Canonical Allele Identifier: CA645554042
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957957_87957958insAAGG , CM000672.2:g.87957957_87957958insAAGG GRCh38
NC_000010.10:g.89717714_89717715insAAGG , CM000672.1:g.89717714_89717715insAAGG GRCh37
NC_000010.9:g.89707694_89707695insAAGG NCBI36
NG_007466.2:g.99519_99520insAAGG , LRG_311:g.99519_99520insAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.739_740insAAGG ENSP00000514759.2:p.Leu247Ter
ENST00000710265.1:c.739_740insAAGG ENSP00000518161.1:p.Leu247Ter
ENST00000472832.3:c.739_740insAAGG ENSP00000483066.2:p.Leu247Ter
ENST00000688158.2:n.1474_1475insAAGG
ENST00000688922.2:c.*569_*570insAAGG ENSP00000508742.2:n.*569_*570insAAGG
ENST00000700021.1:c.694_695insAAGG ENSP00000514757.1:p.Leu232Ter
ENST00000700022.1:c.*78_*79insAAGG ENSP00000514758.1:n.*78_*79insAAGG
ENST00000700023.1:n.1897_1898insAAGG
ENST00000700024.1:n.2131_2132insAAGG
ENST00000700025.1:n.1508_1509insAAGG
ENST00000700026.1:n.376_377insAAGG
ENST00000700029.1:c.573_574insAAGG
ENST00000706954.1:c.739_740insAAGG ENSP00000516674.1:p.Leu247Ter
ENST00000706955.1:c.*774_*775insAAGG ENSP00000516675.1:n.*774_*775insAAGG
ENST00000686459.1:c.*325_*326insAAGG ENSP00000508909.1:n.*325_*326insAAGG
ENST00000688158.1:c.*850_*851insAAGG ENSP00000509254.1:n.*850_*851insAAGG
ENST00000688308.1:c.739_740insAAGG ENSP00000508752.1:p.Leu247Ter
ENST00000688922.1:c.660_661insAAGG
ENST00000693560.1:c.1258_1259insAAGG ENSP00000509861.1:p.Leu420Ter
ENST00000371953.8:c.739_740insAAGG MANE Select ENSP00000361021.3:p.Leu247Ter
ENST00000371953.7:c.739_740insAAGG ENSP00000361021.3:p.Leu247Ter
ENST00000472832.2:c.166_167insAAGG ENSP00000483066.1:p.Leu56Ter
NM_000314.5:c.739_740insAAGG NP_000305.3:p.Leu247Ter
NM_000314.6:c.739_740insAAGG NP_000305.3:p.Leu247Ter
NM_001304717.2:c.1258_1259insAAGG NP_001291646.2:p.Leu420Ter
NM_001304718.1:c.148_149insAAGG NP_001291647.1:p.Leu50Ter
XM_006717926.2:c.694_695insAAGG XP_006717989.1:p.Leu232Ter
XM_011539981.1:c.739_740insAAGG XP_011538283.1:p.Leu247Ter
XM_011539982.1:c.643_644insAAGG XP_011538284.1:p.Leu215Ter
XR_945791.1:n.1309_1310insAAGG
NM_000314.7:c.739_740insAAGG NP_000305.3:p.Leu247Ter
NM_001304717.5:c.1258_1259insAAGG NP_001291646.4:p.Leu420Ter
NM_001304718.2:c.148_149insAAGG NP_001291647.1:p.Leu50Ter
NM_000314.8:c.739_740insAAGG MANE Select NP_000305.3:p.Leu247Ter