Canonical Allele Identifier: CA930911261

Gene: PTEN

Linked Data

• dbSNP Id: rs1860799166
• gnomAD v3: 10-87967502-GACA-G
• gnomAD v4: 10-87967502-GACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87967505_87967507del , CM000672.2:g.87967505_87967507del	GRCh38
NC_000010.10:g.89727262_89727264del , CM000672.1:g.89727262_89727264del	GRCh37
NC_000010.9:g.89717242_89717244del	NCBI36
NG_007466.2:g.109067_109069del , LRG_311:g.109067_109069del

Transcript Alleles

HGVS	Amino-acid change
ENST00000710265.1:c.*2274_*2276del	ENSP00000518161.1:n.*2274_*2276del
ENST00000688158.2:n.3980_3982del
ENST00000706954.1:c.*2033_*2035del	ENSP00000516674.1:n.*2033_*2035del
ENST00000706955.1:c.*3280_*3282del	ENSP00000516675.1:n.*3280_*3282del
ENST00000688158.1:c.*3356_*3358del	ENSP00000509254.1:n.*3356_*3358del
ENST00000693560.1:c.*2033_*2035del	ENSP00000509861.1:n.*2033_*2035del
ENST00000371953.8:c.*2033_*2035del MANE Select	ENSP00000361021.3:n.*2033_*2035del
ENST00000371953.7:c.*2033_*2035del	ENSP00000361021.3:n.*2033_*2035del
NM_000314.5:c.*2033_*2035del	NP_000305.3:n.*2033_*2035del
NM_000314.6:c.*2033_*2035del	NP_000305.3:n.*2033_*2035del
NM_001304717.2:c.*2033_*2035del	NP_001291646.2:n.*2033_*2035del
NM_001304718.1:c.*2033_*2035del	NP_001291647.1:n.*2033_*2035del
XM_006717926.2:c.*2033_*2035del	XP_006717989.1:n.*2033_*2035del
XM_011539982.1:c.*2033_*2035del	XP_011538284.1:n.*2033_*2035del
XR_945791.1:n.3815_3817del
NM_000314.7:c.*2033_*2035del	NP_000305.3:n.*2033_*2035del
NM_001304717.5:c.*2033_*2035del	NP_001291646.4:n.*2033_*2035del
NM_001304718.2:c.*2033_*2035del	NP_001291647.1:n.*2033_*2035del
NM_000314.8:c.*2033_*2035del MANE Select	NP_000305.3:n.*2033_*2035del