Canonical Allele Identifier: CA813423171

Gene: PIK3R1

Linked Data

• dbSNP Id: rs1168746940
• gnomAD v3: 5-68250828-CACT-C
• gnomAD v4: 5-68250828-CACT-C
• MyVariant Identifiers: chr5:g.67546657_67546659del (hg19) ; chr5:g.68250829_68250831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68250832_68250834del , CM000667.2:g.68250832_68250834del	GRCh38
NC_000005.9:g.67546660_67546662del , CM000667.1:g.67546660_67546662del	GRCh37
NC_000005.8:g.67582416_67582418del	NCBI36
NG_012849.2:g.40077_40079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517412.2:n.935-22558_935-22556del
ENST00000517643.2:c.335-22558_335-22556del	ENSP00000513333.1:n.335-22558_335-22556del
ENST00000521657.6:c.335-22558_335-22556del	ENSP00000429277.1:n.335-22558_335-22556del
ENST00000697457.1:c.335-22558_335-22556del	ENSP00000513315.1:n.335-22558_335-22556del
ENST00000697458.1:c.335-22558_335-22556del	ENSP00000513316.1:n.335-22558_335-22556del
ENST00000697460.1:c.-191-22558_-191-22556del	ENSP00000513318.1:n.-191-22558_-191-22556del
ENST00000697461.1:c.335-22558_335-22556del	ENSP00000513319.1:n.335-22558_335-22556del
ENST00000697556.1:c.335-23107_335-23105del	ENSP00000513334.1:n.335-23107_335-23105del
ENST00000521381.6:c.335-22558_335-22556del MANE Select	ENSP00000428056.1:n.335-22558_335-22556del
ENST00000517412.1:n.574-22558_574-22556del
ENST00000520675.1:c.40+10895_40+10897del	ENSP00000428566.1:n.40+10895_40+10897del
ENST00000521381.5:c.335-22558_335-22556del	ENSP00000428056.1:n.335-22558_335-22556del
ENST00000521657.5:c.335-22558_335-22556del	ENSP00000429277.1:n.335-22558_335-22556del
NM_181523.2:c.335-22558_335-22556del	NP_852664.1:n.335-22558_335-22556del
XM_005248542.2:c.335-22558_335-22556del	XP_005248599.1:n.335-22558_335-22556del
XM_005248542.3:c.335-22558_335-22556del	XP_005248599.1:n.335-22558_335-22556del
XM_017009585.2:c.335-22558_335-22556del	XP_016865074.1:n.335-22558_335-22556del
XM_017009586.1:c.61+10895_61+10897del	XP_016865075.1:n.61+10895_61+10897del
NM_181523.3:c.335-22558_335-22556del MANE Select	NP_852664.1:n.335-22558_335-22556del