Canonical Allele Identifier: CA000509

Gene: PTEN

Linked Data

• ClinVar Variation Id: 7824
• ClinVar RCV Id: RCV000008270 ; RCV000735260
• dbSNP Id: rs397515374
• MyVariant Identifiers: chr10:g.89711916_89711917delinsAT (hg19) ; chr10:g.87952159_87952160delinsAT (hg38)
• PubMed: PMID:9832032
• ERepo: CA000509/MONDO:0017623/003

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952159_87952160delinsAT , CM000672.2:g.87952159_87952160delinsAT	GRCh38
NC_000010.10:g.89711916_89711917delinsAT , CM000672.1:g.89711916_89711917delinsAT	GRCh37
NC_000010.9:g.89701896_89701897delinsAT	NCBI36
NG_007466.2:g.93721_93722delinsAT , LRG_311:g.93721_93722delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.534_535delinsAT	ENSP00000514759.2:p.Tyr178Ter
ENST00000710265.1:c.534_535delinsAT	ENSP00000518161.1:p.Tyr178Ter
ENST00000472832.3:c.534_535delinsAT	ENSP00000483066.2:p.Tyr178Ter
ENST00000688158.2:n.1269_1270delinsAT
ENST00000688922.2:c.*364_*365delinsAT	ENSP00000508742.2:n.*364_*365delinsAT
ENST00000700021.1:c.489_490delinsAT	ENSP00000514757.1:p.Tyr163Ter
ENST00000700022.1:c.493-5694_493-5693delinsAT	ENSP00000514758.1:n.493-5694_493-5693deli...
ENST00000700023.1:n.1692_1693delinsAT
ENST00000700024.1:n.1926_1927delinsAT
ENST00000700025.1:n.1303_1304delinsAT
ENST00000700029.1:c.368_369delinsAT
ENST00000706954.1:c.534_535delinsAT	ENSP00000516674.1:p.Tyr178Ter
ENST00000706955.1:c.*569_*570delinsAT	ENSP00000516675.1:n.*569_*570delinsAT
ENST00000686459.1:c.*120_*121delinsAT	ENSP00000508909.1:n.*120_*121delinsAT
ENST00000688158.1:c.*645_*646delinsAT	ENSP00000509254.1:n.*645_*646delinsAT
ENST00000688308.1:c.534_535delinsAT	ENSP00000508752.1:p.Tyr178Ter
ENST00000688922.1:c.455_456delinsAT
ENST00000693560.1:c.1053_1054delinsAT	ENSP00000509861.1:p.Tyr351Ter
ENST00000371953.8:c.534_535delinsAT MANE Select	ENSP00000361021.3:p.Tyr178Ter
ENST00000371953.7:c.534_535delinsAT	ENSP00000361021.3:p.Tyr178Ter
NM_000314.5:c.534_535delinsAT	NP_000305.3:p.Tyr178Ter
NM_000314.6:c.534_535delinsAT	NP_000305.3:p.Tyr178Ter
NM_001304717.2:c.1053_1054delinsAT	NP_001291646.2:p.Tyr351Ter
NM_001304718.1:c.-58_-57delinsAT	NP_001291647.1:n.-58_-57delinsAT
XM_006717926.2:c.489_490delinsAT	XP_006717989.1:p.Tyr163Ter
XM_011539981.1:c.534_535delinsAT	XP_011538283.1:p.Tyr178Ter
XM_011539982.1:c.438_439delinsAT	XP_011538284.1:p.Tyr146Ter
XR_945789.1:n.1405_1406delinsAT
XR_945790.1:n.1522_1523delinsAT
XR_945791.1:n.1205-5694_1205-5693delinsAT
NM_000314.7:c.534_535delinsAT	NP_000305.3:p.Tyr178Ter
NM_001304717.5:c.1053_1054delinsAT	NP_001291646.4:p.Tyr351Ter
NM_001304718.2:c.-58_-57delinsAT	NP_001291647.1:n.-58_-57delinsAT
NM_000314.8:c.534_535delinsAT MANE Select	NP_000305.3:p.Tyr178Ter