Canonical Allele Identifier: CA1926190070

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961040_87961041delinsAG , CM000672.2:g.87961040_87961041delinsAG	GRCh38
NC_000010.10:g.89720797_89720798delinsAG , CM000672.1:g.89720797_89720798delinsAG	GRCh37
NC_000010.9:g.89710777_89710778delinsAG	NCBI36
NG_007466.2:g.102602_102603delinsAG , LRG_311:g.102602_102603delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1041_1042delinsAG	ENSP00000514759.2:p.Leu347=
ENST00000710265.1:c.948_949delinsAG	ENSP00000518161.1:p.Leu316=
ENST00000472832.3:c.948_949delinsAG	ENSP00000483066.2:p.Leu316=
ENST00000688158.2:n.1683_1684delinsAG
ENST00000688922.2:c.*778_*779delinsAG	ENSP00000508742.2:n.*778_*779delinsAG
ENST00000700021.1:c.903_904delinsAG	ENSP00000514757.1:p.Leu301=
ENST00000700022.1:c.*287_*288delinsAG	ENSP00000514758.1:n.*287_*288delinsAG
ENST00000700023.1:n.2106_2107delinsAG
ENST00000700024.1:n.2340_2341delinsAG
ENST00000700025.1:n.1717_1718delinsAG
ENST00000700026.1:n.585_586delinsAG
ENST00000706954.1:c.948_949delinsAG	ENSP00000516674.1:p.Leu316=
ENST00000706955.1:c.*983_*984delinsAG	ENSP00000516675.1:n.*983_*984delinsAG
ENST00000686459.1:c.*534_*535delinsAG	ENSP00000508909.1:n.*534_*535delinsAG
ENST00000688158.1:c.*1059_*1060delinsAG	ENSP00000509254.1:n.*1059_*1060delinsAG
ENST00000688308.1:c.948_949delinsAG	ENSP00000508752.1:p.Leu316=
ENST00000688922.1:c.869_870delinsAG
ENST00000693560.1:c.1467_1468delinsAG	ENSP00000509861.1:p.Leu489=
ENST00000371953.8:c.948_949delinsAG MANE Select	ENSP00000361021.3:p.Leu316=
ENST00000371953.7:c.948_949delinsAG	ENSP00000361021.3:p.Leu316=
ENST00000472832.2:c.375_376delinsAG	ENSP00000483066.1:p.Leu125=
NM_000314.5:c.948_949delinsAG	NP_000305.3:p.Leu316=
NM_000314.6:c.948_949delinsAG	NP_000305.3:p.Leu316=
NM_001304717.2:c.1467_1468delinsAG	NP_001291646.2:p.Leu489=
NM_001304718.1:c.357_358delinsAG	NP_001291647.1:p.Leu119=
XM_006717926.2:c.903_904delinsAG	XP_006717989.1:p.Leu301=
XM_011539981.1:c.948_949delinsAG	XP_011538283.1:p.Leu316=
XM_011539982.1:c.852_853delinsAG	XP_011538284.1:p.Leu284=
XR_945791.1:n.1518_1519delinsAG
NM_000314.7:c.948_949delinsAG	NP_000305.3:p.Leu316=
NM_001304717.5:c.1467_1468delinsAG	NP_001291646.4:p.Leu489=
NM_001304718.2:c.357_358delinsAG	NP_001291647.1:p.Leu119=
NM_000314.8:c.948_949delinsAG MANE Select	NP_000305.3:p.Leu316=