Canonical Allele Identifier: CA2580618078
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880637_34880638del , CM000683.2:g.34880637_34880638del GRCh38
NC_000021.8:g.36252934_36252935del , CM000683.1:g.36252934_36252935del GRCh37
NC_000021.7:g.35174804_35174805del NCBI36
NG_011402.2:g.1109075_1109076del , LRG_482:g.1109075_1109076del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.428_429del MANE Select ENSP00000501943.1:p.Glu143AlafsTer16
ENST00000300305.7:c.428_429del ENSP00000300305.3:p.Glu143AlafsTer16
ENST00000344691.8:c.347_348del ENSP00000340690.4:p.Glu116AlafsTer16
ENST00000358356.9:c.347_348del ENSP00000351123.5:p.Glu116AlafsTer16
ENST00000399237.6:c.392_393del ENSP00000382182.2:p.Glu131AlafsTer16
ENST00000399240.5:c.347_348del ENSP00000382184.1:p.Glu116AlafsTer16
ENST00000437180.5:c.428_429del ENSP00000409227.1:p.Glu143AlafsTer16
ENST00000455571.5:c.389_390del ENSP00000388189.1:p.Glu130AlafsTer?
ENST00000482318.5:c.*18_*19del ENSP00000477067.1:n.*18_*19del
NM_001001890.2:c.347_348del NP_001001890.1:p.Glu116AlafsTer16
NM_001122607.1:c.347_348del NP_001116079.1:p.Glu116AlafsTer16
NM_001754.4:c.428_429del , LRG_482t1:c.428_429del NP_001745.2:p.Glu143AlafsTer16
XM_005261068.3:c.392_393del XP_005261125.1:p.Glu131AlafsTer16
XM_005261069.3:c.428_429del XP_005261126.1:p.Glu143AlafsTer16
XM_011529766.1:c.428_429del XP_011528068.1:p.Glu143AlafsTer16
XM_011529767.1:c.389_390del XP_011528069.1:p.Glu130AlafsTer16
XM_011529768.1:c.389_390del XP_011528070.1:p.Glu130AlafsTer16
XM_011529770.1:c.428_429del XP_011528072.1:p.Glu143AlafsTer16
XR_937576.1:n.607_608del
XM_005261069.4:c.428_429del XP_005261126.1:p.Glu143AlafsTer16
XM_011529766.2:c.428_429del XP_011528068.1:p.Glu143AlafsTer16
XM_011529767.2:c.389_390del XP_011528069.1:p.Glu130AlafsTer16
XM_011529768.2:c.389_390del XP_011528070.1:p.Glu130AlafsTer16
XM_011529770.2:c.428_429del XP_011528072.1:p.Glu143AlafsTer16
XM_017028487.1:c.275_276del XP_016883976.1:p.Glu92AlafsTer16
XR_937576.2:n.654_655del
NM_001001890.3:c.347_348del NP_001001890.1:p.Glu116AlafsTer16
NM_001122607.2:c.347_348del NP_001116079.1:p.Glu116AlafsTer16
NM_001754.5:c.428_429del MANE Select NP_001745.2:p.Glu143AlafsTer16