Canonical Allele Identifier: CA120632392

Gene: PIK3R1

Linked Data

• dbSNP Id: rs768378256
• gnomAD v2: 5-67548214-TGGG-T
• gnomAD v3: 5-68252386-TGGG-T
• gnomAD v4: 5-68252386-TGGG-T
• MyVariant Identifiers: chr5:g.67548215_67548217del (hg19) ; chr5:g.68252387_68252389del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68252390_68252392del , CM000667.2:g.68252390_68252392del	GRCh38
NC_000005.9:g.67548218_67548220del , CM000667.1:g.67548218_67548220del	GRCh37
NC_000005.8:g.67583974_67583976del	NCBI36
NG_012849.2:g.41635_41637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517412.2:n.935-21000_935-20998del
ENST00000517643.2:c.335-21000_335-20998del	ENSP00000513333.1:n.335-21000_335-20998del
ENST00000521657.6:c.335-21000_335-20998del	ENSP00000429277.1:n.335-21000_335-20998del
ENST00000697457.1:c.335-21000_335-20998del	ENSP00000513315.1:n.335-21000_335-20998del
ENST00000697458.1:c.335-21000_335-20998del	ENSP00000513316.1:n.335-21000_335-20998del
ENST00000697460.1:c.-191-21000_-191-20998del	ENSP00000513318.1:n.-191-21000_-191-20998del
ENST00000697461.1:c.335-21000_335-20998del	ENSP00000513319.1:n.335-21000_335-20998del
ENST00000697556.1:c.335-21549_335-21547del	ENSP00000513334.1:n.335-21549_335-21547del
ENST00000521381.6:c.335-21000_335-20998del MANE Select	ENSP00000428056.1:n.335-21000_335-20998del
ENST00000517412.1:n.574-21000_574-20998del
ENST00000520675.1:c.40+12453_40+12455del	ENSP00000428566.1:n.40+12453_40+12455del
ENST00000521381.5:c.335-21000_335-20998del	ENSP00000428056.1:n.335-21000_335-20998del
ENST00000521657.5:c.335-21000_335-20998del	ENSP00000429277.1:n.335-21000_335-20998del
NM_181523.2:c.335-21000_335-20998del	NP_852664.1:n.335-21000_335-20998del
XM_005248542.2:c.335-21000_335-20998del	XP_005248599.1:n.335-21000_335-20998del
XM_011543493.1:c.7+132_7+134del	XP_011541795.1:n.7+132_7+134del
XM_005248542.3:c.335-21000_335-20998del	XP_005248599.1:n.335-21000_335-20998del
XM_011543493.3:c.7+132_7+134del	XP_011541795.1:n.7+132_7+134del
XM_017009585.2:c.335-21000_335-20998del	XP_016865074.1:n.335-21000_335-20998del
XM_017009586.1:c.61+12453_61+12455del	XP_016865075.1:n.61+12453_61+12455del
NM_181523.3:c.335-21000_335-20998del MANE Select	NP_852664.1:n.335-21000_335-20998del