP00000428056.1:p.Asp578ProfsTer23
ENST00000521657.5:c.1732_1733del ENSP00000429277.1:p.Asp578ProfsTer23
ENST00000523872.1:c.643_644del ENSP00000430098.1:p.Asp215ProfsTer23
NM_001242466.1:c.643_644del NP_001229395.1:p.Asp215ProfsTer23
NM_181504.3:c.922_923del NP_852556.2:p.Asp308ProfsTer23
NM_181523.2:c.1732_1733del NP_852664.1:p.Asp578ProfsTer23
NM_181524.1:c.832_833del NP_852665.1:p.Asp278ProfsTer23
XM_005248542.2:c.1732_1733del XP_005248599.1:p.Asp578ProfsTer23
XM_011543493.1:c.1405_1406del XP_011541795.1:p.Asp469ProfsTer23
XM_005248542.3:c.1732_1733del XP_005248599.1:p.Asp578ProfsTer23
XM_011543493.3:c.1405_1406del XP_011541795.1:p.Asp469ProfsTer23
XM_017009585.2:c.1732_1733del XP_016865074.1:p.Asp578ProfsTer23
XM_017009586.1:c.1459_1460del XP_016865075.1:p.Asp487ProfsTer23
NM_181523.3:c.1732_1733del MANE Select NP_852664.1:p.Asp578ProfsTer23
NM_001242466.2:c.643_644del NP_001229395.1:p.Asp215ProfsTer23
NM_181504.4:c.922_923del NP_852556.2:p.Asp308ProfsTer23
NM_181524.2:c.832_833del NP_852665.1:p.Asp278ProfsTer23