Canonical Allele Identifier: CA444672842
Gene: PIK3R1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.67591146del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68295318del , CM000667.2:g.68295318del GRCh38
NC_000005.9:g.67591146del , CM000667.1:g.67591146del GRCh37
NC_000005.8:g.67626902del NCBI36
NG_012849.2:g.84563del

Transcript Alleles

HGVS Amino-acid Change
ENST00000320694.13:c.839del ENSP00000323512.8:p.Tyr280SerfsTer2
ENST00000336483.10:c.929del ENSP00000338554.5:p.Tyr310SerfsTer2
ENST00000517643.2:c.1739del ENSP00000513333.1:p.Tyr580SerfsTer2
ENST00000517698.6:c.*709del ENSP00000430424.1:n.*709del
ENST00000521657.6:c.1739del ENSP00000429277.1:p.Tyr580SerfsTer2
ENST00000522084.6:c.929del ENSP00000429766.2:p.Tyr310SerfsTer2
ENST00000697457.1:c.1664del ENSP00000513315.1:p.Tyr555SerfsTer2
ENST00000697458.1:c.1739del ENSP00000513316.1:p.Tyr580SerfsTer2
ENST00000697460.1:c.1214del ENSP00000513318.1:p.Tyr405SerfsTer2
ENST00000697461.1:c.1739del ENSP00000513319.1:p.Tyr580SerfsTer2
ENST00000697462.1:c.929del ENSP00000513320.1:p.Tyr310SerfsTer2
ENST00000697463.1:n.1380del
ENST00000697464.1:c.*705del ENSP00000513322.1:n.*705del
ENST00000697465.1:c.776del ENSP00000513323.1:p.Tyr259SerfsTer2
ENST00000697466.1:c.746del ENSP00000513324.1:p.Tyr249SerfsTer2
ENST00000697467.1:c.650del ENSP00000513325.1:p.Tyr217SerfsTer2
ENST00000697468.1:c.722del ENSP00000513326.1:p.Tyr241SerfsTer2
ENST00000697469.1:c.431del ENSP00000513327.1:p.Tyr144SerfsTer2
ENST00000697470.1:c.335del ENSP00000513328.1:p.Tyr112SerfsTer2
ENST00000697557.1:c.722del ENSP00000513335.1:p.Tyr241SerfsTer2
ENST00000521381.6:c.1739del MANE Select ENSP00000428056.1:p.Tyr580SerfsTer2
ENST00000320694.12:c.839del ENSP00000323512.8:p.Tyr280SerfsTer2
ENST00000336483.9:c.929del ENSP00000338554.5:p.Tyr310SerfsTer2
ENST00000517698.5:c.*709del ENSP00000430424.1:n.*709del
ENST00000518813.5:n.2282del
ENST00000520550.1:n.1138del
ENST00000521381.5:c.1739del ENSP00000428056.1:p.Tyr580SerfsTer2
ENST00000521657.5:c.1739del ENSP00000429277.1:p.Tyr580SerfsTer2
ENST00000523872.1:c.650del ENSP00000430098.1:p.Tyr217SerfsTer2
NM_001242466.1:c.650del NP_001229395.1:p.Tyr217SerfsTer2
NM_181504.3:c.929del NP_852556.2:p.Tyr310SerfsTer2
NM_181523.2:c.1739del NP_852664.1:p.Tyr580SerfsTer2
NM_181524.1:c.839del NP_852665.1:p.Tyr280SerfsTer2
XM_005248542.2:c.1739del XP_005248599.1:p.Tyr580SerfsTer2
XM_011543493.1:c.1412del XP_011541795.1:p.Tyr471SerfsTer2
XM_005248542.3:c.1739del XP_005248599.1:p.Tyr580SerfsTer2
XM_011543493.3:c.1412del XP_011541795.1:p.Tyr471SerfsTer2
XM_017009585.2:c.1739del XP_016865074.1:p.Tyr580SerfsTer2
XM_017009586.1:c.1466del XP_016865075.1:p.Tyr489SerfsTer2
NM_181523.3:c.1739del MANE Select NP_852664.1:p.Tyr580SerfsTer2
NM_001242466.2:c.650del NP_001229395.1:p.Tyr217SerfsTer2
NM_181504.4:c.929del NP_852556.2:p.Tyr310SerfsTer2
NM_181524.2:c.839del NP_852665.1:p.Tyr280SerfsTer2