Canonical Allele Identifier: CA891843013

Gene: PTEN

Linked Data

• ClinVar Variation Id: 582265
• ClinVar RCV Id: RCV000706300
• dbSNP Id: rs1564837778
• MyVariant Identifiers: chr10:g.89711896_89711897del (hg19) ; chr10:g.87952139_87952140del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952139_87952140del , CM000672.2:g.87952139_87952140del	GRCh38
NC_000010.10:g.89711896_89711897del , CM000672.1:g.89711896_89711897del	GRCh37
NC_000010.9:g.89701876_89701877del	NCBI36
NG_007466.2:g.93701_93702del , LRG_311:g.93701_93702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.514_515del	ENSP00000514759.2:p.Arg172AlafsTer7
ENST00000710265.1:c.514_515del	ENSP00000518161.1:p.Arg172AlafsTer7
ENST00000472832.3:c.514_515del	ENSP00000483066.2:p.Arg172AlafsTer7
ENST00000688158.2:n.1249_1250del
ENST00000688922.2:c.*344_*345del	ENSP00000508742.2:n.*344_*345del
ENST00000700021.1:c.469_470del	ENSP00000514757.1:p.Arg157AlafsTer7
ENST00000700022.1:c.493-5714_493-5713del	ENSP00000514758.1:n.493-5714_493-5713del
ENST00000700023.1:n.1672_1673del
ENST00000700024.1:n.1906_1907del
ENST00000700025.1:n.1283_1284del
ENST00000700029.1:c.348_349del
ENST00000706954.1:c.514_515del	ENSP00000516674.1:p.Arg172AlafsTer7
ENST00000706955.1:c.*549_*550del	ENSP00000516675.1:n.*549_*550del
ENST00000686459.1:c.*100_*101del	ENSP00000508909.1:n.*100_*101del
ENST00000688158.1:c.*625_*626del	ENSP00000509254.1:n.*625_*626del
ENST00000688308.1:c.514_515del	ENSP00000508752.1:p.Arg172AlafsTer7
ENST00000688922.1:c.435_436del
ENST00000693560.1:c.1033_1034del	ENSP00000509861.1:p.Arg345AlafsTer7
ENST00000371953.8:c.514_515del MANE Select	ENSP00000361021.3:p.Arg172AlafsTer7
ENST00000371953.7:c.514_515del	ENSP00000361021.3:p.Arg172AlafsTer7
NM_000314.5:c.514_515del	NP_000305.3:p.Arg172AlafsTer7
NM_000314.6:c.514_515del	NP_000305.3:p.Arg172AlafsTer7
NM_001304717.2:c.1033_1034del	NP_001291646.2:p.Arg345AlafsTer7
NM_001304718.1:c.-78_-77del	NP_001291647.1:n.-78_-77del
XM_006717926.2:c.469_470del	XP_006717989.1:p.Arg157AlafsTer7
XM_011539981.1:c.514_515del	XP_011538283.1:p.Arg172AlafsTer7
XM_011539982.1:c.418_419del	XP_011538284.1:p.Arg140AlafsTer7
XR_945789.1:n.1385_1386del
XR_945790.1:n.1502_1503del
XR_945791.1:n.1205-5714_1205-5713del
NM_000314.7:c.514_515del	NP_000305.3:p.Arg172AlafsTer7
NM_001304717.5:c.1033_1034del	NP_001291646.4:p.Arg345AlafsTer7
NM_001304718.2:c.-78_-77del	NP_001291647.1:n.-78_-77del
NM_000314.8:c.514_515del MANE Select	NP_000305.3:p.Arg172AlafsTer7