Canonical Allele Identifier: CA2695203438

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960964_87960967dup , CM000672.2:g.87960964_87960967dup	GRCh38
NC_000010.10:g.89720721_89720724dup , CM000672.1:g.89720721_89720724dup	GRCh37
NC_000010.9:g.89710701_89710704dup	NCBI36
NG_007466.2:g.102526_102529dup , LRG_311:g.102526_102529dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.965_968dup	ENSP00000514759.2:p.Asn323LysfsTer7
ENST00000710265.1:c.872_875dup	ENSP00000518161.1:p.Asn292LysfsTer7
ENST00000472832.3:c.872_875dup	ENSP00000483066.2:p.Asn292LysfsTer7
ENST00000688158.2:n.1607_1610dup
ENST00000688922.2:c.*702_*705dup	ENSP00000508742.2:n.*702_*705dup
ENST00000700021.1:c.827_830dup	ENSP00000514757.1:p.Asn277LysfsTer7
ENST00000700022.1:c.*211_*214dup	ENSP00000514758.1:n.*211_*214dup
ENST00000700023.1:n.2030_2033dup
ENST00000700024.1:n.2264_2267dup
ENST00000700025.1:n.1641_1644dup
ENST00000700026.1:n.509_512dup
ENST00000700029.1:c.799_802dup
ENST00000706954.1:c.872_875dup	ENSP00000516674.1:p.Asn292LysfsTer7
ENST00000706955.1:c.*907_*910dup	ENSP00000516675.1:n.*907_*910dup
ENST00000686459.1:c.*458_*461dup	ENSP00000508909.1:n.*458_*461dup
ENST00000688158.1:c.*983_*986dup	ENSP00000509254.1:n.*983_*986dup
ENST00000688308.1:c.872_875dup	ENSP00000508752.1:p.Asn292LysfsTer7
ENST00000688922.1:c.793_796dup
ENST00000693560.1:c.1391_1394dup	ENSP00000509861.1:p.Asn465LysfsTer7
ENST00000371953.8:c.872_875dup MANE Select	ENSP00000361021.3:p.Asn292LysfsTer7
ENST00000371953.7:c.872_875dup	ENSP00000361021.3:p.Asn292LysfsTer7
ENST00000472832.2:c.299_302dup	ENSP00000483066.1:p.Asn101LysfsTer7
NM_000314.5:c.872_875dup	NP_000305.3:p.Asn292LysfsTer7
NM_000314.6:c.872_875dup	NP_000305.3:p.Asn292LysfsTer7
NM_001304717.2:c.1391_1394dup	NP_001291646.2:p.Asn465LysfsTer7
NM_001304718.1:c.281_284dup	NP_001291647.1:p.Asn95LysfsTer7
XM_006717926.2:c.827_830dup	XP_006717989.1:p.Asn277LysfsTer7
XM_011539981.1:c.872_875dup	XP_011538283.1:p.Asn292LysfsTer7
XM_011539982.1:c.776_779dup	XP_011538284.1:p.Asn260LysfsTer7
XR_945791.1:n.1442_1445dup
NM_000314.7:c.872_875dup	NP_000305.3:p.Asn292LysfsTer7
NM_001304717.5:c.1391_1394dup	NP_001291646.4:p.Asn465LysfsTer7
NM_001304718.2:c.281_284dup	NP_001291647.1:p.Asn95LysfsTer7
NM_000314.8:c.872_875dup MANE Select	NP_000305.3:p.Asn292LysfsTer7