Canonical Allele Identifier: CA10629391

Gene: PTEN

Linked Data

• ClinVar Variation Id: 301450
• ClinVar RCV Id: RCV000331667
• dbSNP Id: rs886047417
• gnomAD v2: 10-89726584-C-CA
• gnomAD v3: 10-87966827-C-CA
• gnomAD v4: 10-87966827-C-CA
• MyVariant Identifiers: chr10:g.89726592dupA (hg19) ; chr10:g.89726584_89726585insA (hg19) ; chr10:g.87966835dupA (hg38) ; chr10:g.87966827_87966828insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87966835dup , CM000672.2:g.87966835dup	GRCh38
NC_000010.10:g.89726592dup , CM000672.1:g.89726592dup	GRCh37
NC_000010.9:g.89716572dup	NCBI36
NG_007466.2:g.108397dup , LRG_311:g.108397dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.*1363dup	ENSP00000514759.2:n.*1363dup
ENST00000710265.1:c.*1604dup	ENSP00000518161.1:n.*1604dup
ENST00000688158.2:n.3310dup
ENST00000688922.2:c.*2405dup	ENSP00000508742.2:n.*2405dup
ENST00000700021.1:c.*1363dup	ENSP00000514757.1:n.*1363dup
ENST00000700024.1:n.3967dup
ENST00000706954.1:c.*1363dup	ENSP00000516674.1:n.*1363dup
ENST00000706955.1:c.*2610dup	ENSP00000516675.1:n.*2610dup
ENST00000688158.1:c.*2686dup	ENSP00000509254.1:n.*2686dup
ENST00000688308.1:c.*1363dup	ENSP00000508752.1:n.*1363dup
ENST00000688922.1:c.2496dup
ENST00000693560.1:c.*1363dup	ENSP00000509861.1:n.*1363dup
ENST00000371953.8:c.*1363dup MANE Select	ENSP00000361021.3:n.*1363dup
ENST00000371953.7:c.*1363dup	ENSP00000361021.3:n.*1363dup
NM_000314.5:c.*1363dup	NP_000305.3:n.*1363dup
NM_000314.6:c.*1363dup	NP_000305.3:n.*1363dup
NM_001304717.2:c.*1363dup	NP_001291646.2:n.*1363dup
NM_001304718.1:c.*1363dup	NP_001291647.1:n.*1363dup
XM_006717926.2:c.*1363dup	XP_006717989.1:n.*1363dup
XM_011539982.1:c.*1363dup	XP_011538284.1:n.*1363dup
XR_945791.1:n.3145dup
NM_000314.7:c.*1363dup	NP_000305.3:n.*1363dup
NM_001304717.5:c.*1363dup	NP_001291646.4:n.*1363dup
NM_001304718.2:c.*1363dup	NP_001291647.1:n.*1363dup
NM_000314.8:c.*1363dup MANE Select	NP_000305.3:n.*1363dup