Canonical Allele Identifier: CA891834674

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2673895
• ClinVar RCV Id: RCV003450512

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960925_87960926delinsAA , CM000672.2:g.87960925_87960926delinsAA	GRCh38
NC_000010.10:g.89720682_89720683delinsAA , CM000672.1:g.89720682_89720683delinsAA	GRCh37
NC_000010.9:g.89710662_89710663delinsAA	NCBI36
NG_007466.2:g.102487_102488delinsAA , LRG_311:g.102487_102488delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.926_927delinsAA	ENSP00000514759.2:p.Phe309Ter
ENST00000710265.1:c.833_834delinsAA	ENSP00000518161.1:p.Phe278Ter
ENST00000472832.3:c.833_834delinsAA	ENSP00000483066.2:p.Phe278Ter
ENST00000688158.2:n.1568_1569delinsAA
ENST00000688922.2:c.*663_*664delinsAA	ENSP00000508742.2:n.*663_*664delinsAA
ENST00000700021.1:c.788_789delinsAA	ENSP00000514757.1:p.Phe263Ter
ENST00000700022.1:c.*172_*173delinsAA	ENSP00000514758.1:n.*172_*173delinsAA
ENST00000700023.1:n.1991_1992delinsAA
ENST00000700024.1:n.2225_2226delinsAA
ENST00000700025.1:n.1602_1603delinsAA
ENST00000700026.1:n.470_471delinsAA
ENST00000700029.1:c.760_761delinsAA
ENST00000706954.1:c.833_834delinsAA	ENSP00000516674.1:p.Phe278Ter
ENST00000706955.1:c.*868_*869delinsAA	ENSP00000516675.1:n.*868_*869delinsAA
ENST00000686459.1:c.*419_*420delinsAA	ENSP00000508909.1:n.*419_*420delinsAA
ENST00000688158.1:c.*944_*945delinsAA	ENSP00000509254.1:n.*944_*945delinsAA
ENST00000688308.1:c.833_834delinsAA	ENSP00000508752.1:p.Phe278Ter
ENST00000688922.1:c.754_755delinsAA
ENST00000693560.1:c.1352_1353delinsAA	ENSP00000509861.1:p.Phe451Ter
ENST00000371953.8:c.833_834delinsAA MANE Select	ENSP00000361021.3:p.Phe278Ter
ENST00000371953.7:c.833_834delinsAA	ENSP00000361021.3:p.Phe278Ter
ENST00000472832.2:c.260_261delinsAA	ENSP00000483066.1:p.Phe87Ter
NM_000314.5:c.833_834delinsAA	NP_000305.3:p.Phe278Ter
NM_000314.6:c.833_834delinsAA	NP_000305.3:p.Phe278Ter
NM_001304717.2:c.1352_1353delinsAA	NP_001291646.2:p.Phe451Ter
NM_001304718.1:c.242_243delinsAA	NP_001291647.1:p.Phe81Ter
XM_006717926.2:c.788_789delinsAA	XP_006717989.1:p.Phe263Ter
XM_011539981.1:c.833_834delinsAA	XP_011538283.1:p.Phe278Ter
XM_011539982.1:c.737_738delinsAA	XP_011538284.1:p.Phe246Ter
XR_945791.1:n.1403_1404delinsAA
NM_000314.7:c.833_834delinsAA	NP_000305.3:p.Phe278Ter
NM_001304717.5:c.1352_1353delinsAA	NP_001291646.4:p.Phe451Ter
NM_001304718.2:c.242_243delinsAA	NP_001291647.1:p.Phe81Ter
NM_000314.8:c.833_834delinsAA MANE Select	NP_000305.3:p.Phe278Ter