Canonical Allele Identifier: CA645369469

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428274
• ClinVar RCV Id: RCV000491848 ; RCV000758230
• dbSNP Id: rs1114167680
• ERepo: CA645369469/MONDO:0017623/003

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960976_87960992delinsG , CM000672.2:g.87960976_87960992delinsG	GRCh38
NC_000010.10:g.89720733_89720749delinsG , CM000672.1:g.89720733_89720749delinsG	GRCh37
NC_000010.9:g.89710713_89710729delinsG	NCBI36
NG_007466.2:g.102538_102554delinsG , LRG_311:g.102538_102554delinsG

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.977_993delinsG	ENSP00000514759.2:p.Leu326ArgfsTer7
ENST00000710265.1:c.884_900delinsG	ENSP00000518161.1:p.Leu295ArgfsTer7
ENST00000472832.3:c.884_900delinsG	ENSP00000483066.2:p.Leu295ArgfsTer7
ENST00000688158.2:n.1619_1635delinsG
ENST00000688922.2:c.*714_*730delinsG	ENSP00000508742.2:n.*714_*730delinsG
ENST00000700021.1:c.839_855delinsG	ENSP00000514757.1:p.Leu280ArgfsTer7
ENST00000700022.1:c.*223_*239delinsG	ENSP00000514758.1:n.*223_*239delinsG
ENST00000700023.1:n.2042_2058delinsG
ENST00000700024.1:n.2276_2292delinsG
ENST00000700025.1:n.1653_1669delinsG
ENST00000700026.1:n.521_537delinsG
ENST00000706954.1:c.884_900delinsG	ENSP00000516674.1:p.Leu295ArgfsTer7
ENST00000706955.1:c.*919_*935delinsG	ENSP00000516675.1:n.*919_*935delinsG
ENST00000686459.1:c.*470_*486delinsG	ENSP00000508909.1:n.*470_*486delinsG
ENST00000688158.1:c.*995_*1011delinsG	ENSP00000509254.1:n.*995_*1011delinsG
ENST00000688308.1:c.884_900delinsG	ENSP00000508752.1:p.Leu295ArgfsTer7
ENST00000688922.1:c.805_821delinsG
ENST00000693560.1:c.1403_1419delinsG	ENSP00000509861.1:p.Leu468ArgfsTer7
ENST00000371953.8:c.884_900delinsG MANE Select	ENSP00000361021.3:p.Leu295ArgfsTer7
ENST00000371953.7:c.884_900delinsG	ENSP00000361021.3:p.Leu295ArgfsTer7
ENST00000472832.2:c.311_327delinsG	ENSP00000483066.1:p.Leu104ArgfsTer7
NM_000314.5:c.884_900delinsG	NP_000305.3:p.Leu295ArgfsTer7
NM_000314.6:c.884_900delinsG	NP_000305.3:p.Leu295ArgfsTer7
NM_001304717.2:c.1403_1419delinsG	NP_001291646.2:p.Leu468ArgfsTer7
NM_001304718.1:c.293_309delinsG	NP_001291647.1:p.Leu98ArgfsTer7
XM_006717926.2:c.839_855delinsG	XP_006717989.1:p.Leu280ArgfsTer7
XM_011539981.1:c.884_900delinsG	XP_011538283.1:p.Leu295ArgfsTer7
XM_011539982.1:c.788_804delinsG	XP_011538284.1:p.Leu263ArgfsTer7
XR_945791.1:n.1454_1470delinsG
NM_000314.7:c.884_900delinsG	NP_000305.3:p.Leu295ArgfsTer7
NM_001304717.5:c.1403_1419delinsG	NP_001291646.4:p.Leu468ArgfsTer7
NM_001304718.2:c.293_309delinsG	NP_001291647.1:p.Leu98ArgfsTer7
NM_000314.8:c.884_900delinsG MANE Select	NP_000305.3:p.Leu295ArgfsTer7