Canonical Allele Identifier: CA2697558637

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2718902
• ClinVar RCV Id: RCV003511009

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957959_87957960insGGA , CM000672.2:g.87957959_87957960insGGA	GRCh38
NC_000010.10:g.89717716_89717717insGGA , CM000672.1:g.89717716_89717717insGGA	GRCh37
NC_000010.9:g.89707696_89707697insGGA	NCBI36
NG_007466.2:g.99521_99522insGGA , LRG_311:g.99521_99522insGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.741_742insGGA	ENSP00000514759.2:p.Leu247_Pro248insGly
ENST00000710265.1:c.741_742insGGA	ENSP00000518161.1:p.Leu247_Pro248insGly
ENST00000472832.3:c.741_742insGGA	ENSP00000483066.2:p.Leu247_Pro248insGly
ENST00000688158.2:n.1476_1477insGGA
ENST00000688922.2:c.*571_*572insGGA	ENSP00000508742.2:n.*571_*572insGGA
ENST00000700021.1:c.696_697insGGA	ENSP00000514757.1:p.Leu232_Pro233insGly
ENST00000700022.1:c.*80_*81insGGA	ENSP00000514758.1:n.*80_*81insGGA
ENST00000700023.1:n.1899_1900insGGA
ENST00000700024.1:n.2133_2134insGGA
ENST00000700025.1:n.1510_1511insGGA
ENST00000700026.1:n.378_379insGGA
ENST00000700029.1:c.575_576insGGA
ENST00000706954.1:c.741_742insGGA	ENSP00000516674.1:p.Leu247_Pro248insGly
ENST00000706955.1:c.*776_*777insGGA	ENSP00000516675.1:n.*776_*777insGGA
ENST00000686459.1:c.*327_*328insGGA	ENSP00000508909.1:n.*327_*328insGGA
ENST00000688158.1:c.*852_*853insGGA	ENSP00000509254.1:n.*852_*853insGGA
ENST00000688308.1:c.741_742insGGA	ENSP00000508752.1:p.Leu247_Pro248insGly
ENST00000688922.1:c.662_663insGGA
ENST00000693560.1:c.1260_1261insGGA	ENSP00000509861.1:p.Leu420_Pro421insGly
ENST00000371953.8:c.741_742insGGA MANE Select	ENSP00000361021.3:p.Leu247_Pro248insGly
ENST00000371953.7:c.741_742insGGA	ENSP00000361021.3:p.Leu247_Pro248insGly
ENST00000472832.2:c.168_169insGGA	ENSP00000483066.1:p.Leu56_Pro57insGly
NM_000314.5:c.741_742insGGA	NP_000305.3:p.Leu247_Pro248insGly
NM_000314.6:c.741_742insGGA	NP_000305.3:p.Leu247_Pro248insGly
NM_001304717.2:c.1260_1261insGGA	NP_001291646.2:p.Leu420_Pro421insGly
NM_001304718.1:c.150_151insGGA	NP_001291647.1:p.Leu50_Pro51insGly
XM_006717926.2:c.696_697insGGA	XP_006717989.1:p.Leu232_Pro233insGly
XM_011539981.1:c.741_742insGGA	XP_011538283.1:p.Leu247_Pro248insGly
XM_011539982.1:c.645_646insGGA	XP_011538284.1:p.Leu215_Pro216insGly
XR_945791.1:n.1311_1312insGGA
NM_000314.7:c.741_742insGGA	NP_000305.3:p.Leu247_Pro248insGly
NM_001304717.5:c.1260_1261insGGA	NP_001291646.4:p.Leu420_Pro421insGly
NM_001304718.2:c.150_151insGGA	NP_001291647.1:p.Leu50_Pro51insGly
NM_000314.8:c.741_742insGGA MANE Select	NP_000305.3:p.Leu247_Pro248insGly