Canonical Allele Identifier: CA560224275

Gene: PIK3R1

Linked Data

• dbSNP Id: rs1385897590
• gnomAD v2: 5-67546488-T-TG
• gnomAD v3: 5-68250660-T-TG
• gnomAD v4: 5-68250660-T-TG
• MyVariant Identifiers: chr5:g.67546488_67546489insG (hg19) ; chr5:g.68250660_68250661insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68250664dup , CM000667.2:g.68250664dup	GRCh38
NC_000005.9:g.67546492dup , CM000667.1:g.67546492dup	GRCh37
NC_000005.8:g.67582248dup	NCBI36
NG_012849.2:g.39909dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517412.2:n.935-22726dup
ENST00000517643.2:c.335-22726dup	ENSP00000513333.1:n.335-22726dup
ENST00000521657.6:c.335-22726dup	ENSP00000429277.1:n.335-22726dup
ENST00000697457.1:c.335-22726dup	ENSP00000513315.1:n.335-22726dup
ENST00000697458.1:c.335-22726dup	ENSP00000513316.1:n.335-22726dup
ENST00000697460.1:c.-192+22465dup	ENSP00000513318.1:n.-192+22465dup
ENST00000697461.1:c.335-22726dup	ENSP00000513319.1:n.335-22726dup
ENST00000697556.1:c.335-23275dup	ENSP00000513334.1:n.335-23275dup
ENST00000521381.6:c.335-22726dup MANE Select	ENSP00000428056.1:n.335-22726dup
ENST00000517412.1:n.574-22726dup
ENST00000520675.1:c.40+10727dup	ENSP00000428566.1:n.40+10727dup
ENST00000521381.5:c.335-22726dup	ENSP00000428056.1:n.335-22726dup
ENST00000521657.5:c.335-22726dup	ENSP00000429277.1:n.335-22726dup
NM_181523.2:c.335-22726dup	NP_852664.1:n.335-22726dup
XM_005248542.2:c.335-22726dup	XP_005248599.1:n.335-22726dup
XM_005248542.3:c.335-22726dup	XP_005248599.1:n.335-22726dup
XM_017009585.2:c.335-22726dup	XP_016865074.1:n.335-22726dup
XM_017009586.1:c.61+10727dup	XP_016865075.1:n.61+10727dup
NM_181523.3:c.335-22726dup MANE Select	NP_852664.1:n.335-22726dup