Canonical Allele Identifier: CA3836332
Community Standard Title: NM_001024630.4(RUNX2):c.240_248del (p.Ala87_Ala89del)
Gene: RUNX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45422774_45422782del , CM000668.2:g.45422774_45422782del GRCh38
NC_000006.11:g.45390511_45390519del , CM000668.1:g.45390511_45390519del GRCh37
NC_000006.10:g.45498489_45498497del NCBI36
NG_008020.1:g.99458_99466del
NG_008020.2:g.99458_99466del

Transcript Alleles

HGVS Amino-acid Change
NM_001024630.4:c.240_248del MANE Select NP_001019801.3:p.Ala81_Ala83del
ENST00000647337.2:c.240_248del MANE Select ENSP00000495497.1:p.Ala81_Ala83del
NM_001015051.3:c.240_248del NP_001015051.3:p.Ala81_Ala83del
NM_001015051.4:c.240_248del NP_001015051.3:p.Ala81_Ala83del
NM_001024630.3:c.240_248del NP_001019801.3:p.Ala81_Ala83del
NM_001278478.1:c.198_206del NP_001265407.1:p.Ala67_Ala69del
NM_001278478.2:c.198_206del NP_001265407.1:p.Ala67_Ala69del
NM_001369405.1:c.198_206del NP_001356334.1:p.Ala67_Ala69del
ENST00000359524.7:c.198_206del ENSP00000352514.5:p.Ala67_Ala69del
ENST00000371432.7:c.240_248del ENSP00000360486.4:p.Ala81_Ala83del
ENST00000371436.10:c.240_248del ENSP00000360491.6:p.Ala81_Ala83del
ENST00000371438.5:c.240_248del ENSP00000360493.1:p.Ala81_Ala83del
ENST00000465038.6:c.240_248del ENSP00000420707.2:p.Ala81_Ala83del
ENST00000478660.6:c.198_206del ENSP00000460188.1:p.Ala67_Ala69del
ENST00000483377.5:c.59-9089_59-9081del ENSP00000461357.1:n.59-9089_59-9081del
ENST00000576263.5:c.240_248del ENSP00000458178.1:p.Ala81_Ala83del
ENST00000625924.1:c.198_206del ENSP00000485863.1:p.Ala67_Ala69del
ENST00000646519.1:c.198_206del ENSP00000496517.1:p.Ala67_Ala69del
XM_006715232.1:c.198_206del XP_006715295.1:p.Ala67_Ala69del
XM_011514960.1:c.444_452del XP_011513262.1:p.Ala149_Ala151del
XM_011514961.1:c.444_452del XP_011513263.1:p.Ala149_Ala151del
XM_011514962.1:c.444_452del XP_011513264.1:p.Ala149_Ala151del
XM_011514963.1:c.444_452del XP_011513265.1:p.Ala149_Ala151del
XM_011514964.1:c.444_452del XP_011513266.1:p.Ala149_Ala151del
XM_011514965.1:c.444_452del XP_011513267.1:p.Ala149_Ala151del
XM_011514967.1:c.444_452del XP_011513269.1:p.Ala149_Ala151del
XM_011514968.1:c.444_452del XP_011513270.1:p.Ala149_Ala151del
XR_926323.1:n.956_964del