Canonical Allele Identifier: CA560224433

Gene: PIK3R1

Linked Data

• gnomAD v2: 5-67548198-T-TAAA
• gnomAD v3: 5-68252370-T-TAAA
• gnomAD v4: 5-68252370-T-TAAA
• MyVariant Identifiers: chr5:g.67548198_67548199insAAA (hg19) ; chr5:g.68252370_68252371insAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68252371_68252372insAAA , CM000667.2:g.68252371_68252372insAAA	GRCh38
NC_000005.9:g.67548199_67548200insAAA , CM000667.1:g.67548199_67548200insAAA	GRCh37
NC_000005.8:g.67583955_67583956insAAA	NCBI36
NG_012849.2:g.41616_41617insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517412.2:n.935-21019_935-21018insAAA
ENST00000517643.2:c.335-21019_335-21018insAAA	ENSP00000513333.1:n.335-21019_335-21018insAAA
ENST00000521657.6:c.335-21019_335-21018insAAA	ENSP00000429277.1:n.335-21019_335-21018insAAA
ENST00000697457.1:c.335-21019_335-21018insAAA	ENSP00000513315.1:n.335-21019_335-21018insAAA
ENST00000697458.1:c.335-21019_335-21018insAAA	ENSP00000513316.1:n.335-21019_335-21018insAAA
ENST00000697460.1:c.-191-21019_-191-21018insAAA	ENSP00000513318.1:n.-191-21019_-191-21018insAAA
ENST00000697461.1:c.335-21019_335-21018insAAA	ENSP00000513319.1:n.335-21019_335-21018insAAA
ENST00000697556.1:c.335-21568_335-21567insAAA	ENSP00000513334.1:n.335-21568_335-21567insAAA
ENST00000521381.6:c.335-21019_335-21018insAAA MANE Select	ENSP00000428056.1:n.335-21019_335-21018insAAA
ENST00000517412.1:n.574-21019_574-21018insAAA
ENST00000520675.1:c.40+12434_40+12435insAAA	ENSP00000428566.1:n.40+12434_40+12435insAAA
ENST00000521381.5:c.335-21019_335-21018insAAA	ENSP00000428056.1:n.335-21019_335-21018insAAA
ENST00000521657.5:c.335-21019_335-21018insAAA	ENSP00000429277.1:n.335-21019_335-21018insAAA
NM_181523.2:c.335-21019_335-21018insAAA	NP_852664.1:n.335-21019_335-21018insAAA
XM_005248542.2:c.335-21019_335-21018insAAA	XP_005248599.1:n.335-21019_335-21018insAAA
XM_011543493.1:c.7+113_7+114insAAA	XP_011541795.1:n.7+113_7+114insAAA
XM_005248542.3:c.335-21019_335-21018insAAA	XP_005248599.1:n.335-21019_335-21018insAAA
XM_011543493.3:c.7+113_7+114insAAA	XP_011541795.1:n.7+113_7+114insAAA
XM_017009585.2:c.335-21019_335-21018insAAA	XP_016865074.1:n.335-21019_335-21018insAAA
XM_017009586.1:c.61+12434_61+12435insAAA	XP_016865075.1:n.61+12434_61+12435insAAA
NM_181523.3:c.335-21019_335-21018insAAA MANE Select	NP_852664.1:n.335-21019_335-21018insAAA