Canonical Allele Identifier: CA10629411

Gene: PTEN

Linked Data

• ClinVar Variation Id: 301488
• ClinVar RCV Id: RCV000270563
• dbSNP Id: rs886047439
• gnomAD v2: 10-89727632-ATATATAT-A
• gnomAD v3: 10-87967875-ATATATAT-A
• gnomAD v4: 10-87967875-ATATATAT-A
• MyVariant Identifiers: chr10:g.89727637_89727643del (hg19) ; chr10:g.89727633_89727639del (hg19) ; chr10:g.87967880_87967886del (hg38) ; chr10:g.87967876_87967882del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87967880_87967886del , CM000672.2:g.87967880_87967886del	GRCh38
NC_000010.10:g.89727637_89727643del , CM000672.1:g.89727637_89727643del	GRCh37
NC_000010.9:g.89717617_89717623del	NCBI36
NG_007466.2:g.109442_109448del , LRG_311:g.109442_109448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710265.1:c.*2649_*2655del	ENSP00000518161.1:n.*2649_*2655del
ENST00000688158.2:n.4355_4361del
ENST00000706954.1:c.*2408_*2414del	ENSP00000516674.1:n.*2408_*2414del
ENST00000706955.1:c.*3655_*3661del	ENSP00000516675.1:n.*3655_*3661del
ENST00000688158.1:c.*3731_*3737del	ENSP00000509254.1:n.*3731_*3737del
ENST00000693560.1:c.*2408_*2414del	ENSP00000509861.1:n.*2408_*2414del
ENST00000371953.8:c.*2408_*2414del MANE Select	ENSP00000361021.3:n.*2408_*2414del
ENST00000371953.7:c.*2408_*2414del	ENSP00000361021.3:n.*2408_*2414del
NM_000314.5:c.*2408_*2414del	NP_000305.3:n.*2408_*2414del
NM_000314.6:c.*2408_*2414del	NP_000305.3:n.*2408_*2414del
NM_001304717.2:c.*2408_*2414del	NP_001291646.2:n.*2408_*2414del
NM_001304718.1:c.*2408_*2414del	NP_001291647.1:n.*2408_*2414del
XM_006717926.2:c.*2408_*2414del	XP_006717989.1:n.*2408_*2414del
XM_011539982.1:c.*2408_*2414del	XP_011538284.1:n.*2408_*2414del
XR_945791.1:n.4190_4196del
NM_000314.7:c.*2408_*2414del	NP_000305.3:n.*2408_*2414del
NM_001304717.5:c.*2408_*2414del	NP_001291646.4:n.*2408_*2414del
NM_001304718.2:c.*2408_*2414del	NP_001291647.1:n.*2408_*2414del
NM_000314.8:c.*2408_*2414del MANE Select	NP_000305.3:n.*2408_*2414del