Canonical Allele Identifier: CA930910555

Gene: PTEN

Linked Data

• dbSNP Id: rs1860776319
• gnomAD v3: 10-87966889-T-TTGAAA
• gnomAD v4: 10-87966889-T-TTGAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87966890_87966894dup , CM000672.2:g.87966890_87966894dup	GRCh38
NC_000010.10:g.89726647_89726651dup , CM000672.1:g.89726647_89726651dup	GRCh37
NC_000010.9:g.89716627_89716631dup	NCBI36
NG_007466.2:g.108452_108456dup , LRG_311:g.108452_108456dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000710265.1:c.*1659_*1663dup	ENSP00000518161.1:n.*1659_*1663dup
ENST00000688158.2:n.3365_3369dup
ENST00000706954.1:c.*1418_*1422dup	ENSP00000516674.1:n.*1418_*1422dup
ENST00000706955.1:c.*2665_*2669dup	ENSP00000516675.1:n.*2665_*2669dup
ENST00000688158.1:c.*2741_*2745dup	ENSP00000509254.1:n.*2741_*2745dup
ENST00000693560.1:c.*1418_*1422dup	ENSP00000509861.1:n.*1418_*1422dup
ENST00000371953.8:c.*1418_*1422dup MANE Select	ENSP00000361021.3:n.*1418_*1422dup
ENST00000371953.7:c.*1418_*1422dup	ENSP00000361021.3:n.*1418_*1422dup
NM_000314.5:c.*1418_*1422dup	NP_000305.3:n.*1418_*1422dup
NM_000314.6:c.*1418_*1422dup	NP_000305.3:n.*1418_*1422dup
NM_001304717.2:c.*1418_*1422dup	NP_001291646.2:n.*1418_*1422dup
NM_001304718.1:c.*1418_*1422dup	NP_001291647.1:n.*1418_*1422dup
XM_006717926.2:c.*1418_*1422dup	XP_006717989.1:n.*1418_*1422dup
XM_011539982.1:c.*1418_*1422dup	XP_011538284.1:n.*1418_*1422dup
XR_945791.1:n.3200_3204dup
NM_000314.7:c.*1418_*1422dup	NP_000305.3:n.*1418_*1422dup
NM_001304717.5:c.*1418_*1422dup	NP_001291646.4:n.*1418_*1422dup
NM_001304718.2:c.*1418_*1422dup	NP_001291647.1:n.*1418_*1422dup
NM_000314.8:c.*1418_*1422dup MANE Select	NP_000305.3:n.*1418_*1422dup