Canonical Allele Identifier: CA2610049189

Gene: PTEN

Linked Data

• gnomAD v4: 10-87965390-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965391del , CM000672.2:g.87965391del	GRCh38
NC_000010.10:g.89725148del , CM000672.1:g.89725148del	GRCh37
NC_000010.9:g.89715128del	NCBI36
NG_007466.2:g.106953del , LRG_311:g.106953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1224del	ENSP00000514759.2:p.Tyr408Ter
ENST00000710265.1:c.*160del	ENSP00000518161.1:n.*160del
ENST00000688158.2:n.1866del
ENST00000688922.2:c.*961del	ENSP00000508742.2:n.*961del
ENST00000700021.1:c.1086del	ENSP00000514757.1:p.Tyr362Ter
ENST00000700022.1:c.*470del	ENSP00000514758.1:n.*470del
ENST00000700023.1:n.2289del
ENST00000700024.1:n.2523del
ENST00000706954.1:c.1131del	ENSP00000516674.1:p.Tyr377Ter
ENST00000706955.1:c.*1166del	ENSP00000516675.1:n.*1166del
ENST00000686459.1:c.*717del	ENSP00000508909.1:n.*717del
ENST00000688158.1:c.*1242del	ENSP00000509254.1:n.*1242del
ENST00000688308.1:c.1131del	ENSP00000508752.1:p.Tyr377Ter
ENST00000688922.1:c.1052del
ENST00000693560.1:c.1650del	ENSP00000509861.1:p.Tyr550Ter
ENST00000371953.8:c.1131del MANE Select	ENSP00000361021.3:p.Tyr377Ter
ENST00000371953.7:c.1131del	ENSP00000361021.3:p.Tyr377Ter
NM_000314.5:c.1131del	NP_000305.3:p.Tyr377Ter
NM_000314.6:c.1131del	NP_000305.3:p.Tyr377Ter
NM_001304717.2:c.1650del	NP_001291646.2:p.Tyr550Ter
NM_001304718.1:c.540del	NP_001291647.1:p.Tyr180Ter
XM_006717926.2:c.1086del	XP_006717989.1:p.Tyr362Ter
XM_011539982.1:c.1035del	XP_011538284.1:p.Tyr345Ter
XR_945791.1:n.1701del
NM_000314.7:c.1131del	NP_000305.3:p.Tyr377Ter
NM_001304717.5:c.1650del	NP_001291646.4:p.Tyr550Ter
NM_001304718.2:c.540del	NP_001291647.1:p.Tyr180Ter
NM_000314.8:c.1131del MANE Select	NP_000305.3:p.Tyr377Ter