Canonical Allele Identifier: CA1139658872

Gene: PIK3R1

Linked Data

• ClinVar Variation Id: 976243
• ClinVar RCV Id: RCV001253474
• dbSNP Id: rs1747639986

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295188_68295202del , CM000667.2:g.68295188_68295202del	GRCh38
NC_000005.9:g.67591016_67591030del , CM000667.1:g.67591016_67591030del	GRCh37
NC_000005.8:g.67626772_67626786del	NCBI36
NG_012849.2:g.84433_84447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.709_723del	ENSP00000323512.8:p.Glu237_Ser241del
ENST00000336483.10:c.799_813del	ENSP00000338554.5:p.Glu267_Ser271del
ENST00000517643.2:c.1609_1623del	ENSP00000513333.1:p.Glu537_Ser541del
ENST00000517698.6:c.*579_*593del	ENSP00000430424.1:n.*579_*593del
ENST00000521657.6:c.1609_1623del	ENSP00000429277.1:p.Glu537_Ser541del
ENST00000522084.6:c.799_813del	ENSP00000429766.2:p.Glu267_Ser271del
ENST00000697457.1:c.1534_1548del	ENSP00000513315.1:p.Glu512_Ser516del
ENST00000697458.1:c.1609_1623del	ENSP00000513316.1:p.Glu537_Ser541del
ENST00000697460.1:c.1084_1098del	ENSP00000513318.1:p.Glu362_Ser366del
ENST00000697461.1:c.1609_1623del	ENSP00000513319.1:p.Glu537_Ser541del
ENST00000697462.1:c.799_813del	ENSP00000513320.1:p.Glu267_Ser271del
ENST00000697463.1:n.1250_1264del
ENST00000697464.1:c.*575_*589del	ENSP00000513322.1:n.*575_*589del
ENST00000697465.1:c.646_660del	ENSP00000513323.1:p.Glu216_Ser220del
ENST00000697466.1:c.616_630del	ENSP00000513324.1:p.Glu206_Ser210del
ENST00000697467.1:c.520_534del	ENSP00000513325.1:p.Glu174_Ser178del
ENST00000697468.1:c.592_606del	ENSP00000513326.1:p.Glu198_Ser202del
ENST00000697469.1:c.301_315del	ENSP00000513327.1:p.Glu101_Ser105del
ENST00000697470.1:c.205_219del	ENSP00000513328.1:p.Glu69_Ser73del
ENST00000697557.1:c.592_606del	ENSP00000513335.1:p.Glu198_Ser202del
ENST00000521381.6:c.1609_1623del MANE Select	ENSP00000428056.1:p.Glu537_Ser541del
ENST00000320694.12:c.709_723del	ENSP00000323512.8:p.Glu237_Ser241del
ENST00000336483.9:c.799_813del	ENSP00000338554.5:p.Glu267_Ser271del
ENST00000517698.5:c.*579_*593del	ENSP00000430424.1:n.*579_*593del
ENST00000518813.5:n.2152_2166del
ENST00000520550.1:n.1008_1022del
ENST00000521381.5:c.1609_1623del	ENSP00000428056.1:p.Glu537_Ser541del
ENST00000521657.5:c.1609_1623del	ENSP00000429277.1:p.Glu537_Ser541del
ENST00000523872.1:c.520_534del	ENSP00000430098.1:p.Glu174_Ser178del
NM_001242466.1:c.520_534del	NP_001229395.1:p.Glu174_Ser178del
NM_181504.3:c.799_813del	NP_852556.2:p.Glu267_Ser271del
NM_181523.2:c.1609_1623del	NP_852664.1:p.Glu537_Ser541del
NM_181524.1:c.709_723del	NP_852665.1:p.Glu237_Ser241del
XM_005248542.2:c.1609_1623del	XP_005248599.1:p.Glu537_Ser541del
XM_011543493.1:c.1282_1296del	XP_011541795.1:p.Glu428_Ser432del
XM_005248542.3:c.1609_1623del	XP_005248599.1:p.Glu537_Ser541del
XM_011543493.3:c.1282_1296del	XP_011541795.1:p.Glu428_Ser432del
XM_017009585.2:c.1609_1623del	XP_016865074.1:p.Glu537_Ser541del
XM_017009586.1:c.1336_1350del	XP_016865075.1:p.Glu446_Ser450del
NM_181523.3:c.1609_1623del MANE Select	NP_852664.1:p.Glu537_Ser541del
NM_001242466.2:c.520_534del	NP_001229395.1:p.Glu174_Ser178del
NM_181504.4:c.799_813del	NP_852556.2:p.Glu267_Ser271del
NM_181524.2:c.709_723del	NP_852665.1:p.Glu237_Ser241del