Canonical Allele Identifier: CA658797504
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 503739
ClinVar RCV Id: RCV000598583
dbSNP Id: rs1554889947
MyVariant Identifiers: chr10:g.89623357_89623363del (hg19) chr10:g.87863600_87863606del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863600_87863606del , CM000672.2:g.87863600_87863606del GRCh38
NC_000010.10:g.89623357_89623363del , CM000672.1:g.89623357_89623363del GRCh37
NC_000010.9:g.89613337_89613343del NCBI36
NG_007466.2:g.5163_5169del , LRG_311:g.5163_5169del
NG_033079.1:g.4837_4843del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-854_-16-848del (PTEN) ENSP00000516674.1:n.-16-854_-16-848del
ENST00000688308.1:c.-17+487_-17+493del (PTEN) ENSP00000508752.1:n.-17+487_-17+493del
ENST00000692337.1:c.42_48del (MLDHR) ENSP00000509326.1:p.Ala16ArgfsTer?
ENST00000693560.1:c.-350_-344del (PTEN) ENSP00000509861.1:n.-350_-344del
ENST00000371953.7:c.-870_-864del (PTEN) ENSP00000361021.3:n.-870_-864del
ENST00000610634.1:c.-972_-966del (PTEN) ENSP00000477517.1:n.-972_-966del
NM_000314.5:c.-869_-863del (PTEN) NP_000305.3:n.-869_-863del
NM_000314.6:c.-869_-863del (PTEN) NP_000305.3:n.-869_-863del
NM_001304717.2:c.-350_-344del (PTEN) NP_001291646.2:n.-350_-344del
NM_001304718.1:c.-1574_-1568del (PTEN) NP_001291647.1:n.-1574_-1568del
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