Canonical Allele Identifier: CA1926143164
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863626_87863628delinsTTC , CM000672.2:g.87863626_87863628delinsTTC GRCh38
NC_000010.10:g.89623383_89623385delinsTTC , CM000672.1:g.89623383_89623385delinsTTC GRCh37
NC_000010.9:g.89613363_89613365delinsTTC NCBI36
NG_007466.2:g.5189_5191delinsTTC , LRG_311:g.5189_5191delinsTTC
NG_033079.1:g.4810_4812delinsGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-844_-842delinsTTC (PTEN) ENSP00000514759.2:n.-844_-842delinsTTC
ENST00000710265.1:c.-844_-842delinsTTC (PTEN) ENSP00000518161.1:n.-844_-842delinsTTC
ENST00000706954.1:c.-16-828_-16-826delinsTTC (PTEN) ENSP00000516674.1:n.-16-828_-16-826delinsTTC
ENST00000706955.1:c.-844_-842delinsTTC (PTEN) ENSP00000516675.1:n.-844_-842delinsTTC
ENST00000688158.1:c.-844_-842delinsTTC (PTEN) ENSP00000509254.1:n.-844_-842delinsTTC
ENST00000688308.1:c.-17+513_-17+515delinsTTC (PTEN) ENSP00000508752.1:n.-17+513_-17+515delinsTTC
ENST00000692337.1:c.68_70delinsTTC (MLDHR) ENSP00000509326.1:p.Val23=
ENST00000693560.1:c.-324_-322delinsTTC (PTEN) ENSP00000509861.1:n.-324_-322delinsTTC
ENST00000371953.8:c.-844_-842delinsTTC (PTEN) MANE Select ENSP00000361021.3:n.-844_-842delinsTTC
ENST00000371953.7:c.-844_-842delinsTTC (PTEN) ENSP00000361021.3:n.-844_-842delinsTTC
ENST00000610634.1:c.-946_-944delinsTTC (PTEN) ENSP00000477517.1:n.-946_-944delinsTTC
NM_000314.5:c.-843_-841delinsTTC (PTEN) NP_000305.3:n.-843_-841delinsTTC
NM_000314.6:c.-843_-841delinsTTC (PTEN) NP_000305.3:n.-843_-841delinsTTC
NM_001304717.2:c.-324_-322delinsTTC (PTEN) NP_001291646.2:n.-324_-322delinsTTC
NM_001304718.1:c.-1548_-1546delinsTTC (PTEN) NP_001291647.1:n.-1548_-1546delinsTTC
NM_000314.7:c.-843_-841delinsTTC (PTEN) NP_000305.3:n.-843_-841delinsTTC
NM_001304717.5:c.-324_-322delinsTTC (PTEN) NP_001291646.4:n.-324_-322delinsTTC
NM_001304718.2:c.-1548_-1546delinsTTC (PTEN) NP_001291647.1:n.-1548_-1546delinsTTC
NM_000314.8:c.-844_-842delinsTTC (PTEN) MANE Select NP_000305.3:n.-844_-842delinsTTC
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