Canonical Allele Identifier: CA645369489

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428217
• ClinVar RCV Id: RCV000491610
• dbSNP Id: rs1114167642

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952153_87952159delinsA , CM000672.2:g.87952153_87952159delinsA	GRCh38
NC_000010.10:g.89711910_89711916delinsA , CM000672.1:g.89711910_89711916delinsA	GRCh37
NC_000010.9:g.89701890_89701896delinsA	NCBI36
NG_007466.2:g.93715_93721delinsA , LRG_311:g.93715_93721delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.528_534delinsA	ENSP00000514759.2:p.Tyr176Ter
ENST00000710265.1:c.528_534delinsA	ENSP00000518161.1:p.Tyr176Ter
ENST00000472832.3:c.528_534delinsA	ENSP00000483066.2:p.Tyr176Ter
ENST00000688158.2:n.1263_1269delinsA
ENST00000688922.2:c.*358_*364delinsA	ENSP00000508742.2:n.*358_*364delinsA
ENST00000700021.1:c.483_489delinsA	ENSP00000514757.1:p.Tyr161Ter
ENST00000700022.1:c.493-5700_493-5694delinsA	ENSP00000514758.1:n.493-5700_493-5694deli...
ENST00000700023.1:n.1686_1692delinsA
ENST00000700024.1:n.1920_1926delinsA
ENST00000700025.1:n.1297_1303delinsA
ENST00000700029.1:c.362_368delinsA
ENST00000706954.1:c.528_534delinsA	ENSP00000516674.1:p.Tyr176Ter
ENST00000706955.1:c.*563_*569delinsA	ENSP00000516675.1:n.*563_*569delinsA
ENST00000686459.1:c.*114_*120delinsA	ENSP00000508909.1:n.*114_*120delinsA
ENST00000688158.1:c.*639_*645delinsA	ENSP00000509254.1:n.*639_*645delinsA
ENST00000688308.1:c.528_534delinsA	ENSP00000508752.1:p.Tyr176Ter
ENST00000688922.1:c.449_455delinsA
ENST00000693560.1:c.1047_1053delinsA	ENSP00000509861.1:p.Tyr349Ter
ENST00000371953.8:c.528_534delinsA MANE Select	ENSP00000361021.3:p.Tyr176Ter
ENST00000371953.7:c.528_534delinsA	ENSP00000361021.3:p.Tyr176Ter
NM_000314.5:c.528_534delinsA	NP_000305.3:p.Tyr176Ter
NM_000314.6:c.528_534delinsA	NP_000305.3:p.Tyr176Ter
NM_001304717.2:c.1047_1053delinsA	NP_001291646.2:p.Tyr349Ter
NM_001304718.1:c.-64_-58delinsA	NP_001291647.1:n.-64_-58delinsA
XM_006717926.2:c.483_489delinsA	XP_006717989.1:p.Tyr161Ter
XM_011539981.1:c.528_534delinsA	XP_011538283.1:p.Tyr176Ter
XM_011539982.1:c.432_438delinsA	XP_011538284.1:p.Tyr144Ter
XR_945789.1:n.1399_1405delinsA
XR_945790.1:n.1516_1522delinsA
XR_945791.1:n.1205-5700_1205-5694delinsA
NM_000314.7:c.528_534delinsA	NP_000305.3:p.Tyr176Ter
NM_001304717.5:c.1047_1053delinsA	NP_001291646.4:p.Tyr349Ter
NM_001304718.2:c.-64_-58delinsA	NP_001291647.1:n.-64_-58delinsA
NM_000314.8:c.528_534delinsA MANE Select	NP_000305.3:p.Tyr176Ter