Canonical Allele Identifier: CA120632388

Gene: PIK3R1

Linked Data

• dbSNP Id: rs397949988
• gnomAD v3: 5-68252384-A-AAT
• gnomAD v4: 5-68252384-A-AAT
• MyVariant Identifiers: chr5:g.67548212_67548213insAT (hg19) ; chr5:g.68252384_68252385insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68252384_68252385insAT , CM000667.2:g.68252384_68252385insAT	GRCh38
NC_000005.9:g.67548212_67548213insAT , CM000667.1:g.67548212_67548213insAT	GRCh37
NC_000005.8:g.67583968_67583969insAT	NCBI36
NG_012849.2:g.41629_41630insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517412.2:n.935-21006_935-21005insAT
ENST00000517643.2:c.335-21006_335-21005insAT	ENSP00000513333.1:n.335-21006_335-21005insAT
ENST00000521657.6:c.335-21006_335-21005insAT	ENSP00000429277.1:n.335-21006_335-21005insAT
ENST00000697457.1:c.335-21006_335-21005insAT	ENSP00000513315.1:n.335-21006_335-21005insAT
ENST00000697458.1:c.335-21006_335-21005insAT	ENSP00000513316.1:n.335-21006_335-21005insAT
ENST00000697460.1:c.-191-21006_-191-21005insAT	ENSP00000513318.1:n.-191-21006_-191-21005insAT
ENST00000697461.1:c.335-21006_335-21005insAT	ENSP00000513319.1:n.335-21006_335-21005insAT
ENST00000697556.1:c.335-21555_335-21554insAT	ENSP00000513334.1:n.335-21555_335-21554insAT
ENST00000521381.6:c.335-21006_335-21005insAT MANE Select	ENSP00000428056.1:n.335-21006_335-21005insAT
ENST00000517412.1:n.574-21006_574-21005insAT
ENST00000520675.1:c.40+12447_40+12448insAT	ENSP00000428566.1:n.40+12447_40+12448insAT
ENST00000521381.5:c.335-21006_335-21005insAT	ENSP00000428056.1:n.335-21006_335-21005insAT
ENST00000521657.5:c.335-21006_335-21005insAT	ENSP00000429277.1:n.335-21006_335-21005insAT
NM_181523.2:c.335-21006_335-21005insAT	NP_852664.1:n.335-21006_335-21005insAT
XM_005248542.2:c.335-21006_335-21005insAT	XP_005248599.1:n.335-21006_335-21005insAT
XM_011543493.1:c.7+126_7+127insAT	XP_011541795.1:n.7+126_7+127insAT
XM_005248542.3:c.335-21006_335-21005insAT	XP_005248599.1:n.335-21006_335-21005insAT
XM_011543493.3:c.7+126_7+127insAT	XP_011541795.1:n.7+126_7+127insAT
XM_017009585.2:c.335-21006_335-21005insAT	XP_016865074.1:n.335-21006_335-21005insAT
XM_017009586.1:c.61+12447_61+12448insAT	XP_016865075.1:n.61+12447_61+12448insAT
NM_181523.3:c.335-21006_335-21005insAT MANE Select	NP_852664.1:n.335-21006_335-21005insAT