Canonical Allele Identifier: CA470670053

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1761635
• ClinVar RCV Id: RCV002419208 ; RCV003454208
• dbSNP Id: rs121913289
• COSMIC: COSM5012 ; COSM86078 ; COSM1638672
• MyVariant Identifiers: chr10:g.89717771_89717772insA (hg19) ; chr10:g.89717770_89717771insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958018dup , CM000672.2:g.87958018dup	GRCh38
NC_000010.10:g.89717775dup , CM000672.1:g.89717775dup	GRCh37
NC_000010.9:g.89707755dup	NCBI36
NG_007466.2:g.99580dup , LRG_311:g.99580dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.800dup	ENSP00000514759.2:p.Gln269ThrfsTer?
ENST00000710265.1:c.800dup	ENSP00000518161.1:p.Asp268GlyfsTer30
ENST00000472832.3:c.800dup	ENSP00000483066.2:p.Asp268GlyfsTer30
ENST00000688158.2:n.1535dup
ENST00000688922.2:c.*630dup	ENSP00000508742.2:n.*630dup
ENST00000700021.1:c.755dup	ENSP00000514757.1:p.Asp253GlyfsTer30
ENST00000700022.1:c.*139dup	ENSP00000514758.1:n.*139dup
ENST00000700023.1:n.1958dup
ENST00000700024.1:n.2192dup
ENST00000700025.1:n.1569dup
ENST00000700026.1:n.437dup
ENST00000700029.1:c.634dup
ENST00000706954.1:c.800dup	ENSP00000516674.1:p.Asp268GlyfsTer30
ENST00000706955.1:c.*835dup	ENSP00000516675.1:n.*835dup
ENST00000686459.1:c.*386dup	ENSP00000508909.1:n.*386dup
ENST00000688158.1:c.*911dup	ENSP00000509254.1:n.*911dup
ENST00000688308.1:c.800dup	ENSP00000508752.1:p.Asp268GlyfsTer30
ENST00000688922.1:c.721dup
ENST00000693560.1:c.1319dup	ENSP00000509861.1:p.Asp441GlyfsTer30
ENST00000371953.8:c.800dup MANE Select	ENSP00000361021.3:p.Asp268GlyfsTer30
ENST00000371953.7:c.800dup	ENSP00000361021.3:p.Asp268GlyfsTer30
ENST00000472832.2:c.227dup	ENSP00000483066.1:p.Asp77GlyfsTer30
NM_000314.5:c.800dup	NP_000305.3:p.Asp268GlyfsTer30
NM_000314.6:c.800dup	NP_000305.3:p.Asp268GlyfsTer30
NM_001304717.2:c.1319dup	NP_001291646.2:p.Asp441GlyfsTer30
NM_001304718.1:c.209dup	NP_001291647.1:p.Asp71GlyfsTer30
XM_006717926.2:c.755dup	XP_006717989.1:p.Asp253GlyfsTer30
XM_011539981.1:c.800dup	XP_011538283.1:p.Asp268GlyfsTer30
XM_011539982.1:c.704dup	XP_011538284.1:p.Asp236GlyfsTer30
XR_945791.1:n.1370dup
NM_000314.7:c.800dup	NP_000305.3:p.Asp268GlyfsTer30
NM_001304717.5:c.1319dup	NP_001291646.4:p.Asp441GlyfsTer30
NM_001304718.2:c.209dup	NP_001291647.1:p.Asp71GlyfsTer30
NM_000314.8:c.800dup MANE Select	NP_000305.3:p.Asp268GlyfsTer30