Canonical Allele Identifier: CA120632370

Gene: PIK3R1

Linked Data

• dbSNP Id: rs979936887
• gnomAD v2: 5-67548088-C-CAAGT
• gnomAD v3: 5-68252260-C-CAAGT
• gnomAD v4: 5-68252260-C-CAAGT
• MyVariant Identifiers: chr5:g.67548088_67548089insAAGT (hg19) ; chr5:g.68252260_68252261insAAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.68252262_68252265dup , CM000667.2:g.68252262_68252265dup	GRCh38
NC_000005.9:g.67548090_67548093dup , CM000667.1:g.67548090_67548093dup	GRCh37
NC_000005.8:g.67583846_67583849dup	NCBI36
NG_012849.2:g.41507_41510dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517412.2:n.935-21128_935-21125dup
ENST00000517643.2:c.335-21128_335-21125dup	ENSP00000513333.1:n.335-21128_335-21125dup
ENST00000521657.6:c.335-21128_335-21125dup	ENSP00000429277.1:n.335-21128_335-21125dup
ENST00000697457.1:c.335-21128_335-21125dup	ENSP00000513315.1:n.335-21128_335-21125dup
ENST00000697458.1:c.335-21128_335-21125dup	ENSP00000513316.1:n.335-21128_335-21125dup
ENST00000697460.1:c.-191-21128_-191-21125dup	ENSP00000513318.1:n.-191-21128_-191-21125dup
ENST00000697461.1:c.335-21128_335-21125dup	ENSP00000513319.1:n.335-21128_335-21125dup
ENST00000697556.1:c.335-21677_335-21674dup	ENSP00000513334.1:n.335-21677_335-21674dup
ENST00000521381.6:c.335-21128_335-21125dup MANE Select	ENSP00000428056.1:n.335-21128_335-21125dup
ENST00000517412.1:n.574-21128_574-21125dup
ENST00000520675.1:c.40+12325_40+12328dup	ENSP00000428566.1:n.40+12325_40+12328dup
ENST00000521381.5:c.335-21128_335-21125dup	ENSP00000428056.1:n.335-21128_335-21125dup
ENST00000521657.5:c.335-21128_335-21125dup	ENSP00000429277.1:n.335-21128_335-21125dup
NM_181523.2:c.335-21128_335-21125dup	NP_852664.1:n.335-21128_335-21125dup
XM_005248542.2:c.335-21128_335-21125dup	XP_005248599.1:n.335-21128_335-21125dup
XM_011543493.1:c.7+4_7+7dup	XP_011541795.1:n.7+4_7+7dup
XM_005248542.3:c.335-21128_335-21125dup	XP_005248599.1:n.335-21128_335-21125dup
XM_011543493.3:c.7+4_7+7dup	XP_011541795.1:n.7+4_7+7dup
XM_017009585.2:c.335-21128_335-21125dup	XP_016865074.1:n.335-21128_335-21125dup
XM_017009586.1:c.61+12325_61+12328dup	XP_016865075.1:n.61+12325_61+12328dup
NM_181523.3:c.335-21128_335-21125dup MANE Select	NP_852664.1:n.335-21128_335-21125dup