Canonical Allele Identifier: CA470974070

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2673910
• ClinVar RCV Id: RCV003450526
• MyVariant Identifiers: chr10:g.89720818del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961061del , CM000672.2:g.87961061del	GRCh38
NC_000010.10:g.89720818del , CM000672.1:g.89720818del	GRCh37
NC_000010.9:g.89710798del	NCBI36
NG_007466.2:g.102623del , LRG_311:g.102623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1062del	ENSP00000514759.2:p.Asn354LysfsTer21
ENST00000710265.1:c.969del	ENSP00000518161.1:p.Asn323LysfsTer24
ENST00000472832.3:c.969del	ENSP00000483066.2:p.Asn323LysfsTer?
ENST00000688158.2:n.1704del
ENST00000688922.2:c.*799del	ENSP00000508742.2:n.*799del
ENST00000700021.1:c.924del	ENSP00000514757.1:p.Asn308LysfsTer21
ENST00000700022.1:c.*308del	ENSP00000514758.1:n.*308del
ENST00000700023.1:n.2127del
ENST00000700024.1:n.2361del
ENST00000700025.1:n.1738del
ENST00000700026.1:n.606del
ENST00000706954.1:c.969del	ENSP00000516674.1:p.Asn323LysfsTer21
ENST00000706955.1:c.*1004del	ENSP00000516675.1:n.*1004del
ENST00000686459.1:c.*555del	ENSP00000508909.1:n.*555del
ENST00000688158.1:c.*1080del	ENSP00000509254.1:n.*1080del
ENST00000688308.1:c.969del	ENSP00000508752.1:p.Asn323LysfsTer21
ENST00000688922.1:c.890del
ENST00000693560.1:c.1488del	ENSP00000509861.1:p.Asn496LysfsTer21
ENST00000371953.8:c.969del MANE Select	ENSP00000361021.3:p.Asn323LysfsTer21
ENST00000371953.7:c.969del	ENSP00000361021.3:p.Asn323LysfsTer21
ENST00000472832.2:c.396del	ENSP00000483066.1:p.Asn132LysfsTer?
NM_000314.5:c.969del	NP_000305.3:p.Asn323LysfsTer21
NM_000314.6:c.969del	NP_000305.3:p.Asn323LysfsTer21
NM_001304717.2:c.1488del	NP_001291646.2:p.Asn496LysfsTer21
NM_001304718.1:c.378del	NP_001291647.1:p.Asn126LysfsTer21
XM_006717926.2:c.924del	XP_006717989.1:p.Asn308LysfsTer21
XM_011539981.1:c.969del	XP_011538283.1:p.Asn323LysfsTer24
XM_011539982.1:c.873del	XP_011538284.1:p.Asn291LysfsTer21
XR_945791.1:n.1539del
NM_000314.7:c.969del	NP_000305.3:p.Asn323LysfsTer21
NM_001304717.5:c.1488del	NP_001291646.4:p.Asn496LysfsTer21
NM_001304718.2:c.378del	NP_001291647.1:p.Asn126LysfsTer21
NM_000314.8:c.969del MANE Select	NP_000305.3:p.Asn323LysfsTer21