Canonical Allele Identifier: CA2512496718

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965369del , CM000672.2:g.87965369del	GRCh38
NC_000010.10:g.89725126del , CM000672.1:g.89725126del	GRCh37
NC_000010.9:g.89715106del	NCBI36
NG_007466.2:g.106931del , LRG_311:g.106931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1202del	ENSP00000514759.2:p.Ser401MetfsTer?
ENST00000710265.1:c.*138del	ENSP00000518161.1:n.*138del
ENST00000688158.2:n.1844del
ENST00000688922.2:c.*939del	ENSP00000508742.2:n.*939del
ENST00000700021.1:c.1064del	ENSP00000514757.1:p.Ser355MetfsTer?
ENST00000700022.1:c.*448del	ENSP00000514758.1:n.*448del
ENST00000700023.1:n.2267del
ENST00000700024.1:n.2501del
ENST00000706954.1:c.1109del	ENSP00000516674.1:p.Ser370MetfsTer?
ENST00000706955.1:c.*1144del	ENSP00000516675.1:n.*1144del
ENST00000686459.1:c.*695del	ENSP00000508909.1:n.*695del
ENST00000688158.1:c.*1220del	ENSP00000509254.1:n.*1220del
ENST00000688308.1:c.1109del	ENSP00000508752.1:p.Ser370MetfsTer?
ENST00000688922.1:c.1030del
ENST00000693560.1:c.1628del	ENSP00000509861.1:p.Ser543MetfsTer?
ENST00000371953.8:c.1109del MANE Select	ENSP00000361021.3:p.Ser370MetfsTer?
ENST00000371953.7:c.1109del	ENSP00000361021.3:p.Ser370MetfsTer?
NM_000314.5:c.1109del	NP_000305.3:p.Ser370MetfsTer?
NM_000314.6:c.1109del	NP_000305.3:p.Ser370MetfsTer?
NM_001304717.2:c.1628del	NP_001291646.2:p.Ser543MetfsTer?
NM_001304718.1:c.518del	NP_001291647.1:p.Ser173MetfsTer?
XM_006717926.2:c.1064del	XP_006717989.1:p.Ser355MetfsTer?
XM_011539982.1:c.1013del	XP_011538284.1:p.Ser338MetfsTer?
XR_945791.1:n.1679del
NM_000314.7:c.1109del	NP_000305.3:p.Ser370MetfsTer?
NM_001304717.5:c.1628del	NP_001291646.4:p.Ser543MetfsTer?
NM_001304718.2:c.518del	NP_001291647.1:p.Ser173MetfsTer?
NM_000314.8:c.1109del MANE Select	NP_000305.3:p.Ser370MetfsTer?