Canonical Allele Identifier: CA1926176696

Gene: PTEN

Linked Data

• dbSNP Id: rs1860797007
• gnomAD v3: 10-87967420-CTT-C
• gnomAD v4: 10-87967420-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87967421_87967422del , CM000672.2:g.87967421_87967422del	GRCh38
NC_000010.10:g.89727178_89727179del , CM000672.1:g.89727178_89727179del	GRCh37
NC_000010.9:g.89717158_89717159del	NCBI36
NG_007466.2:g.108983_108984del , LRG_311:g.108983_108984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710265.1:c.*2190_*2191del	ENSP00000518161.1:n.*2190_*2191del
ENST00000688158.2:n.3896_3897del
ENST00000706954.1:c.*1949_*1950del	ENSP00000516674.1:n.*1949_*1950del
ENST00000706955.1:c.*3196_*3197del	ENSP00000516675.1:n.*3196_*3197del
ENST00000688158.1:c.*3272_*3273del	ENSP00000509254.1:n.*3272_*3273del
ENST00000693560.1:c.*1949_*1950del	ENSP00000509861.1:n.*1949_*1950del
ENST00000371953.8:c.*1949_*1950del MANE Select	ENSP00000361021.3:n.*1949_*1950del
ENST00000371953.7:c.*1949_*1950del	ENSP00000361021.3:n.*1949_*1950del
NM_000314.5:c.*1949_*1950del	NP_000305.3:n.*1949_*1950del
NM_000314.6:c.*1949_*1950del	NP_000305.3:n.*1949_*1950del
NM_001304717.2:c.*1949_*1950del	NP_001291646.2:n.*1949_*1950del
NM_001304718.1:c.*1949_*1950del	NP_001291647.1:n.*1949_*1950del
XM_006717926.2:c.*1949_*1950del	XP_006717989.1:n.*1949_*1950del
XM_011539982.1:c.*1949_*1950del	XP_011538284.1:n.*1949_*1950del
XR_945791.1:n.3731_3732del
NM_000314.7:c.*1949_*1950del	NP_000305.3:n.*1949_*1950del
NM_001304717.5:c.*1949_*1950del	NP_001291646.4:n.*1949_*1950del
NM_001304718.2:c.*1949_*1950del	NP_001291647.1:n.*1949_*1950del
NM_000314.8:c.*1949_*1950del MANE Select	NP_000305.3:n.*1949_*1950del