Canonical Allele Identifier: CA3290462

Gene: PIK3R1

Linked Data

• dbSNP Id: rs766504215
• ExAC: 5:67591132 GACGAGA / G
• gnomAD v2: 5-67591132-GACGAGA-G
• MyVariant Identifiers: chr5:g.67591133_67591138del (hg19) ; chr5:g.68295305_68295310del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295305_68295310del , CM000667.2:g.68295305_68295310del	GRCh38
NC_000005.9:g.67591133_67591138del , CM000667.1:g.67591133_67591138del	GRCh37
NC_000005.8:g.67626889_67626894del	NCBI36
NG_012849.2:g.84550_84555del

Transcript Alleles

HGVS	Amino-acid change
ENST00000320694.13:c.826_831del	ENSP00000323512.8:p.Thr276_Arg277del
ENST00000336483.10:c.916_921del	ENSP00000338554.5:p.Thr306_Arg307del
ENST00000517643.2:c.1726_1731del	ENSP00000513333.1:p.Thr576_Arg577del
ENST00000517698.6:c.*696_*701del	ENSP00000430424.1:n.*696_*701del
ENST00000521657.6:c.1726_1731del	ENSP00000429277.1:p.Thr576_Arg577del
ENST00000522084.6:c.916_921del	ENSP00000429766.2:p.Thr306_Arg307del
ENST00000697457.1:c.1651_1656del	ENSP00000513315.1:p.Thr551_Arg552del
ENST00000697458.1:c.1726_1731del	ENSP00000513316.1:p.Thr576_Arg577del
ENST00000697460.1:c.1201_1206del	ENSP00000513318.1:p.Thr401_Arg402del
ENST00000697461.1:c.1726_1731del	ENSP00000513319.1:p.Thr576_Arg577del
ENST00000697462.1:c.916_921del	ENSP00000513320.1:p.Thr306_Arg307del
ENST00000697463.1:n.1367_1372del
ENST00000697464.1:c.*692_*697del	ENSP00000513322.1:n.*692_*697del
ENST00000697465.1:c.763_768del	ENSP00000513323.1:p.Thr255_Arg256del
ENST00000697466.1:c.733_738del	ENSP00000513324.1:p.Thr245_Arg246del
ENST00000697467.1:c.637_642del	ENSP00000513325.1:p.Thr213_Arg214del
ENST00000697468.1:c.709_714del	ENSP00000513326.1:p.Thr237_Arg238del
ENST00000697469.1:c.418_423del	ENSP00000513327.1:p.Thr140_Arg141del
ENST00000697470.1:c.322_327del	ENSP00000513328.1:p.Thr108_Arg109del
ENST00000697557.1:c.709_714del	ENSP00000513335.1:p.Thr237_Arg238del
ENST00000521381.6:c.1726_1731del MANE Select	ENSP00000428056.1:p.Thr576_Arg577del
ENST00000320694.12:c.826_831del	ENSP00000323512.8:p.Thr276_Arg277del
ENST00000336483.9:c.916_921del	ENSP00000338554.5:p.Thr306_Arg307del
ENST00000517698.5:c.*696_*701del	ENSP00000430424.1:n.*696_*701del
ENST00000518813.5:n.2269_2274del
ENST00000520550.1:n.1125_1130del
ENST00000521381.5:c.1726_1731del	ENSP00000428056.1:p.Thr576_Arg577del
ENST00000521657.5:c.1726_1731del	ENSP00000429277.1:p.Thr576_Arg577del
ENST00000523872.1:c.637_642del	ENSP00000430098.1:p.Thr213_Arg214del
NM_001242466.1:c.637_642del	NP_001229395.1:p.Thr213_Arg214del
NM_181504.3:c.916_921del	NP_852556.2:p.Thr306_Arg307del
NM_181523.2:c.1726_1731del	NP_852664.1:p.Thr576_Arg577del
NM_181524.1:c.826_831del	NP_852665.1:p.Thr276_Arg277del
XM_005248542.2:c.1726_1731del	XP_005248599.1:p.Thr576_Arg577del
XM_011543493.1:c.1399_1404del	XP_011541795.1:p.Thr467_Arg468del
XM_005248542.3:c.1726_1731del	XP_005248599.1:p.Thr576_Arg577del
XM_011543493.3:c.1399_1404del	XP_011541795.1:p.Thr467_Arg468del
XM_017009585.2:c.1726_1731del	XP_016865074.1:p.Thr576_Arg577del
XM_017009586.1:c.1453_1458del	XP_016865075.1:p.Thr485_Arg486del
NM_181523.3:c.1726_1731del MANE Select	NP_852664.1:p.Thr576_Arg577del
NM_001242466.2:c.637_642del	NP_001229395.1:p.Thr213_Arg214del
NM_181504.4:c.916_921del	NP_852556.2:p.Thr306_Arg307del
NM_181524.2:c.826_831del	NP_852665.1:p.Thr276_Arg277del