Canonical Allele Identifier: CA000504

Gene: PTEN

Linked Data

• ClinVar Variation Id: 135910
• ClinVar RCV Id: RCV001265677
• dbSNP Id: rs587780711
• gnomAD v4: 10-87952150-GTAT-G
• COSMIC: COSM4969 ; COSM249838
• MyVariant Identifiers: chr10:g.89711908_89711910del (hg19) ; chr10:g.87952151_87952153del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952157_87952159del , CM000672.2:g.87952157_87952159del	GRCh38
NC_000010.10:g.89711914_89711916del , CM000672.1:g.89711914_89711916del	GRCh37
NC_000010.9:g.89701894_89701896del	NCBI36
NG_007466.2:g.93719_93721del , LRG_311:g.93719_93721del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.532_534del	ENSP00000514759.2:p.Tyr178del
ENST00000710265.1:c.532_534del	ENSP00000518161.1:p.Tyr178del
ENST00000472832.3:c.532_534del	ENSP00000483066.2:p.Tyr178del
ENST00000688158.2:n.1267_1269del
ENST00000688922.2:c.*362_*364del	ENSP00000508742.2:n.*362_*364del
ENST00000700021.1:c.487_489del	ENSP00000514757.1:p.Tyr163del
ENST00000700022.1:c.493-5696_493-5694del	ENSP00000514758.1:n.493-5696_493-5694del
ENST00000700023.1:n.1690_1692del
ENST00000700024.1:n.1924_1926del
ENST00000700025.1:n.1301_1303del
ENST00000700029.1:c.366_368del
ENST00000706954.1:c.532_534del	ENSP00000516674.1:p.Tyr178del
ENST00000706955.1:c.*567_*569del	ENSP00000516675.1:n.*567_*569del
ENST00000686459.1:c.*118_*120del	ENSP00000508909.1:n.*118_*120del
ENST00000688158.1:c.*643_*645del	ENSP00000509254.1:n.*643_*645del
ENST00000688308.1:c.532_534del	ENSP00000508752.1:p.Tyr178del
ENST00000688922.1:c.453_455del
ENST00000693560.1:c.1051_1053del	ENSP00000509861.1:p.Tyr351del
ENST00000371953.8:c.532_534del MANE Select	ENSP00000361021.3:p.Tyr178del
ENST00000371953.7:c.532_534del	ENSP00000361021.3:p.Tyr178del
NM_000314.5:c.532_534del	NP_000305.3:p.Tyr178del
NM_000314.6:c.532_534del	NP_000305.3:p.Tyr178del
NM_001304717.2:c.1051_1053del	NP_001291646.2:p.Tyr351del
NM_001304718.1:c.-60_-58del	NP_001291647.1:n.-60_-58del
XM_006717926.2:c.487_489del	XP_006717989.1:p.Tyr163del
XM_011539981.1:c.532_534del	XP_011538283.1:p.Tyr178del
XM_011539982.1:c.436_438del	XP_011538284.1:p.Tyr146del
XR_945789.1:n.1403_1405del
XR_945790.1:n.1520_1522del
XR_945791.1:n.1205-5696_1205-5694del
NM_000314.7:c.532_534del	NP_000305.3:p.Tyr178del
NM_001304717.5:c.1051_1053del	NP_001291646.4:p.Tyr351del
NM_001304718.2:c.-60_-58del	NP_001291647.1:n.-60_-58del
NM_000314.8:c.532_534del MANE Select	NP_000305.3:p.Tyr178del