Canonical Allele Identifier: CA3275505868
Community Standard Title: NM_000314.8(PTEN):c.445_447delinsGAG (p.Gln149Glu)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933204_87933206delinsGAG , CM000672.2:g.87933204_87933206delinsGAG GRCh38
NC_000010.10:g.89692961_89692963delinsGAG , CM000672.1:g.89692961_89692963delinsGAG GRCh37
NC_000010.9:g.89682941_89682943delinsGAG NCBI36
NG_007466.2:g.74766_74768delinsGAG , LRG_311:g.74766_74768delinsGAG

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.445_447delinsGAG MANE Select NP_000305.3:p.Gln149Glu
ENST00000371953.8:c.445_447delinsGAG MANE Select ENSP00000361021.3:p.Gln149Glu
NM_000314.5:c.445_447delinsGAG NP_000305.3:p.Gln149Glu
NM_000314.6:c.445_447delinsGAG NP_000305.3:p.Gln149Glu
NM_000314.7:c.445_447delinsGAG NP_000305.3:p.Gln149Glu
NM_001304717.2:c.964_966delinsGAG NP_001291646.2:p.Gln322Glu
NM_001304717.5:c.964_966delinsGAG NP_001291646.4:p.Gln322Glu
NM_001304718.1:c.-306_-304delinsGAG NP_001291647.1:n.-306_-304delinsGAG
NM_001304718.2:c.-306_-304delinsGAG NP_001291647.1:n.-306_-304delinsGAG
ENST00000371953.7:c.445_447delinsGAG ENSP00000361021.3:p.Gln149Glu
ENST00000472832.3:c.445_447delinsGAG ENSP00000483066.2:p.Gln149Glu
ENST00000498703.1:n.271_273delinsGAG
ENST00000610634.1:c.343_345delinsGAG ENSP00000477517.1:p.Gln115Glu
ENST00000686459.1:c.445_447delinsGAG ENSP00000508909.1:p.Gln149Glu
ENST00000688158.1:c.*556_*558delinsGAG ENSP00000509254.1:n.*556_*558delinsGAG
ENST00000688158.2:n.1180_1182delinsGAG
ENST00000688308.1:c.445_447delinsGAG ENSP00000508752.1:p.Gln149Glu
ENST00000688922.1:c.366_368delinsGAG
ENST00000688922.2:c.*275_*277delinsGAG ENSP00000508742.2:n.*275_*277delinsGAG
ENST00000693560.1:c.964_966delinsGAG ENSP00000509861.1:p.Gln322Glu
ENST00000700021.1:c.400_402delinsGAG ENSP00000514757.1:p.Gln134Glu
ENST00000700022.1:c.445_447delinsGAG ENSP00000514758.1:p.Gln149Glu
ENST00000700029.1:c.279_281delinsGAG
ENST00000700029.2:c.445_447delinsGAG ENSP00000514759.2:p.Gln149Glu
ENST00000706954.1:c.445_447delinsGAG ENSP00000516674.1:p.Gln149Glu
ENST00000706955.1:c.*480_*482delinsGAG ENSP00000516675.1:n.*480_*482delinsGAG
ENST00000710265.1:c.445_447delinsGAG ENSP00000518161.1:p.Gln149Glu
XM_006717926.2:c.400_402delinsGAG XP_006717989.1:p.Gln134Glu
XM_011539981.1:c.445_447delinsGAG XP_011538283.1:p.Gln149Glu
XM_011539982.1:c.349_351delinsGAG XP_011538284.1:p.Gln117Glu
XR_945789.1:n.1157_1159delinsGAG
XR_945790.1:n.1157_1159delinsGAG
XR_945791.1:n.1157_1159delinsGAG