Canonical Allele Identifier: CA3290466

Gene: PIK3R1

Linked Data

• ClinVar Variation Id: 996076
• ClinVar RCV Id: RCV001290354 ; RCV002221158
• dbSNP Id: rs751582616
• ExAC: 5:67591139 GACCAAT / G
• gnomAD v2: 5-67591139-GACCAAT-G
• MyVariant Identifiers: chr5:g.67591140_67591145del (hg19) ; chr5:g.68295312_68295317del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295314_68295319del , CM000667.2:g.68295314_68295319del	GRCh38
NC_000005.9:g.67591142_67591147del , CM000667.1:g.67591142_67591147del	GRCh37
NC_000005.8:g.67626898_67626903del	NCBI36
NG_012849.2:g.84559_84564del

Transcript Alleles

HGVS	Amino-acid change
ENST00000320694.13:c.835_840del	ENSP00000323512.8:p.Gln279_Tyr280del
ENST00000336483.10:c.925_930del	ENSP00000338554.5:p.Gln309_Tyr310del
ENST00000517643.2:c.1735_1740del	ENSP00000513333.1:p.Gln579_Tyr580del
ENST00000517698.6:c.*705_*710del	ENSP00000430424.1:n.*705_*710del
ENST00000521657.6:c.1735_1740del	ENSP00000429277.1:p.Gln579_Tyr580del
ENST00000522084.6:c.925_930del	ENSP00000429766.2:p.Gln309_Tyr310del
ENST00000697457.1:c.1660_1665del	ENSP00000513315.1:p.Gln554_Tyr555del
ENST00000697458.1:c.1735_1740del	ENSP00000513316.1:p.Gln579_Tyr580del
ENST00000697460.1:c.1210_1215del	ENSP00000513318.1:p.Gln404_Tyr405del
ENST00000697461.1:c.1735_1740del	ENSP00000513319.1:p.Gln579_Tyr580del
ENST00000697462.1:c.925_930del	ENSP00000513320.1:p.Gln309_Tyr310del
ENST00000697463.1:n.1376_1381del
ENST00000697464.1:c.*701_*706del	ENSP00000513322.1:n.*701_*706del
ENST00000697465.1:c.772_777del	ENSP00000513323.1:p.Gln258_Tyr259del
ENST00000697466.1:c.742_747del	ENSP00000513324.1:p.Gln248_Tyr249del
ENST00000697467.1:c.646_651del	ENSP00000513325.1:p.Gln216_Tyr217del
ENST00000697468.1:c.718_723del	ENSP00000513326.1:p.Gln240_Tyr241del
ENST00000697469.1:c.427_432del	ENSP00000513327.1:p.Gln143_Tyr144del
ENST00000697470.1:c.331_336del	ENSP00000513328.1:p.Gln111_Tyr112del
ENST00000697557.1:c.718_723del	ENSP00000513335.1:p.Gln240_Tyr241del
ENST00000521381.6:c.1735_1740del MANE Select	ENSP00000428056.1:p.Gln579_Tyr580del
ENST00000320694.12:c.835_840del	ENSP00000323512.8:p.Gln279_Tyr280del
ENST00000336483.9:c.925_930del	ENSP00000338554.5:p.Gln309_Tyr310del
ENST00000517698.5:c.*705_*710del	ENSP00000430424.1:n.*705_*710del
ENST00000518813.5:n.2278_2283del
ENST00000520550.1:n.1134_1139del
ENST00000521381.5:c.1735_1740del	ENSP00000428056.1:p.Gln579_Tyr580del
ENST00000521657.5:c.1735_1740del	ENSP00000429277.1:p.Gln579_Tyr580del
ENST00000523872.1:c.646_651del	ENSP00000430098.1:p.Gln216_Tyr217del
NM_001242466.1:c.646_651del	NP_001229395.1:p.Gln216_Tyr217del
NM_181504.3:c.925_930del	NP_852556.2:p.Gln309_Tyr310del
NM_181523.2:c.1735_1740del	NP_852664.1:p.Gln579_Tyr580del
NM_181524.1:c.835_840del	NP_852665.1:p.Gln279_Tyr280del
XM_005248542.2:c.1735_1740del	XP_005248599.1:p.Gln579_Tyr580del
XM_011543493.1:c.1408_1413del	XP_011541795.1:p.Gln470_Tyr471del
XM_005248542.3:c.1735_1740del	XP_005248599.1:p.Gln579_Tyr580del
XM_011543493.3:c.1408_1413del	XP_011541795.1:p.Gln470_Tyr471del
XM_017009585.2:c.1735_1740del	XP_016865074.1:p.Gln579_Tyr580del
XM_017009586.1:c.1462_1467del	XP_016865075.1:p.Gln488_Tyr489del
NM_181523.3:c.1735_1740del MANE Select	NP_852664.1:p.Gln579_Tyr580del
NM_001242466.2:c.646_651del	NP_001229395.1:p.Gln216_Tyr217del
NM_181504.4:c.925_930del	NP_852556.2:p.Gln309_Tyr310del
NM_181524.2:c.835_840del	NP_852665.1:p.Gln279_Tyr280del