Canonical Allele Identifier: CA2695200920

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2674408
• ClinVar RCV Id: RCV003452604

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952129_87952147del , CM000672.2:g.87952129_87952147del	GRCh38
NC_000010.10:g.89711886_89711904del , CM000672.1:g.89711886_89711904del	GRCh37
NC_000010.9:g.89701866_89701884del	NCBI36
NG_007466.2:g.93691_93709del , LRG_311:g.93691_93709del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.504_522del	ENSP00000514759.2:p.Ile168MetfsTer9
ENST00000710265.1:c.504_522del	ENSP00000518161.1:p.Ile168MetfsTer9
ENST00000472832.3:c.504_522del	ENSP00000483066.2:p.Ile168MetfsTer9
ENST00000688158.2:n.1239_1257del
ENST00000688922.2:c.*334_*352del	ENSP00000508742.2:n.*334_*352del
ENST00000700021.1:c.459_477del	ENSP00000514757.1:p.Ile153MetfsTer9
ENST00000700022.1:c.493-5724_493-5706del	ENSP00000514758.1:n.493-5724_493-5706del
ENST00000700023.1:n.1662_1680del
ENST00000700024.1:n.1896_1914del
ENST00000700025.1:n.1273_1291del
ENST00000700029.1:c.338_356del
ENST00000706954.1:c.504_522del	ENSP00000516674.1:p.Ile168MetfsTer9
ENST00000706955.1:c.*539_*557del	ENSP00000516675.1:n.*539_*557del
ENST00000686459.1:c.*90_*108del	ENSP00000508909.1:n.*90_*108del
ENST00000688158.1:c.*615_*633del	ENSP00000509254.1:n.*615_*633del
ENST00000688308.1:c.504_522del	ENSP00000508752.1:p.Ile168MetfsTer9
ENST00000688922.1:c.425_443del
ENST00000693560.1:c.1023_1041del	ENSP00000509861.1:p.Ile341MetfsTer9
ENST00000371953.8:c.504_522del MANE Select	ENSP00000361021.3:p.Ile168MetfsTer9
ENST00000371953.7:c.504_522del	ENSP00000361021.3:p.Ile168MetfsTer9
NM_000314.5:c.504_522del	NP_000305.3:p.Ile168MetfsTer9
NM_000314.6:c.504_522del	NP_000305.3:p.Ile168MetfsTer9
NM_001304717.2:c.1023_1041del	NP_001291646.2:p.Ile341MetfsTer9
NM_001304718.1:c.-88_-70del	NP_001291647.1:n.-88_-70del
XM_006717926.2:c.459_477del	XP_006717989.1:p.Ile153MetfsTer9
XM_011539981.1:c.504_522del	XP_011538283.1:p.Ile168MetfsTer9
XM_011539982.1:c.408_426del	XP_011538284.1:p.Ile136MetfsTer9
XR_945789.1:n.1375_1393del
XR_945790.1:n.1492_1510del
XR_945791.1:n.1205-5724_1205-5706del
NM_000314.7:c.504_522del	NP_000305.3:p.Ile168MetfsTer9
NM_001304717.5:c.1023_1041del	NP_001291646.4:p.Ile341MetfsTer9
NM_001304718.2:c.-88_-70del	NP_001291647.1:n.-88_-70del
NM_000314.8:c.504_522del MANE Select	NP_000305.3:p.Ile168MetfsTer9