Canonical Allele Identifier: CA512318834
Gene: RUNX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.36259179del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886882del , CM000683.2:g.34886882del GRCh38
NC_000021.8:g.36259179del , CM000683.1:g.36259179del GRCh37
NC_000021.7:g.35181049del NCBI36
NG_011402.2:g.1102830del , LRG_482:g.1102830del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.312del MANE Select ENSP00000501943.1:p.His105ThrfsTer17
ENST00000300305.7:c.312del ENSP00000300305.3:p.His105ThrfsTer17
ENST00000344691.8:c.231del ENSP00000340690.4:p.His78ThrfsTer17
ENST00000358356.9:c.231del ENSP00000351123.5:p.His78ThrfsTer17
ENST00000399237.6:c.276del ENSP00000382182.2:p.His93ThrfsTer17
ENST00000399240.5:c.231del ENSP00000382184.1:p.His78ThrfsTer17
ENST00000437180.5:c.312del ENSP00000409227.1:p.His105ThrfsTer17
ENST00000455571.5:c.273del ENSP00000388189.1:p.His92ThrfsTer17
ENST00000482318.5:c.59-6169del ENSP00000477067.1:n.59-6169del
NM_001001890.2:c.231del NP_001001890.1:p.His78ThrfsTer17
NM_001122607.1:c.231del NP_001116079.1:p.His78ThrfsTer17
NM_001754.4:c.312del , LRG_482t1:c.312del NP_001745.2:p.His105ThrfsTer17
XM_005261068.3:c.276del XP_005261125.1:p.His93ThrfsTer17
XM_005261069.3:c.312del XP_005261126.1:p.His105ThrfsTer17
XM_011529766.1:c.312del XP_011528068.1:p.His105ThrfsTer17
XM_011529767.1:c.273del XP_011528069.1:p.His92ThrfsTer17
XM_011529768.1:c.273del XP_011528070.1:p.His92ThrfsTer17
XM_011529770.1:c.312del XP_011528072.1:p.His105ThrfsTer17
XR_937576.1:n.491del
XM_005261069.4:c.312del XP_005261126.1:p.His105ThrfsTer17
XM_011529766.2:c.312del XP_011528068.1:p.His105ThrfsTer17
XM_011529767.2:c.273del XP_011528069.1:p.His92ThrfsTer17
XM_011529768.2:c.273del XP_011528070.1:p.His92ThrfsTer17
XM_011529770.2:c.312del XP_011528072.1:p.His105ThrfsTer17
XM_017028487.1:c.159del XP_016883976.1:p.His54ThrfsTer17
XR_937576.2:n.538del
NM_001001890.3:c.231del NP_001001890.1:p.His78ThrfsTer17
NM_001122607.2:c.231del NP_001116079.1:p.His78ThrfsTer17
NM_001754.5:c.312del MANE Select NP_001745.2:p.His105ThrfsTer17