Canonical Allele Identifier: CA2740091738

Gene: PIK3R1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68293715_68293722del , CM000667.2:g.68293715_68293722del	GRCh38
NC_000005.9:g.67589543_67589550del , CM000667.1:g.67589543_67589550del	GRCh37
NC_000005.8:g.67625299_67625306del	NCBI36
NG_012849.2:g.82960_82967del

Transcript Alleles

HGVS	Amino-acid Change
NM_181523.3:c.1306_1313del MANE Select	NP_852664.1:p.Val436ArgfsTer3
ENST00000521381.6:c.1306_1313del MANE Select	ENSP00000428056.1:p.Val436ArgfsTer3
NM_001242466.1:c.217_224del	NP_001229395.1:p.Val73ArgfsTer3
NM_001242466.2:c.217_224del	NP_001229395.1:p.Val73ArgfsTer3
NM_181504.3:c.496_503del	NP_852556.2:p.Val166ArgfsTer3
NM_181504.4:c.496_503del	NP_852556.2:p.Val166ArgfsTer3
NM_181523.2:c.1306_1313del	NP_852664.1:p.Val436ArgfsTer3
NM_181524.1:c.406_413del	NP_852665.1:p.Val136ArgfsTer3
NM_181524.2:c.406_413del	NP_852665.1:p.Val136ArgfsTer3
ENST00000320694.12:c.406_413del	ENSP00000323512.8:p.Val136ArgfsTer3
ENST00000320694.13:c.406_413del	ENSP00000323512.8:p.Val136ArgfsTer3
ENST00000336483.10:c.496_503del	ENSP00000338554.5:p.Val166ArgfsTer3
ENST00000336483.9:c.496_503del	ENSP00000338554.5:p.Val166ArgfsTer3
ENST00000517643.2:c.1306_1313del	ENSP00000513333.1:p.Val436ArgfsTer3
ENST00000517698.5:c.*276_*283del	ENSP00000430424.1:n.*276_*283del
ENST00000517698.6:c.*276_*283del	ENSP00000430424.1:n.*276_*283del
ENST00000518813.5:n.1849_1856del
ENST00000519025.5:c.325_332del	ENSP00000429156.1:p.Val109ArgfsTer3
ENST00000520550.1:n.705_712del
ENST00000521381.5:c.1306_1313del	ENSP00000428056.1:p.Val436ArgfsTer3
ENST00000521409.5:c.217_224del	ENSP00000431058.1:p.Val73ArgfsTer3
ENST00000521657.5:c.1306_1313del	ENSP00000429277.1:p.Val436ArgfsTer3
ENST00000521657.6:c.1306_1313del	ENSP00000429277.1:p.Val436ArgfsTer3
ENST00000522084.6:c.496_503del	ENSP00000429766.2:p.Val166ArgfsTer3
ENST00000523872.1:c.217_224del	ENSP00000430098.1:p.Val73ArgfsTer3
ENST00000697457.1:c.1231_1238del	ENSP00000513315.1:p.Val411ArgfsTer3
ENST00000697458.1:c.1306_1313del	ENSP00000513316.1:p.Val436ArgfsTer3
ENST00000697460.1:c.781_788del	ENSP00000513318.1:p.Val261ArgfsTer3
ENST00000697461.1:c.1306_1313del	ENSP00000513319.1:p.Val436ArgfsTer3
ENST00000697462.1:c.496_503del	ENSP00000513320.1:p.Val166ArgfsTer3
ENST00000697463.1:n.947_954del
ENST00000697464.1:c.*272_*279del	ENSP00000513322.1:n.*272_*279del
ENST00000697465.1:c.343_350del	ENSP00000513323.1:p.Val115ArgfsTer3
ENST00000697466.1:c.313_320del	ENSP00000513324.1:p.Val105ArgfsTer3
ENST00000697467.1:c.217_224del	ENSP00000513325.1:p.Val73ArgfsTer3
ENST00000697468.1:c.289_296del	ENSP00000513326.1:p.Val97ArgfsTer3
ENST00000697556.1:c.1213_1220del	ENSP00000513334.1:p.Val405=
ENST00000697557.1:c.289_296del	ENSP00000513335.1:p.Val97ArgfsTer3
XM_005248542.2:c.1306_1313del	XP_005248599.1:p.Val436ArgfsTer3
XM_005248542.3:c.1306_1313del	XP_005248599.1:p.Val436ArgfsTer3
XM_011543493.1:c.979_986del	XP_011541795.1:p.Val327ArgfsTer3
XM_011543493.3:c.979_986del	XP_011541795.1:p.Val327ArgfsTer3
XM_017009585.2:c.1306_1313del	XP_016865074.1:p.Val436ArgfsTer3
XM_017009586.1:c.1033_1040del	XP_016865075.1:p.Val345ArgfsTer3