Canonical Allele Identifier: CA2674090562

Gene: PIK3R1

Linked Data

• gnomAD v4: 5-68295270-ACAGCAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68295271_68295276del , CM000667.2:g.68295271_68295276del	GRCh38
NC_000005.9:g.67591099_67591104del , CM000667.1:g.67591099_67591104del	GRCh37
NC_000005.8:g.67626855_67626860del	NCBI36
NG_012849.2:g.84516_84521del

Transcript Alleles

HGVS	Amino-acid change
ENST00000320694.13:c.792_797del	ENSP00000323512.8:p.Ser265_Ile266del
ENST00000336483.10:c.882_887del	ENSP00000338554.5:p.Ser295_Ile296del
ENST00000517643.2:c.1692_1697del	ENSP00000513333.1:p.Ser565_Ile566del
ENST00000517698.6:c.*662_*667del	ENSP00000430424.1:n.*662_*667del
ENST00000521657.6:c.1692_1697del	ENSP00000429277.1:p.Ser565_Ile566del
ENST00000522084.6:c.882_887del	ENSP00000429766.2:p.Ser295_Ile296del
ENST00000697457.1:c.1617_1622del	ENSP00000513315.1:p.Ser540_Ile541del
ENST00000697458.1:c.1692_1697del	ENSP00000513316.1:p.Ser565_Ile566del
ENST00000697460.1:c.1167_1172del	ENSP00000513318.1:p.Ser390_Ile391del
ENST00000697461.1:c.1692_1697del	ENSP00000513319.1:p.Ser565_Ile566del
ENST00000697462.1:c.882_887del	ENSP00000513320.1:p.Ser295_Ile296del
ENST00000697463.1:n.1333_1338del
ENST00000697464.1:c.*658_*663del	ENSP00000513322.1:n.*658_*663del
ENST00000697465.1:c.729_734del	ENSP00000513323.1:p.Ser244_Ile245del
ENST00000697466.1:c.699_704del	ENSP00000513324.1:p.Ser234_Ile235del
ENST00000697467.1:c.603_608del	ENSP00000513325.1:p.Ser202_Ile203del
ENST00000697468.1:c.675_680del	ENSP00000513326.1:p.Ser226_Ile227del
ENST00000697469.1:c.384_389del	ENSP00000513327.1:p.Ser129_Ile130del
ENST00000697470.1:c.288_293del	ENSP00000513328.1:p.Ser97_Ile98del
ENST00000697557.1:c.675_680del	ENSP00000513335.1:p.Ser226_Ile227del
ENST00000521381.6:c.1692_1697del MANE Select	ENSP00000428056.1:p.Ser565_Ile566del
ENST00000320694.12:c.792_797del	ENSP00000323512.8:p.Ser265_Ile266del
ENST00000336483.9:c.882_887del	ENSP00000338554.5:p.Ser295_Ile296del
ENST00000517698.5:c.*662_*667del	ENSP00000430424.1:n.*662_*667del
ENST00000518813.5:n.2235_2240del
ENST00000520550.1:n.1091_1096del
ENST00000521381.5:c.1692_1697del	ENSP00000428056.1:p.Ser565_Ile566del
ENST00000521657.5:c.1692_1697del	ENSP00000429277.1:p.Ser565_Ile566del
ENST00000523872.1:c.603_608del	ENSP00000430098.1:p.Ser202_Ile203del
NM_001242466.1:c.603_608del	NP_001229395.1:p.Ser202_Ile203del
NM_181504.3:c.882_887del	NP_852556.2:p.Ser295_Ile296del
NM_181523.2:c.1692_1697del	NP_852664.1:p.Ser565_Ile566del
NM_181524.1:c.792_797del	NP_852665.1:p.Ser265_Ile266del
XM_005248542.2:c.1692_1697del	XP_005248599.1:p.Ser565_Ile566del
XM_011543493.1:c.1365_1370del	XP_011541795.1:p.Ser456_Ile457del
XM_005248542.3:c.1692_1697del	XP_005248599.1:p.Ser565_Ile566del
XM_011543493.3:c.1365_1370del	XP_011541795.1:p.Ser456_Ile457del
XM_017009585.2:c.1692_1697del	XP_016865074.1:p.Ser565_Ile566del
XM_017009586.1:c.1419_1424del	XP_016865075.1:p.Ser474_Ile475del
NM_181523.3:c.1692_1697del MANE Select	NP_852664.1:p.Ser565_Ile566del
NM_001242466.2:c.603_608del	NP_001229395.1:p.Ser202_Ile203del
NM_181504.4:c.882_887del	NP_852556.2:p.Ser295_Ile296del
NM_181524.2:c.792_797del	NP_852665.1:p.Ser265_Ile266del