Canonical Allele Identifier: CA930924216

Gene: PTEN

Linked Data

• gnomAD v3: 10-87960901-TG-T
• gnomAD v4: 10-87960901-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960902del , CM000672.2:g.87960902del	GRCh38
NC_000010.10:g.89720659del , CM000672.1:g.89720659del	GRCh37
NC_000010.9:g.89710639del	NCBI36
NG_007466.2:g.102464del , LRG_311:g.102464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.903del	ENSP00000514759.2:p.Met301IlefsTer6
ENST00000710265.1:c.810del	ENSP00000518161.1:p.Met270IlefsTer6
ENST00000472832.3:c.810del	ENSP00000483066.2:p.Met270IlefsTer6
ENST00000688158.2:n.1545del
ENST00000688922.2:c.*640del	ENSP00000508742.2:n.*640del
ENST00000700021.1:c.765del	ENSP00000514757.1:p.Met255IlefsTer6
ENST00000700022.1:c.*149del	ENSP00000514758.1:n.*149del
ENST00000700023.1:n.1968del
ENST00000700024.1:n.2202del
ENST00000700025.1:n.1579del
ENST00000700026.1:n.447del
ENST00000700029.1:c.737del
ENST00000706954.1:c.810del	ENSP00000516674.1:p.Met270IlefsTer6
ENST00000706955.1:c.*845del	ENSP00000516675.1:n.*845del
ENST00000686459.1:c.*396del	ENSP00000508909.1:n.*396del
ENST00000688158.1:c.*921del	ENSP00000509254.1:n.*921del
ENST00000688308.1:c.810del	ENSP00000508752.1:p.Met270IlefsTer6
ENST00000688922.1:c.731del
ENST00000693560.1:c.1329del	ENSP00000509861.1:p.Met443IlefsTer6
ENST00000371953.8:c.810del MANE Select	ENSP00000361021.3:p.Met270IlefsTer6
ENST00000371953.7:c.810del	ENSP00000361021.3:p.Met270IlefsTer6
ENST00000472832.2:c.237del	ENSP00000483066.1:p.Met79IlefsTer6
NM_000314.5:c.810del	NP_000305.3:p.Met270IlefsTer6
NM_000314.6:c.810del	NP_000305.3:p.Met270IlefsTer6
NM_001304717.2:c.1329del	NP_001291646.2:p.Met443IlefsTer6
NM_001304718.1:c.219del	NP_001291647.1:p.Met73IlefsTer6
XM_006717926.2:c.765del	XP_006717989.1:p.Met255IlefsTer6
XM_011539981.1:c.810del	XP_011538283.1:p.Met270IlefsTer6
XM_011539982.1:c.714del	XP_011538284.1:p.Met238IlefsTer6
XR_945791.1:n.1380del
NM_000314.7:c.810del	NP_000305.3:p.Met270IlefsTer6
NM_001304717.5:c.1329del	NP_001291646.4:p.Met443IlefsTer6
NM_001304718.2:c.219del	NP_001291647.1:p.Met73IlefsTer6
NM_000314.8:c.810del MANE Select	NP_000305.3:p.Met270IlefsTer6