Canonical Allele Identifier: CA645556612

Gene: PIK3R1

Linked Data

• ClinVar Variation Id: 1676212
• ClinVar RCV Id: RCV002221175
• dbSNP Id: rs2112276825
• COSMIC: COSM87219 ; COSM1069621 ; COSM1595630 ; COSM1595631 ; COSM1717418 ; COSM4970986 ; COSM4970987 ; COSM4970988

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295302_68295310del , CM000667.2:g.68295302_68295310del	GRCh38
NC_000005.9:g.67591130_67591138del , CM000667.1:g.67591130_67591138del	GRCh37
NC_000005.8:g.67626886_67626894del	NCBI36
NG_012849.2:g.84547_84555del

Transcript Alleles

HGVS	Amino-acid change
ENST00000320694.13:c.823_831del	ENSP00000323512.8:p.Lys275_Arg277del
ENST00000336483.10:c.913_921del	ENSP00000338554.5:p.Lys305_Arg307del
ENST00000517643.2:c.1723_1731del	ENSP00000513333.1:p.Lys575_Arg577del
ENST00000517698.6:c.*693_*701del	ENSP00000430424.1:n.*693_*701del
ENST00000521657.6:c.1723_1731del	ENSP00000429277.1:p.Lys575_Arg577del
ENST00000522084.6:c.913_921del	ENSP00000429766.2:p.Lys305_Arg307del
ENST00000697457.1:c.1648_1656del	ENSP00000513315.1:p.Lys550_Arg552del
ENST00000697458.1:c.1723_1731del	ENSP00000513316.1:p.Lys575_Arg577del
ENST00000697460.1:c.1198_1206del	ENSP00000513318.1:p.Lys400_Arg402del
ENST00000697461.1:c.1723_1731del	ENSP00000513319.1:p.Lys575_Arg577del
ENST00000697462.1:c.913_921del	ENSP00000513320.1:p.Lys305_Arg307del
ENST00000697463.1:n.1364_1372del
ENST00000697464.1:c.*689_*697del	ENSP00000513322.1:n.*689_*697del
ENST00000697465.1:c.760_768del	ENSP00000513323.1:p.Lys254_Arg256del
ENST00000697466.1:c.730_738del	ENSP00000513324.1:p.Lys244_Arg246del
ENST00000697467.1:c.634_642del	ENSP00000513325.1:p.Lys212_Arg214del
ENST00000697468.1:c.706_714del	ENSP00000513326.1:p.Lys236_Arg238del
ENST00000697469.1:c.415_423del	ENSP00000513327.1:p.Lys139_Arg141del
ENST00000697470.1:c.319_327del	ENSP00000513328.1:p.Lys107_Arg109del
ENST00000697557.1:c.706_714del	ENSP00000513335.1:p.Lys236_Arg238del
ENST00000521381.6:c.1723_1731del MANE Select	ENSP00000428056.1:p.Lys575_Arg577del
ENST00000320694.12:c.823_831del	ENSP00000323512.8:p.Lys275_Arg277del
ENST00000336483.9:c.913_921del	ENSP00000338554.5:p.Lys305_Arg307del
ENST00000517698.5:c.*693_*701del	ENSP00000430424.1:n.*693_*701del
ENST00000518813.5:n.2266_2274del
ENST00000520550.1:n.1122_1130del
ENST00000521381.5:c.1723_1731del	ENSP00000428056.1:p.Lys575_Arg577del
ENST00000521657.5:c.1723_1731del	ENSP00000429277.1:p.Lys575_Arg577del
ENST00000523872.1:c.634_642del	ENSP00000430098.1:p.Lys212_Arg214del
NM_001242466.1:c.634_642del	NP_001229395.1:p.Lys212_Arg214del
NM_181504.3:c.913_921del	NP_852556.2:p.Lys305_Arg307del
NM_181523.2:c.1723_1731del	NP_852664.1:p.Lys575_Arg577del
NM_181524.1:c.823_831del	NP_852665.1:p.Lys275_Arg277del
XM_005248542.2:c.1723_1731del	XP_005248599.1:p.Lys575_Arg577del
XM_011543493.1:c.1396_1404del	XP_011541795.1:p.Lys466_Arg468del
XM_005248542.3:c.1723_1731del	XP_005248599.1:p.Lys575_Arg577del
XM_011543493.3:c.1396_1404del	XP_011541795.1:p.Lys466_Arg468del
XM_017009585.2:c.1723_1731del	XP_016865074.1:p.Lys575_Arg577del
XM_017009586.1:c.1450_1458del	XP_016865075.1:p.Lys484_Arg486del
NM_181523.3:c.1723_1731del MANE Select	NP_852664.1:p.Lys575_Arg577del
NM_001242466.2:c.634_642del	NP_001229395.1:p.Lys212_Arg214del
NM_181504.4:c.913_921del	NP_852556.2:p.Lys305_Arg307del
NM_181524.2:c.823_831del	NP_852665.1:p.Lys275_Arg277del