Canonical Allele Identifier: CA891840381

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957867_87957868delinsAA , CM000672.2:g.87957867_87957868delinsAA	GRCh38
NC_000010.10:g.89717624_89717625delinsAA , CM000672.1:g.89717624_89717625delinsAA	GRCh37
NC_000010.9:g.89707604_89707605delinsAA	NCBI36
NG_007466.2:g.99429_99430delinsAA , LRG_311:g.99429_99430delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.649_650delinsAA	ENSP00000514759.2:p.Val217Asn
ENST00000710265.1:c.649_650delinsAA	ENSP00000518161.1:p.Val217Asn
ENST00000472832.3:c.649_650delinsAA	ENSP00000483066.2:p.Val217Asn
ENST00000688158.2:n.1384_1385delinsAA
ENST00000688922.2:c.*479_*480delinsAA	ENSP00000508742.2:n.*479_*480delinsAA
ENST00000700021.1:c.604_605delinsAA	ENSP00000514757.1:p.Val202Asn
ENST00000700022.1:c.507_508delinsAA	ENSP00000514758.1:p.Trp169Ter
ENST00000700023.1:n.1807_1808delinsAA
ENST00000700024.1:n.2041_2042delinsAA
ENST00000700025.1:n.1418_1419delinsAA
ENST00000700026.1:n.286_287delinsAA
ENST00000700029.1:c.483_484delinsAA
ENST00000706954.1:c.649_650delinsAA	ENSP00000516674.1:p.Val217Asn
ENST00000706955.1:c.*684_*685delinsAA	ENSP00000516675.1:n.*684_*685delinsAA
ENST00000686459.1:c.*235_*236delinsAA	ENSP00000508909.1:n.*235_*236delinsAA
ENST00000688158.1:c.*760_*761delinsAA	ENSP00000509254.1:n.*760_*761delinsAA
ENST00000688308.1:c.649_650delinsAA	ENSP00000508752.1:p.Val217Asn
ENST00000688922.1:c.570_571delinsAA
ENST00000693560.1:c.1168_1169delinsAA	ENSP00000509861.1:p.Val390Asn
ENST00000371953.8:c.649_650delinsAA MANE Select	ENSP00000361021.3:p.Val217Asn
ENST00000371953.7:c.649_650delinsAA	ENSP00000361021.3:p.Val217Asn
ENST00000472832.2:c.76_77delinsAA	ENSP00000483066.1:p.Val26Asn
NM_000314.5:c.649_650delinsAA	NP_000305.3:p.Val217Asn
NM_000314.6:c.649_650delinsAA	NP_000305.3:p.Val217Asn
NM_001304717.2:c.1168_1169delinsAA	NP_001291646.2:p.Val390Asn
NM_001304718.1:c.58_59delinsAA	NP_001291647.1:p.Val20Asn
XM_006717926.2:c.604_605delinsAA	XP_006717989.1:p.Val202Asn
XM_011539981.1:c.649_650delinsAA	XP_011538283.1:p.Val217Asn
XM_011539982.1:c.553_554delinsAA	XP_011538284.1:p.Val185Asn
XR_945791.1:n.1219_1220delinsAA
NM_000314.7:c.649_650delinsAA	NP_000305.3:p.Val217Asn
NM_001304717.5:c.1168_1169delinsAA	NP_001291646.4:p.Val390Asn
NM_001304718.2:c.58_59delinsAA	NP_001291647.1:p.Val20Asn
NM_000314.8:c.649_650delinsAA MANE Select	NP_000305.3:p.Val217Asn