Canonical Allele Identifier: CA3290458

Gene: PIK3R1

Linked Data

• dbSNP Id: rs758509723
• ExAC: 5:67591083 TTGACAAACGTATGAACAG / T
• MyVariant Identifiers: chr5:g.67591084_67591101del (hg19) ; chr5:g.68295256_68295273del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295256_68295273del , CM000667.2:g.68295256_68295273del	GRCh38
NC_000005.9:g.67591084_67591101del , CM000667.1:g.67591084_67591101del	GRCh37
NC_000005.8:g.67626840_67626857del	NCBI36
NG_012849.2:g.84501_84518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.777_794del	ENSP00000323512.8:p.Asp260_Ser265del
ENST00000336483.10:c.867_884del	ENSP00000338554.5:p.Asp290_Ser295del
ENST00000517643.2:c.1677_1694del	ENSP00000513333.1:p.Asp560_Ser565del
ENST00000517698.6:c.*647_*664del	ENSP00000430424.1:n.*647_*664del
ENST00000521657.6:c.1677_1694del	ENSP00000429277.1:p.Asp560_Ser565del
ENST00000522084.6:c.867_884del	ENSP00000429766.2:p.Asp290_Ser295del
ENST00000697457.1:c.1602_1619del	ENSP00000513315.1:p.Asp535_Ser540del
ENST00000697458.1:c.1677_1694del	ENSP00000513316.1:p.Asp560_Ser565del
ENST00000697460.1:c.1152_1169del	ENSP00000513318.1:p.Asp385_Ser390del
ENST00000697461.1:c.1677_1694del	ENSP00000513319.1:p.Asp560_Ser565del
ENST00000697462.1:c.867_884del	ENSP00000513320.1:p.Asp290_Ser295del
ENST00000697463.1:n.1318_1335del
ENST00000697464.1:c.*643_*660del	ENSP00000513322.1:n.*643_*660del
ENST00000697465.1:c.714_731del	ENSP00000513323.1:p.Asp239_Ser244del
ENST00000697466.1:c.684_701del	ENSP00000513324.1:p.Asp229_Ser234del
ENST00000697467.1:c.588_605del	ENSP00000513325.1:p.Asp197_Ser202del
ENST00000697468.1:c.660_677del	ENSP00000513326.1:p.Asp221_Ser226del
ENST00000697469.1:c.369_386del	ENSP00000513327.1:p.Asp124_Ser129del
ENST00000697470.1:c.273_290del	ENSP00000513328.1:p.Asp92_Ser97del
ENST00000697557.1:c.660_677del	ENSP00000513335.1:p.Asp221_Ser226del
ENST00000521381.6:c.1677_1694del MANE Select	ENSP00000428056.1:p.Asp560_Ser565del
ENST00000320694.12:c.777_794del	ENSP00000323512.8:p.Asp260_Ser265del
ENST00000336483.9:c.867_884del	ENSP00000338554.5:p.Asp290_Ser295del
ENST00000517698.5:c.*647_*664del	ENSP00000430424.1:n.*647_*664del
ENST00000518813.5:n.2220_2237del
ENST00000520550.1:n.1076_1093del
ENST00000521381.5:c.1677_1694del	ENSP00000428056.1:p.Asp560_Ser565del
ENST00000521657.5:c.1677_1694del	ENSP00000429277.1:p.Asp560_Ser565del
ENST00000523872.1:c.588_605del	ENSP00000430098.1:p.Asp197_Ser202del
NM_001242466.1:c.588_605del	NP_001229395.1:p.Asp197_Ser202del
NM_181504.3:c.867_884del	NP_852556.2:p.Asp290_Ser295del
NM_181523.2:c.1677_1694del	NP_852664.1:p.Asp560_Ser565del
NM_181524.1:c.777_794del	NP_852665.1:p.Asp260_Ser265del
XM_005248542.2:c.1677_1694del	XP_005248599.1:p.Asp560_Ser565del
XM_011543493.1:c.1350_1367del	XP_011541795.1:p.Asp451_Ser456del
XM_005248542.3:c.1677_1694del	XP_005248599.1:p.Asp560_Ser565del
XM_011543493.3:c.1350_1367del	XP_011541795.1:p.Asp451_Ser456del
XM_017009585.2:c.1677_1694del	XP_016865074.1:p.Asp560_Ser565del
XM_017009586.1:c.1404_1421del	XP_016865075.1:p.Asp469_Ser474del
NM_181523.3:c.1677_1694del MANE Select	NP_852664.1:p.Asp560_Ser565del
NM_001242466.2:c.588_605del	NP_001229395.1:p.Asp197_Ser202del
NM_181504.4:c.867_884del	NP_852556.2:p.Asp290_Ser295del
NM_181524.2:c.777_794del	NP_852665.1:p.Asp260_Ser265del