Canonical Allele Identifier: CA915947356

Gene: PTEN

Linked Data

• ClinVar Variation Id: 646995
• ClinVar RCV Id: RCV000801389
• dbSNP Id: rs1589666237

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961091_87961108del , CM000672.2:g.87961091_87961108del	GRCh38
NC_000010.10:g.89720848_89720865del , CM000672.1:g.89720848_89720865del	GRCh37
NC_000010.9:g.89710828_89710845del	NCBI36
NG_007466.2:g.102653_102670del , LRG_311:g.102653_102670del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1092_1109del	ENSP00000514759.2:p.Asn365_Pro370del
ENST00000710265.1:c.999_1016del	ENSP00000518161.1:p.Asn334_Pro339del
ENST00000472832.3:c.999_1016del	ENSP00000483066.2:p.Asn334_Pro339del
ENST00000688158.2:n.1734_1751del
ENST00000688922.2:c.*829_*846del	ENSP00000508742.2:n.*829_*846del
ENST00000700021.1:c.954_971del	ENSP00000514757.1:p.Asn319_Pro324del
ENST00000700022.1:c.*338_*355del	ENSP00000514758.1:n.*338_*355del
ENST00000700023.1:n.2157_2174del
ENST00000700024.1:n.2391_2408del
ENST00000700025.1:n.1768_1785del
ENST00000700026.1:n.636_653del
ENST00000706954.1:c.999_1016del	ENSP00000516674.1:p.Asn334_Pro339del
ENST00000706955.1:c.*1034_*1051del	ENSP00000516675.1:n.*1034_*1051del
ENST00000686459.1:c.*585_*602del	ENSP00000508909.1:n.*585_*602del
ENST00000688158.1:c.*1110_*1127del	ENSP00000509254.1:n.*1110_*1127del
ENST00000688308.1:c.999_1016del	ENSP00000508752.1:p.Asn334_Pro339del
ENST00000688922.1:c.920_937del
ENST00000693560.1:c.1518_1535del	ENSP00000509861.1:p.Asn507_Pro512del
ENST00000371953.8:c.999_1016del MANE Select	ENSP00000361021.3:p.Asn334_Pro339del
ENST00000371953.7:c.999_1016del	ENSP00000361021.3:p.Asn334_Pro339del
ENST00000472832.2:c.426_443del	ENSP00000483066.1:p.Asn143_Pro148del
NM_000314.5:c.999_1016del	NP_000305.3:p.Asn334_Pro339del
NM_000314.6:c.999_1016del	NP_000305.3:p.Asn334_Pro339del
NM_001304717.2:c.1518_1535del	NP_001291646.2:p.Asn507_Pro512del
NM_001304718.1:c.408_425del	NP_001291647.1:p.Asn137_Pro142del
XM_006717926.2:c.954_971del	XP_006717989.1:p.Asn319_Pro324del
XM_011539981.1:c.999_1016del	XP_011538283.1:p.Asn334_Pro339del
XM_011539982.1:c.903_920del	XP_011538284.1:p.Asn302_Pro307del
XR_945791.1:n.1569_1586del
NM_000314.7:c.999_1016del	NP_000305.3:p.Asn334_Pro339del
NM_001304717.5:c.1518_1535del	NP_001291646.4:p.Asn507_Pro512del
NM_001304718.2:c.408_425del	NP_001291647.1:p.Asn137_Pro142del
NM_000314.8:c.999_1016del MANE Select	NP_000305.3:p.Asn334_Pro339del