Canonical Allele Identifier: CA645556595
Gene: PIK3R1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68295268_68295288del , CM000667.2:g.68295268_68295288del GRCh38
NC_000005.9:g.67591096_67591116del , CM000667.1:g.67591096_67591116del GRCh37
NC_000005.8:g.67626852_67626872del NCBI36
NG_012849.2:g.84513_84533del

Transcript Alleles

HGVS Amino-acid change
ENST00000320694.13:c.789_809del ENSP00000323512.8:p.Met263_Leu270delinsIle
ENST00000336483.10:c.879_899del ENSP00000338554.5:p.Met293_Leu300delinsIle
ENST00000517643.2:c.1689_1709del ENSP00000513333.1:p.Met563_Leu570delinsIle
ENST00000517698.6:c.*659_*679del ENSP00000430424.1:n.*659_*679del
ENST00000521657.6:c.1689_1709del ENSP00000429277.1:p.Met563_Leu570delinsIle
ENST00000522084.6:c.879_899del ENSP00000429766.2:p.Met293_Leu300delinsIle
ENST00000697457.1:c.1614_1634del ENSP00000513315.1:p.Met538_Leu545delinsIle
ENST00000697458.1:c.1689_1709del ENSP00000513316.1:p.Met563_Leu570delinsIle
ENST00000697460.1:c.1164_1184del ENSP00000513318.1:p.Met388_Leu395delinsIle
ENST00000697461.1:c.1689_1709del ENSP00000513319.1:p.Met563_Leu570delinsIle
ENST00000697462.1:c.879_899del ENSP00000513320.1:p.Met293_Leu300delinsIle
ENST00000697463.1:n.1330_1350del
ENST00000697464.1:c.*655_*675del ENSP00000513322.1:n.*655_*675del
ENST00000697465.1:c.726_746del ENSP00000513323.1:p.Met242_Leu249delinsIle
ENST00000697466.1:c.696_716del ENSP00000513324.1:p.Met232_Leu239delinsIle
ENST00000697467.1:c.600_620del ENSP00000513325.1:p.Met200_Leu207delinsIle
ENST00000697468.1:c.672_692del ENSP00000513326.1:p.Met224_Leu231delinsIle
ENST00000697469.1:c.381_401del ENSP00000513327.1:p.Met127_Leu134delinsIle
ENST00000697470.1:c.285_305del ENSP00000513328.1:p.Met95_Leu102delinsIle
ENST00000697557.1:c.672_692del ENSP00000513335.1:p.Met224_Leu231delinsIle
ENST00000521381.6:c.1689_1709del MANE Select ENSP00000428056.1:p.Met563_Leu570delinsIle
ENST00000320694.12:c.789_809del ENSP00000323512.8:p.Met263_Leu270delinsIle
ENST00000336483.9:c.879_899del ENSP00000338554.5:p.Met293_Leu300delinsIle
ENST00000517698.5:c.*659_*679del ENSP00000430424.1:n.*659_*679del
ENST00000518813.5:n.2232_2252del
ENST00000520550.1:n.1088_1108del
ENST00000521381.5:c.1689_1709del ENSP00000428056.1:p.Met563_Leu570delinsIle
ENST00000521657.5:c.1689_1709del ENSP00000429277.1:p.Met563_Leu570delinsIle
ENST00000523872.1:c.600_620del ENSP00000430098.1:p.Met200_Leu207delinsIle
NM_001242466.1:c.600_620del NP_001229395.1:p.Met200_Leu207delinsIle
NM_181504.3:c.879_899del NP_852556.2:p.Met293_Leu300delinsIle
NM_181523.2:c.1689_1709del NP_852664.1:p.Met563_Leu570delinsIle
NM_181524.1:c.789_809del NP_852665.1:p.Met263_Leu270delinsIle
XM_005248542.2:c.1689_1709del XP_005248599.1:p.Met563_Leu570delinsIle
XM_011543493.1:c.1362_1382del XP_011541795.1:p.Met454_Leu461delinsIle
XM_005248542.3:c.1689_1709del XP_005248599.1:p.Met563_Leu570delinsIle
XM_011543493.3:c.1362_1382del XP_011541795.1:p.Met454_Leu461delinsIle
XM_017009585.2:c.1689_1709del XP_016865074.1:p.Met563_Leu570delinsIle
XM_017009586.1:c.1416_1436del XP_016865075.1:p.Met472_Leu479delinsIle
NM_181523.3:c.1689_1709del MANE Select NP_852664.1:p.Met563_Leu570delinsIle
NM_001242466.2:c.600_620del NP_001229395.1:p.Met200_Leu207delinsIle
NM_181504.4:c.879_899del NP_852556.2:p.Met293_Leu300delinsIle
NM_181524.2:c.789_809del NP_852665.1:p.Met263_Leu270delinsIle