Canonical Allele Identifier: CA813423619

Gene: PIK3R1

Linked Data

• dbSNP Id: rs1483759799
• gnomAD v3: 5-68252380-A-AAT
• gnomAD v4: 5-68252380-A-AAT
• MyVariant Identifiers: chr5:g.67548208_67548209insAT (hg19) ; chr5:g.68252380_68252381insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68252381_68252382insTA , CM000667.2:g.68252381_68252382insTA	GRCh38
NC_000005.9:g.67548209_67548210insTA , CM000667.1:g.67548209_67548210insTA	GRCh37
NC_000005.8:g.67583965_67583966insTA	NCBI36
NG_012849.2:g.41626_41627insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517412.2:n.935-21009_935-21008insTA
ENST00000517643.2:c.335-21009_335-21008insTA	ENSP00000513333.1:n.335-21009_335-21008insTA
ENST00000521657.6:c.335-21009_335-21008insTA	ENSP00000429277.1:n.335-21009_335-21008insTA
ENST00000697457.1:c.335-21009_335-21008insTA	ENSP00000513315.1:n.335-21009_335-21008insTA
ENST00000697458.1:c.335-21009_335-21008insTA	ENSP00000513316.1:n.335-21009_335-21008insTA
ENST00000697460.1:c.-191-21009_-191-21008insTA	ENSP00000513318.1:n.-191-21009_-191-21008insTA
ENST00000697461.1:c.335-21009_335-21008insTA	ENSP00000513319.1:n.335-21009_335-21008insTA
ENST00000697556.1:c.335-21558_335-21557insTA	ENSP00000513334.1:n.335-21558_335-21557insTA
ENST00000521381.6:c.335-21009_335-21008insTA MANE Select	ENSP00000428056.1:n.335-21009_335-21008insTA
ENST00000517412.1:n.574-21009_574-21008insTA
ENST00000520675.1:c.40+12444_40+12445insTA	ENSP00000428566.1:n.40+12444_40+12445insTA
ENST00000521381.5:c.335-21009_335-21008insTA	ENSP00000428056.1:n.335-21009_335-21008insTA
ENST00000521657.5:c.335-21009_335-21008insTA	ENSP00000429277.1:n.335-21009_335-21008insTA
NM_181523.2:c.335-21009_335-21008insTA	NP_852664.1:n.335-21009_335-21008insTA
XM_005248542.2:c.335-21009_335-21008insTA	XP_005248599.1:n.335-21009_335-21008insTA
XM_011543493.1:c.7+123_7+124insTA	XP_011541795.1:n.7+123_7+124insTA
XM_005248542.3:c.335-21009_335-21008insTA	XP_005248599.1:n.335-21009_335-21008insTA
XM_011543493.3:c.7+123_7+124insTA	XP_011541795.1:n.7+123_7+124insTA
XM_017009585.2:c.335-21009_335-21008insTA	XP_016865074.1:n.335-21009_335-21008insTA
XM_017009586.1:c.61+12444_61+12445insTA	XP_016865075.1:n.61+12444_61+12445insTA
NM_181523.3:c.335-21009_335-21008insTA MANE Select	NP_852664.1:n.335-21009_335-21008insTA