Canonical Allele Identifier: CA1077129294

Gene: PIK3R1

Linked Data

• dbSNP Id: rs1745263781
• gnomAD v3: 5-68250473-CATATA-C
• gnomAD v4: 5-68250473-CATATA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68250477_68250481del , CM000667.2:g.68250477_68250481del	GRCh38
NC_000005.9:g.67546305_67546309del , CM000667.1:g.67546305_67546309del	GRCh37
NC_000005.8:g.67582061_67582065del	NCBI36
NG_012849.2:g.39722_39726del

Transcript Alleles

HGVS	Amino-acid change
ENST00000517412.2:n.935-22913_935-22909del
ENST00000517643.2:c.335-22913_335-22909del	ENSP00000513333.1:n.335-22913_335-22909de...
ENST00000521657.6:c.335-22913_335-22909del	ENSP00000429277.1:n.335-22913_335-22909de...
ENST00000697457.1:c.335-22913_335-22909del	ENSP00000513315.1:n.335-22913_335-22909de...
ENST00000697458.1:c.335-22913_335-22909del	ENSP00000513316.1:n.335-22913_335-22909de...
ENST00000697460.1:c.-192+22278_-192+22282del	ENSP00000513318.1:n.-192+22278_-192+22282...
ENST00000697461.1:c.335-22913_335-22909del	ENSP00000513319.1:n.335-22913_335-22909de...
ENST00000697556.1:c.335-23462_335-23458del	ENSP00000513334.1:n.335-23462_335-23458de...
ENST00000521381.6:c.335-22913_335-22909del MANE Select	ENSP00000428056.1:n.335-22913_335-22909de...
ENST00000517412.1:n.574-22913_574-22909del
ENST00000520675.1:c.40+10540_40+10544del	ENSP00000428566.1:n.40+10540_40+10544del
ENST00000521381.5:c.335-22913_335-22909del	ENSP00000428056.1:n.335-22913_335-22909de...
ENST00000521657.5:c.335-22913_335-22909del	ENSP00000429277.1:n.335-22913_335-22909de...
NM_181523.2:c.335-22913_335-22909del	NP_852664.1:n.335-22913_335-22909del
XM_005248542.2:c.335-22913_335-22909del	XP_005248599.1:n.335-22913_335-22909del
XM_005248542.3:c.335-22913_335-22909del	XP_005248599.1:n.335-22913_335-22909del
XM_017009585.2:c.335-22913_335-22909del	XP_016865074.1:n.335-22913_335-22909del
XM_017009586.1:c.61+10540_61+10544del	XP_016865075.1:n.61+10540_61+10544del
NM_181523.3:c.335-22913_335-22909del MANE Select	NP_852664.1:n.335-22913_335-22909del