Canonical Allele Identifier: CA344800
Gene: PIK3R1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.68296299dup , CM000667.2:g.68296299dup GRCh38
NC_000005.9:g.67592127dup , CM000667.1:g.67592127dup GRCh37
NC_000005.8:g.67627883dup NCBI36
NG_012849.2:g.85544dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320694.13:c.1043dup ENSP00000323512.8:p.Arg349ProfsTer5
ENST00000336483.10:c.1133dup ENSP00000338554.5:p.Arg379ProfsTer5
ENST00000517643.2:c.1943dup ENSP00000513333.1:p.Arg649ProfsTer5
ENST00000517698.6:c.*913dup ENSP00000430424.1:n.*913dup
ENST00000521657.6:c.1943dup ENSP00000429277.1:p.Arg649ProfsTer5
ENST00000522084.6:c.1133dup ENSP00000429766.2:p.Arg379ProfsTer5
ENST00000697457.1:c.1868dup ENSP00000513315.1:p.Arg624ProfsTer5
ENST00000697458.1:c.1943dup ENSP00000513316.1:p.Arg649ProfsTer5
ENST00000697460.1:c.1418dup ENSP00000513318.1:p.Arg474ProfsTer5
ENST00000697461.1:c.1967dup ENSP00000513319.1:p.Arg657ProfsTer5
ENST00000697462.1:c.1157dup ENSP00000513320.1:p.Arg387ProfsTer5
ENST00000697463.1:n.1608dup
ENST00000697464.1:c.*909dup ENSP00000513322.1:n.*909dup
ENST00000697465.1:c.980dup ENSP00000513323.1:p.Arg328ProfsTer5
ENST00000697466.1:c.950dup ENSP00000513324.1:p.Arg318ProfsTer5
ENST00000697467.1:c.854dup ENSP00000513325.1:p.Arg286ProfsTer5
ENST00000697468.1:c.926dup ENSP00000513326.1:p.Arg310ProfsTer5
ENST00000697469.1:c.635dup ENSP00000513327.1:p.Arg213ProfsTer5
ENST00000697470.1:c.539dup ENSP00000513328.1:p.Arg181ProfsTer5
ENST00000697557.1:c.926dup ENSP00000513335.1:p.Arg310ProfsTer5
ENST00000521381.6:c.1943dup MANE Select ENSP00000428056.1:p.Arg649ProfsTer5
ENST00000320694.12:c.1043dup ENSP00000323512.8:p.Arg349ProfsTer5
ENST00000336483.9:c.1133dup ENSP00000338554.5:p.Arg379ProfsTer5
ENST00000518813.5:n.2486dup
ENST00000521381.5:c.1943dup ENSP00000428056.1:p.Arg649ProfsTer5
ENST00000521657.5:c.1943dup ENSP00000429277.1:p.Arg649ProfsTer5
ENST00000523872.1:c.854dup ENSP00000430098.1:p.Arg286ProfsTer5
NM_001242466.1:c.854dup NP_001229395.1:p.Arg286ProfsTer5
NM_181504.3:c.1133dup NP_852556.2:p.Arg379ProfsTer5
NM_181523.2:c.1943dup NP_852664.1:p.Arg649ProfsTer5
NM_181524.1:c.1043dup NP_852665.1:p.Arg349ProfsTer5
XM_005248542.2:c.1943dup XP_005248599.1:p.Arg649ProfsTer5
XM_011543493.1:c.1616dup XP_011541795.1:p.Arg540ProfsTer5
XM_005248542.3:c.1943dup XP_005248599.1:p.Arg649ProfsTer5
XM_011543493.3:c.1616dup XP_011541795.1:p.Arg540ProfsTer5
XM_017009585.2:c.1943dup XP_016865074.1:p.Arg649ProfsTer5
XM_017009586.1:c.1670dup XP_016865075.1:p.Arg558ProfsTer5
NM_181523.3:c.1943dup MANE Select NP_852664.1:p.Arg649ProfsTer5
NM_001242466.2:c.854dup NP_001229395.1:p.Arg286ProfsTer5
NM_181504.4:c.1133dup NP_852556.2:p.Arg379ProfsTer5
NM_181524.2:c.1043dup NP_852665.1:p.Arg349ProfsTer5