Canonical Allele Identifier: CA645556624
Gene: PIK3R1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68295313_68295323del , CM000667.2:g.68295313_68295323del GRCh38
NC_000005.9:g.67591141_67591151del , CM000667.1:g.67591141_67591151del GRCh37
NC_000005.8:g.67626897_67626907del NCBI36
NG_012849.2:g.84558_84568del

Transcript Alleles

HGVS Amino-acid change
ENST00000320694.13:c.834_844del ENSP00000323512.8:p.Gln279ValfsTer19
ENST00000336483.10:c.924_934del ENSP00000338554.5:p.Gln309ValfsTer19
ENST00000517643.2:c.1734_1744del ENSP00000513333.1:p.Gln579ValfsTer19
ENST00000517698.6:c.*704_*714del ENSP00000430424.1:n.*704_*714del
ENST00000521657.6:c.1734_1744del ENSP00000429277.1:p.Gln579ValfsTer19
ENST00000522084.6:c.924_934del ENSP00000429766.2:p.Gln309ValfsTer19
ENST00000697457.1:c.1659_1669del ENSP00000513315.1:p.Gln554ValfsTer19
ENST00000697458.1:c.1734_1744del ENSP00000513316.1:p.Gln579ValfsTer19
ENST00000697460.1:c.1209_1219del ENSP00000513318.1:p.Gln404ValfsTer19
ENST00000697461.1:c.1734_1744del ENSP00000513319.1:p.Gln579ValfsTer19
ENST00000697462.1:c.924_934del ENSP00000513320.1:p.Gln309ValfsTer19
ENST00000697463.1:n.1375_1385del
ENST00000697464.1:c.*700_*710del ENSP00000513322.1:n.*700_*710del
ENST00000697465.1:c.771_781del ENSP00000513323.1:p.Gln258ValfsTer19
ENST00000697466.1:c.741_751del ENSP00000513324.1:p.Gln248ValfsTer19
ENST00000697467.1:c.645_655del ENSP00000513325.1:p.Gln216ValfsTer19
ENST00000697468.1:c.717_727del ENSP00000513326.1:p.Gln240ValfsTer19
ENST00000697469.1:c.426_436del ENSP00000513327.1:p.Gln143ValfsTer19
ENST00000697470.1:c.330_340del ENSP00000513328.1:p.Gln111ValfsTer19
ENST00000697557.1:c.717_727del ENSP00000513335.1:p.Gln240ValfsTer19
ENST00000521381.6:c.1734_1744del MANE Select ENSP00000428056.1:p.Gln579ValfsTer19
ENST00000320694.12:c.834_844del ENSP00000323512.8:p.Gln279ValfsTer19
ENST00000336483.9:c.924_934del ENSP00000338554.5:p.Gln309ValfsTer19
ENST00000517698.5:c.*704_*714del ENSP00000430424.1:n.*704_*714del
ENST00000518813.5:n.2277_2287del
ENST00000520550.1:n.1133_1143del
ENST00000521381.5:c.1734_1744del ENSP00000428056.1:p.Gln579ValfsTer19
ENST00000521657.5:c.1734_1744del ENSP00000429277.1:p.Gln579ValfsTer19
ENST00000523872.1:c.645_655del ENSP00000430098.1:p.Gln216ValfsTer19
NM_001242466.1:c.645_655del NP_001229395.1:p.Gln216ValfsTer19
NM_181504.3:c.924_934del NP_852556.2:p.Gln309ValfsTer19
NM_181523.2:c.1734_1744del NP_852664.1:p.Gln579ValfsTer19
NM_181524.1:c.834_844del NP_852665.1:p.Gln279ValfsTer19
XM_005248542.2:c.1734_1744del XP_005248599.1:p.Gln579ValfsTer19
XM_011543493.1:c.1407_1417del XP_011541795.1:p.Gln470ValfsTer19
XM_005248542.3:c.1734_1744del XP_005248599.1:p.Gln579ValfsTer19
XM_011543493.3:c.1407_1417del XP_011541795.1:p.Gln470ValfsTer19
XM_017009585.2:c.1734_1744del XP_016865074.1:p.Gln579ValfsTer19
XM_017009586.1:c.1461_1471del XP_016865075.1:p.Gln488ValfsTer19
NM_181523.3:c.1734_1744del MANE Select NP_852664.1:p.Gln579ValfsTer19
NM_001242466.2:c.645_655del NP_001229395.1:p.Gln216ValfsTer19
NM_181504.4:c.924_934del NP_852556.2:p.Gln309ValfsTer19
NM_181524.2:c.834_844del NP_852665.1:p.Gln279ValfsTer19