Canonical Allele Identifier: CA1139659560
Community Standard Title: NM_001024630.4(RUNX2):c.203delinsCG (p.Gln68ProfsTer?)
Gene: RUNX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45422737delinsCG , CM000668.2:g.45422737delinsCG GRCh38
NC_000006.11:g.45390474delinsCG , CM000668.1:g.45390474delinsCG GRCh37
NC_000006.10:g.45498452delinsCG NCBI36
NG_008020.1:g.99421delinsCG
NG_008020.2:g.99421delinsCG

Transcript Alleles

HGVS Amino-acid Change
NM_001024630.4:c.203delinsCG MANE Select NP_001019801.3:p.Gln68ProfsTer?
ENST00000647337.2:c.203delinsCG MANE Select ENSP00000495497.1:p.Gln68ProfsTer?
NM_001015051.3:c.203delinsCG NP_001015051.3:p.Gln68ProfsTer?
NM_001015051.4:c.203delinsCG NP_001015051.3:p.Gln68ProfsTer?
NM_001024630.3:c.203delinsCG NP_001019801.3:p.Gln68ProfsTer?
NM_001278478.1:c.161delinsCG NP_001265407.1:p.Gln54ProfsTer?
NM_001278478.2:c.161delinsCG NP_001265407.1:p.Gln54ProfsTer?
NM_001369405.1:c.161delinsCG NP_001356334.1:p.Gln54ProfsTer?
ENST00000359524.7:c.161delinsCG ENSP00000352514.5:p.Gln54ProfsTer?
ENST00000371432.7:c.203delinsCG ENSP00000360486.4:p.Gln68ProfsTer?
ENST00000371436.10:c.203delinsCG ENSP00000360491.6:p.Gln68ProfsTer?
ENST00000371438.5:c.203delinsCG ENSP00000360493.1:p.Gln68ProfsTer?
ENST00000465038.6:c.203delinsCG ENSP00000420707.2:p.Gln68ProfsTer?
ENST00000478660.6:c.161delinsCG ENSP00000460188.1:p.Gln54ProfsTer?
ENST00000483377.5:c.59-9126delinsCG ENSP00000461357.1:n.59-9126delinsCG
ENST00000576263.5:c.203delinsCG ENSP00000458178.1:p.Gln68ProfsTer?
ENST00000625924.1:c.161delinsCG ENSP00000485863.1:p.Gln54ProfsTer?
ENST00000646519.1:c.161delinsCG ENSP00000496517.1:p.Gln54ProfsTer?
XM_006715232.1:c.161delinsCG XP_006715295.1:p.Gln54ProfsTer?
XM_011514960.1:c.407delinsCG XP_011513262.1:p.Gln136ProfsTer?
XM_011514961.1:c.407delinsCG XP_011513263.1:p.Gln136ProfsTer?
XM_011514962.1:c.407delinsCG XP_011513264.1:p.Gln136ProfsTer?
XM_011514963.1:c.407delinsCG XP_011513265.1:p.Gln136ProfsTer?
XM_011514964.1:c.407delinsCG XP_011513266.1:p.Gln136ProfsTer?
XM_011514965.1:c.407delinsCG XP_011513267.1:p.Gln136ProfsTer?
XM_011514967.1:c.407delinsCG XP_011513269.1:p.Gln136ProfsTer?
XM_011514968.1:c.407delinsCG XP_011513270.1:p.Gln136ProfsTer?
XR_926323.1:n.919delinsCG