Canonical Allele Identifier: CA594924151

Gene: PTEN

Linked Data

• dbSNP Id: rs1302228040
• gnomAD v2: 10-89726595-CAT-C
• gnomAD v3: 10-87966838-CAT-C
• gnomAD v4: 10-87966838-CAT-C
• MyVariant Identifiers: chr10:g.89726596_89726597del (hg19) ; chr10:g.87966839_87966840del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87966839_87966840del , CM000672.2:g.87966839_87966840del	GRCh38
NC_000010.10:g.89726596_89726597del , CM000672.1:g.89726596_89726597del	GRCh37
NC_000010.9:g.89716576_89716577del	NCBI36
NG_007466.2:g.108401_108402del , LRG_311:g.108401_108402del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.*1367_*1368del	ENSP00000514759.2:n.*1367_*1368del
ENST00000710265.1:c.*1608_*1609del	ENSP00000518161.1:n.*1608_*1609del
ENST00000688158.2:n.3314_3315del
ENST00000688922.2:c.*2409_*2410del	ENSP00000508742.2:n.*2409_*2410del
ENST00000700021.1:c.*1367_*1368del	ENSP00000514757.1:n.*1367_*1368del
ENST00000700024.1:n.3971_3972del
ENST00000706954.1:c.*1367_*1368del	ENSP00000516674.1:n.*1367_*1368del
ENST00000706955.1:c.*2614_*2615del	ENSP00000516675.1:n.*2614_*2615del
ENST00000688158.1:c.*2690_*2691del	ENSP00000509254.1:n.*2690_*2691del
ENST00000688308.1:c.*1367_*1368del	ENSP00000508752.1:n.*1367_*1368del
ENST00000688922.1:c.2500_2501del
ENST00000693560.1:c.*1367_*1368del	ENSP00000509861.1:n.*1367_*1368del
ENST00000371953.8:c.*1367_*1368del MANE Select	ENSP00000361021.3:n.*1367_*1368del
ENST00000371953.7:c.*1367_*1368del	ENSP00000361021.3:n.*1367_*1368del
NM_000314.5:c.*1367_*1368del	NP_000305.3:n.*1367_*1368del
NM_000314.6:c.*1367_*1368del	NP_000305.3:n.*1367_*1368del
NM_001304717.2:c.*1367_*1368del	NP_001291646.2:n.*1367_*1368del
NM_001304718.1:c.*1367_*1368del	NP_001291647.1:n.*1367_*1368del
XM_006717926.2:c.*1367_*1368del	XP_006717989.1:n.*1367_*1368del
XM_011539982.1:c.*1367_*1368del	XP_011538284.1:n.*1367_*1368del
XR_945791.1:n.3149_3150del
NM_000314.7:c.*1367_*1368del	NP_000305.3:n.*1367_*1368del
NM_001304717.5:c.*1367_*1368del	NP_001291646.4:n.*1367_*1368del
NM_001304718.2:c.*1367_*1368del	NP_001291647.1:n.*1367_*1368del
NM_000314.8:c.*1367_*1368del MANE Select	NP_000305.3:n.*1367_*1368del