Canonical Allele Identifier: CA2573335053

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952141dup , CM000672.2:g.87952141dup	GRCh38
NC_000010.10:g.89711898dup , CM000672.1:g.89711898dup	GRCh37
NC_000010.9:g.89701878dup	NCBI36
NG_007466.2:g.93703dup , LRG_311:g.93703dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.516dup	ENSP00000514759.2:p.Arg173AlafsTer7
ENST00000710265.1:c.516dup	ENSP00000518161.1:p.Arg173AlafsTer7
ENST00000472832.3:c.516dup	ENSP00000483066.2:p.Arg173AlafsTer7
ENST00000688158.2:n.1251dup
ENST00000688922.2:c.*346dup	ENSP00000508742.2:n.*346dup
ENST00000700021.1:c.471dup	ENSP00000514757.1:p.Arg158AlafsTer7
ENST00000700022.1:c.493-5712dup	ENSP00000514758.1:n.493-5712dup
ENST00000700023.1:n.1674dup
ENST00000700024.1:n.1908dup
ENST00000700025.1:n.1285dup
ENST00000700029.1:c.350dup
ENST00000706954.1:c.516dup	ENSP00000516674.1:p.Arg173AlafsTer7
ENST00000706955.1:c.*551dup	ENSP00000516675.1:n.*551dup
ENST00000686459.1:c.*102dup	ENSP00000508909.1:n.*102dup
ENST00000688158.1:c.*627dup	ENSP00000509254.1:n.*627dup
ENST00000688308.1:c.516dup	ENSP00000508752.1:p.Arg173AlafsTer7
ENST00000688922.1:c.437dup
ENST00000693560.1:c.1035dup	ENSP00000509861.1:p.Arg346AlafsTer7
ENST00000371953.8:c.516dup MANE Select	ENSP00000361021.3:p.Arg173AlafsTer7
ENST00000371953.7:c.516dup	ENSP00000361021.3:p.Arg173AlafsTer7
NM_000314.5:c.516dup	NP_000305.3:p.Arg173AlafsTer7
NM_000314.6:c.516dup	NP_000305.3:p.Arg173AlafsTer7
NM_001304717.2:c.1035dup	NP_001291646.2:p.Arg346AlafsTer7
NM_001304718.1:c.-76dup	NP_001291647.1:n.-76dup
XM_006717926.2:c.471dup	XP_006717989.1:p.Arg158AlafsTer7
XM_011539981.1:c.516dup	XP_011538283.1:p.Arg173AlafsTer7
XM_011539982.1:c.420dup	XP_011538284.1:p.Arg141AlafsTer7
XR_945789.1:n.1387dup
XR_945790.1:n.1504dup
XR_945791.1:n.1205-5712dup
NM_000314.7:c.516dup	NP_000305.3:p.Arg173AlafsTer7
NM_001304717.5:c.1035dup	NP_001291646.4:p.Arg346AlafsTer7
NM_001304718.2:c.-76dup	NP_001291647.1:n.-76dup
NM_000314.8:c.516dup MANE Select	NP_000305.3:p.Arg173AlafsTer7