Canonical Allele Identifier: CA344796

Gene: PIK3R1

Linked Data

• ClinVar Variation Id: 60761
• ClinVar RCV Id: RCV000054532 ; RCV000623355
• dbSNP Id: rs397514046
• MyVariant Identifiers: chr5:g.67591022_67591024del (hg19) ; chr5:g.68295194_68295196del (hg38)
• PubMed: PMID:819054 ; PMID:22351933 ; PMID:23810378 ; PMID:23810379 ; PMID:23810382 ; PMID:24830046 ; PMID:25488983 ; PMID:26497935 ; PMID:26529633 ; PMID:27076228 ; PMID:27116393 ; PMID:27221134

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295194_68295196del , CM000667.2:g.68295194_68295196del	GRCh38
NC_000005.9:g.67591022_67591024del , CM000667.1:g.67591022_67591024del	GRCh37
NC_000005.8:g.67626778_67626780del	NCBI36
NG_012849.2:g.84439_84441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320694.13:c.715_717del	ENSP00000323512.8:p.Ile239del
ENST00000336483.10:c.805_807del	ENSP00000338554.5:p.Ile269del
ENST00000517643.2:c.1615_1617del	ENSP00000513333.1:p.Ile539del
ENST00000517698.6:c.*585_*587del	ENSP00000430424.1:n.*585_*587del
ENST00000521657.6:c.1615_1617del	ENSP00000429277.1:p.Ile539del
ENST00000522084.6:c.805_807del	ENSP00000429766.2:p.Ile269del
ENST00000697457.1:c.1540_1542del	ENSP00000513315.1:p.Ile514del
ENST00000697458.1:c.1615_1617del	ENSP00000513316.1:p.Ile539del
ENST00000697460.1:c.1090_1092del	ENSP00000513318.1:p.Ile364del
ENST00000697461.1:c.1615_1617del	ENSP00000513319.1:p.Ile539del
ENST00000697462.1:c.805_807del	ENSP00000513320.1:p.Ile269del
ENST00000697463.1:n.1256_1258del
ENST00000697464.1:c.*581_*583del	ENSP00000513322.1:n.*581_*583del
ENST00000697465.1:c.652_654del	ENSP00000513323.1:p.Ile218del
ENST00000697466.1:c.622_624del	ENSP00000513324.1:p.Ile208del
ENST00000697467.1:c.526_528del	ENSP00000513325.1:p.Ile176del
ENST00000697468.1:c.598_600del	ENSP00000513326.1:p.Ile200del
ENST00000697469.1:c.307_309del	ENSP00000513327.1:p.Ile103del
ENST00000697470.1:c.211_213del	ENSP00000513328.1:p.Ile71del
ENST00000697557.1:c.598_600del	ENSP00000513335.1:p.Ile200del
ENST00000521381.6:c.1615_1617del MANE Select	ENSP00000428056.1:p.Ile539del
ENST00000320694.12:c.715_717del	ENSP00000323512.8:p.Ile239del
ENST00000336483.9:c.805_807del	ENSP00000338554.5:p.Ile269del
ENST00000517698.5:c.*585_*587del	ENSP00000430424.1:n.*585_*587del
ENST00000518813.5:n.2158_2160del
ENST00000520550.1:n.1014_1016del
ENST00000521381.5:c.1615_1617del	ENSP00000428056.1:p.Ile539del
ENST00000521657.5:c.1615_1617del	ENSP00000429277.1:p.Ile539del
ENST00000523872.1:c.526_528del	ENSP00000430098.1:p.Ile176del
NM_001242466.1:c.526_528del	NP_001229395.1:p.Ile176del
NM_181504.3:c.805_807del	NP_852556.2:p.Ile269del
NM_181523.2:c.1615_1617del	NP_852664.1:p.Ile539del
NM_181524.1:c.715_717del	NP_852665.1:p.Ile239del
XM_005248542.2:c.1615_1617del	XP_005248599.1:p.Ile539del
XM_011543493.1:c.1288_1290del	XP_011541795.1:p.Ile430del
XM_005248542.3:c.1615_1617del	XP_005248599.1:p.Ile539del
XM_011543493.3:c.1288_1290del	XP_011541795.1:p.Ile430del
XM_017009585.2:c.1615_1617del	XP_016865074.1:p.Ile539del
XM_017009586.1:c.1342_1344del	XP_016865075.1:p.Ile448del
NM_181523.3:c.1615_1617del MANE Select	NP_852664.1:p.Ile539del
NM_001242466.2:c.526_528del	NP_001229395.1:p.Ile176del
NM_181504.4:c.805_807del	NP_852556.2:p.Ile269del
NM_181524.2:c.715_717del	NP_852665.1:p.Ile239del