Canonical Allele Identifier: CA594924217

Gene: PTEN

Linked Data

• dbSNP Id: rs1408956956
• gnomAD v2: 10-89727213-A-AT
• gnomAD v3: 10-87967456-A-AT
• gnomAD v4: 10-87967456-A-AT
• MyVariant Identifiers: chr10:g.89727213_89727214insT (hg19) ; chr10:g.87967456_87967457insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87967457dup , CM000672.2:g.87967457dup	GRCh38
NC_000010.10:g.89727214dup , CM000672.1:g.89727214dup	GRCh37
NC_000010.9:g.89717194dup	NCBI36
NG_007466.2:g.109019dup , LRG_311:g.109019dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710265.1:c.*2226dup	ENSP00000518161.1:n.*2226dup
ENST00000688158.2:n.3932dup
ENST00000706954.1:c.*1985dup	ENSP00000516674.1:n.*1985dup
ENST00000706955.1:c.*3232dup	ENSP00000516675.1:n.*3232dup
ENST00000688158.1:c.*3308dup	ENSP00000509254.1:n.*3308dup
ENST00000693560.1:c.*1985dup	ENSP00000509861.1:n.*1985dup
ENST00000371953.8:c.*1985dup MANE Select	ENSP00000361021.3:n.*1985dup
ENST00000371953.7:c.*1985dup	ENSP00000361021.3:n.*1985dup
NM_000314.5:c.*1985dup	NP_000305.3:n.*1985dup
NM_000314.6:c.*1985dup	NP_000305.3:n.*1985dup
NM_001304717.2:c.*1985dup	NP_001291646.2:n.*1985dup
NM_001304718.1:c.*1985dup	NP_001291647.1:n.*1985dup
XM_006717926.2:c.*1985dup	XP_006717989.1:n.*1985dup
XM_011539982.1:c.*1985dup	XP_011538284.1:n.*1985dup
XR_945791.1:n.3767dup
NM_000314.7:c.*1985dup	NP_000305.3:n.*1985dup
NM_001304717.5:c.*1985dup	NP_001291646.4:n.*1985dup
NM_001304718.2:c.*1985dup	NP_001291647.1:n.*1985dup
NM_000314.8:c.*1985dup MANE Select	NP_000305.3:n.*1985dup