Canonical Allele Identifier: CA2610050053

Gene: PTEN

Linked Data

• gnomAD v4: 10-87967938-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87967940dup , CM000672.2:g.87967940dup	GRCh38
NC_000010.10:g.89727697dup , CM000672.1:g.89727697dup	GRCh37
NC_000010.9:g.89717677dup	NCBI36
NG_007466.2:g.109502dup , LRG_311:g.109502dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710265.1:c.*2709dup	ENSP00000518161.1:n.*2709dup
ENST00000688158.2:n.4415dup
ENST00000706954.1:c.*2468dup	ENSP00000516674.1:n.*2468dup
ENST00000706955.1:c.*3715dup	ENSP00000516675.1:n.*3715dup
ENST00000688158.1:c.*3791dup	ENSP00000509254.1:n.*3791dup
ENST00000693560.1:c.*2468dup	ENSP00000509861.1:n.*2468dup
ENST00000371953.8:c.*2468dup MANE Select	ENSP00000361021.3:n.*2468dup
ENST00000371953.7:c.*2468dup	ENSP00000361021.3:n.*2468dup
NM_000314.5:c.*2468dup	NP_000305.3:n.*2468dup
NM_000314.6:c.*2468dup	NP_000305.3:n.*2468dup
NM_001304717.2:c.*2468dup	NP_001291646.2:n.*2468dup
NM_001304718.1:c.*2468dup	NP_001291647.1:n.*2468dup
XM_006717926.2:c.*2468dup	XP_006717989.1:n.*2468dup
XM_011539982.1:c.*2468dup	XP_011538284.1:n.*2468dup
XR_945791.1:n.4250dup
NM_000314.7:c.*2468dup	NP_000305.3:n.*2468dup
NM_001304717.5:c.*2468dup	NP_001291646.4:n.*2468dup
NM_001304718.2:c.*2468dup	NP_001291647.1:n.*2468dup
NM_000314.8:c.*2468dup MANE Select	NP_000305.3:n.*2468dup