Canonical Allele Identifier: CA2044139032
Gene: MDM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.68808618_68808639delinsGGGCGCGGGGCATGGGGCACGT , CM000674.2:g.68808618_68808639delinsGGGCGCGGGGCATGGGGCACGT GRCh38
NC_000012.11:g.69202398_69202419delinsGGGCGCGGGGCATGGGGCACGT , CM000674.1:g.69202398_69202419delinsGGGCGCGGGGCATGGGGCACGT GRCh37
NC_000012.10:g.67488665_67488686delinsGGGCGCGGGGCATGGGGCACGT NCBI36
NG_016708.1:g.5428_5449delinsGGGCGCGGGGCATGGGGCACGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000258149.11:c.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT MANE Select ENSP00000258149.6:n.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT...
ENST00000258149.10:c.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT ENSP00000258149.6:n.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT...
ENST00000393417.8:c.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT ENSP00000429021.3:n.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT...
ENST00000258148.11:c.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT ENSP00000258148.7:n.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT...
ENST00000258149.9:c.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT ENSP00000258149.6:n.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT...
ENST00000311420.13:c.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT ENSP00000310742.9:n.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT...
ENST00000393412.7:c.-5+127_-5+148delinsGGGCGCGGGGCATGGGGCACGT ENSP00000377064.4:n.-5+127_-5+148delinsGGGCGCGGGGCATGGGGCACGT...
ENST00000393417.7:c.-5+127_-5+148delinsGGGCGCGGGGCATGGGGCACGT ENSP00000429021.2:n.-5+127_-5+148delinsGGGCGCGGGGCATGGGGCACGT...
ENST00000428863.6:c.-5+127_-5+148delinsGGGCGCGGGGCATGGGGCACGT ENSP00000410694.3:n.-5+127_-5+148delinsGGGCGCGGGGCATGGGGCACGT...
ENST00000462284.5:c.-5+127_-5+148delinsGGGCGCGGGGCATGGGGCACGT ENSP00000417281.2:n.-5+127_-5+148delinsGGGCGCGGGGCATGGGGCACGT...
ENST00000493419.1:n.210+127_210+148delinsGGGCGCGGGGCATGGGGCACGT
NM_001145339.2:c.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT NP_001138811.1:n.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT
NM_002392.5:c.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT NP_002383.2:n.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT
XM_006719400.2:c.-174+127_-174+148delinsGGGCGCGGGGCATGGGGCACGT XP_006719463.1:n.-174+127_-174+148delinsGGGCGCGGGGCATGGGGCACG...
XM_006719400.4:c.-174+127_-174+148delinsGGGCGCGGGGCATGGGGCACGT XP_006719463.1:n.-174+127_-174+148delinsGGGCGCGGGGCATGGGGCACG...
NM_002392.6:c.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT MANE Select NP_002383.2:n.14+127_14+148delinsGGGCGCGGGGCATGGGGCACGT