Canonical Allele Identifier: CA2740091739
Community Standard Title: NM_181523.3(PIK3R1):c.1314_1317del (p.Glu439IlefsTer6)
Gene: PIK3R1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68293723_68293726del , CM000667.2:g.68293723_68293726del GRCh38
NC_000005.9:g.67589551_67589554del , CM000667.1:g.67589551_67589554del GRCh37
NC_000005.8:g.67625307_67625310del NCBI36
NG_012849.2:g.82968_82971del

Transcript Alleles

HGVS Amino-acid Change
NM_181523.3:c.1314_1317del MANE Select NP_852664.1:p.Glu439IlefsTer6
ENST00000521381.6:c.1314_1317del MANE Select ENSP00000428056.1:p.Glu439IlefsTer6
NM_001242466.1:c.225_228del NP_001229395.1:p.Glu76IlefsTer6
NM_001242466.2:c.225_228del NP_001229395.1:p.Glu76IlefsTer6
NM_181504.3:c.504_507del NP_852556.2:p.Glu169IlefsTer6
NM_181504.4:c.504_507del NP_852556.2:p.Glu169IlefsTer6
NM_181523.2:c.1314_1317del NP_852664.1:p.Glu439IlefsTer6
NM_181524.1:c.414_417del NP_852665.1:p.Glu139IlefsTer6
NM_181524.2:c.414_417del NP_852665.1:p.Glu139IlefsTer6
ENST00000320694.12:c.414_417del ENSP00000323512.8:p.Glu139IlefsTer6
ENST00000320694.13:c.414_417del ENSP00000323512.8:p.Glu139IlefsTer6
ENST00000336483.10:c.504_507del ENSP00000338554.5:p.Glu169IlefsTer6
ENST00000336483.9:c.504_507del ENSP00000338554.5:p.Glu169IlefsTer6
ENST00000517643.2:c.1314_1317del ENSP00000513333.1:p.Glu439IlefsTer6
ENST00000517698.5:c.*284_*287del ENSP00000430424.1:n.*284_*287del
ENST00000517698.6:c.*284_*287del ENSP00000430424.1:n.*284_*287del
ENST00000518813.5:n.1857_1860del
ENST00000519025.5:c.333_336del ENSP00000429156.1:p.Glu112IlefsTer6
ENST00000520550.1:n.713_716del
ENST00000521381.5:c.1314_1317del ENSP00000428056.1:p.Glu439IlefsTer6
ENST00000521409.5:c.225_228del ENSP00000431058.1:p.Glu76IlefsTer6
ENST00000521657.5:c.1314_1317del ENSP00000429277.1:p.Glu439IlefsTer6
ENST00000521657.6:c.1314_1317del ENSP00000429277.1:p.Glu439IlefsTer6
ENST00000522084.6:c.504_507del ENSP00000429766.2:p.Glu169IlefsTer6
ENST00000523872.1:c.225_228del ENSP00000430098.1:p.Glu76IlefsTer6
ENST00000697457.1:c.1239_1242del ENSP00000513315.1:p.Glu414IlefsTer6
ENST00000697458.1:c.1314_1317del ENSP00000513316.1:p.Glu439IlefsTer6
ENST00000697460.1:c.789_792del ENSP00000513318.1:p.Glu264IlefsTer6
ENST00000697461.1:c.1314_1317del ENSP00000513319.1:p.Glu439IlefsTer6
ENST00000697462.1:c.504_507del ENSP00000513320.1:p.Glu169IlefsTer6
ENST00000697463.1:n.955_958del
ENST00000697464.1:c.*280_*283del ENSP00000513322.1:n.*280_*283del
ENST00000697465.1:c.351_354del ENSP00000513323.1:p.Glu118IlefsTer6
ENST00000697466.1:c.321_324del ENSP00000513324.1:p.Glu108IlefsTer6
ENST00000697467.1:c.225_228del ENSP00000513325.1:p.Glu76IlefsTer6
ENST00000697468.1:c.297_300del ENSP00000513326.1:p.Glu100IlefsTer6
ENST00000697469.1:c.6_9del ENSP00000513327.1:p.Glu3IlefsTer6
ENST00000697557.1:c.297_300del ENSP00000513335.1:p.Glu100IlefsTer6
XM_005248542.2:c.1314_1317del XP_005248599.1:p.Glu439IlefsTer6
XM_005248542.3:c.1314_1317del XP_005248599.1:p.Glu439IlefsTer6
XM_011543493.1:c.987_990del XP_011541795.1:p.Glu330IlefsTer6
XM_011543493.3:c.987_990del XP_011541795.1:p.Glu330IlefsTer6
XM_017009585.2:c.1314_1317del XP_016865074.1:p.Glu439IlefsTer6
XM_017009586.1:c.1041_1044del XP_016865075.1:p.Glu348IlefsTer6