Canonical Allele Identifier: CA1926173048

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1018223
• ClinVar RCV Id: RCV001317492
• dbSNP Id: rs1860730253

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965215_87965288del , CM000672.2:g.87965215_87965288del	GRCh38
NC_000010.10:g.89724972_89725045del , CM000672.1:g.89724972_89725045del	GRCh37
NC_000010.9:g.89714952_89715025del	NCBI36
NG_007466.2:g.106777_106850del , LRG_311:g.106777_106850del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1120-72_1121del
ENST00000710265.1:c.*56-72_*57del
ENST00000688158.2:n.1762-72_1763del
ENST00000688922.2:c.*857-72_*858del
ENST00000700021.1:c.982-72_983del
ENST00000700022.1:c.*366-72_*367del
ENST00000700023.1:n.2185-72_2186del
ENST00000700024.1:n.2419-72_2420del
ENST00000706954.1:c.1027-72_1028del
ENST00000706955.1:c.*1062-72_*1063del
ENST00000686459.1:c.*613-72_*614del
ENST00000688158.1:c.*1138-72_*1139del
ENST00000688308.1:c.1027-72_1028del
ENST00000688922.1:c.948-72_949del
ENST00000693560.1:c.1546-72_1547del
ENST00000371953.8:c.1027-72_1028del
ENST00000371953.7:c.1027-72_1028del
NM_000314.5:c.1027-72_1028del
NM_000314.6:c.1027-72_1028del
NM_001304717.2:c.1546-72_1547del
NM_001304718.1:c.436-72_437del
XM_006717926.2:c.982-72_983del
XM_011539982.1:c.931-72_932del
XR_945791.1:n.1597-72_1598del
NM_000314.7:c.1027-72_1028del
NM_001304717.5:c.1546-72_1547del
NM_001304718.2:c.436-72_437del
NM_000314.8:c.1027-72_1028del