Canonical Allele Identifier: CA813423643

Gene: PIK3R1

Linked Data

• dbSNP Id: rs1190182251
• gnomAD v3: 5-68252415-A-AGG
• gnomAD v4: 5-68252415-A-AGG
• MyVariant Identifiers: chr5:g.67548243_67548244insGG (hg19) ; chr5:g.68252415_68252416insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68252417_68252418dup , CM000667.2:g.68252417_68252418dup	GRCh38
NC_000005.9:g.67548245_67548246dup , CM000667.1:g.67548245_67548246dup	GRCh37
NC_000005.8:g.67584001_67584002dup	NCBI36
NG_012849.2:g.41662_41663dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517412.2:n.935-20973_935-20972dup
ENST00000517643.2:c.335-20973_335-20972dup	ENSP00000513333.1:n.335-20973_335-20972dup
ENST00000521657.6:c.335-20973_335-20972dup	ENSP00000429277.1:n.335-20973_335-20972dup
ENST00000697457.1:c.335-20973_335-20972dup	ENSP00000513315.1:n.335-20973_335-20972dup
ENST00000697458.1:c.335-20973_335-20972dup	ENSP00000513316.1:n.335-20973_335-20972dup
ENST00000697460.1:c.-191-20973_-191-20972dup	ENSP00000513318.1:n.-191-20973_-191-20972dup
ENST00000697461.1:c.335-20973_335-20972dup	ENSP00000513319.1:n.335-20973_335-20972dup
ENST00000697556.1:c.335-21522_335-21521dup	ENSP00000513334.1:n.335-21522_335-21521dup
ENST00000521381.6:c.335-20973_335-20972dup MANE Select	ENSP00000428056.1:n.335-20973_335-20972dup
ENST00000517412.1:n.574-20973_574-20972dup
ENST00000520675.1:c.40+12480_40+12481dup	ENSP00000428566.1:n.40+12480_40+12481dup
ENST00000521381.5:c.335-20973_335-20972dup	ENSP00000428056.1:n.335-20973_335-20972dup
ENST00000521657.5:c.335-20973_335-20972dup	ENSP00000429277.1:n.335-20973_335-20972dup
NM_181523.2:c.335-20973_335-20972dup	NP_852664.1:n.335-20973_335-20972dup
XM_005248542.2:c.335-20973_335-20972dup	XP_005248599.1:n.335-20973_335-20972dup
XM_011543493.1:c.7+159_7+160dup	XP_011541795.1:n.7+159_7+160dup
XM_005248542.3:c.335-20973_335-20972dup	XP_005248599.1:n.335-20973_335-20972dup
XM_011543493.3:c.7+159_7+160dup	XP_011541795.1:n.7+159_7+160dup
XM_017009585.2:c.335-20973_335-20972dup	XP_016865074.1:n.335-20973_335-20972dup
XM_017009586.1:c.61+12480_61+12481dup	XP_016865075.1:n.61+12480_61+12481dup
NM_181523.3:c.335-20973_335-20972dup MANE Select	NP_852664.1:n.335-20973_335-20972dup