Canonical Allele Identifier: CA658797505
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 503750
ClinVar RCV Id: RCV000598848
dbSNP Id: rs1554889983
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863626_87863628delinsCTT , CM000672.2:g.87863626_87863628delinsCTT GRCh38
NC_000010.10:g.89623383_89623385delinsCTT , CM000672.1:g.89623383_89623385delinsCTT GRCh37
NC_000010.9:g.89613363_89613365delinsCTT NCBI36
NG_007466.2:g.5189_5191delinsCTT , LRG_311:g.5189_5191delinsCTT
NG_033079.1:g.4810_4812delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-844_-842delinsCTT (PTEN) ENSP00000514759.2:n.-844_-842delinsCTT
ENST00000710265.1:c.-844_-842delinsCTT (PTEN) ENSP00000518161.1:n.-844_-842delinsCTT
ENST00000706954.1:c.-16-828_-16-826delinsCTT (PTEN) ENSP00000516674.1:n.-16-828_-16-826delinsCTT
ENST00000706955.1:c.-844_-842delinsCTT (PTEN) ENSP00000516675.1:n.-844_-842delinsCTT
ENST00000688158.1:c.-844_-842delinsCTT (PTEN) ENSP00000509254.1:n.-844_-842delinsCTT
ENST00000688308.1:c.-17+513_-17+515delinsCTT (PTEN) ENSP00000508752.1:n.-17+513_-17+515delinsCTT
ENST00000692337.1:c.68_70delinsCTT (MLDHR) ENSP00000509326.1:p.Val23_Leu24delinsAlaPhe
ENST00000693560.1:c.-324_-322delinsCTT (PTEN) ENSP00000509861.1:n.-324_-322delinsCTT
ENST00000371953.8:c.-844_-842delinsCTT (PTEN) MANE Select ENSP00000361021.3:n.-844_-842delinsCTT
ENST00000371953.7:c.-844_-842delinsCTT (PTEN) ENSP00000361021.3:n.-844_-842delinsCTT
ENST00000610634.1:c.-946_-944delinsCTT (PTEN) ENSP00000477517.1:n.-946_-944delinsCTT
NM_000314.5:c.-843_-841delinsCTT (PTEN) NP_000305.3:n.-843_-841delinsCTT
NM_000314.6:c.-843_-841delinsCTT (PTEN) NP_000305.3:n.-843_-841delinsCTT
NM_001304717.2:c.-324_-322delinsCTT (PTEN) NP_001291646.2:n.-324_-322delinsCTT
NM_001304718.1:c.-1548_-1546delinsCTT (PTEN) NP_001291647.1:n.-1548_-1546delinsCTT
NM_000314.7:c.-843_-841delinsCTT (PTEN) NP_000305.3:n.-843_-841delinsCTT
NM_001304717.5:c.-324_-322delinsCTT (PTEN) NP_001291646.4:n.-324_-322delinsCTT
NM_001304718.2:c.-1548_-1546delinsCTT (PTEN) NP_001291647.1:n.-1548_-1546delinsCTT
NM_000314.8:c.-844_-842delinsCTT (PTEN) MANE Select NP_000305.3:n.-844_-842delinsCTT
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