Canonical Allele Identifier: CA512318715
Gene: RUNX1 HGNC NCBI

Linked Data

COSMIC: COSM42107
MyVariant Identifiers: chr21:g.36252913del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880616del , CM000683.2:g.34880616del GRCh38
NC_000021.8:g.36252913del , CM000683.1:g.36252913del GRCh37
NC_000021.7:g.35174783del NCBI36
NG_011402.2:g.1109097del , LRG_482:g.1109097del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.450del MANE Select ENSP00000501943.1:p.Met151Ter
ENST00000300305.7:c.450del ENSP00000300305.3:p.Met151Ter
ENST00000344691.8:c.369del ENSP00000340690.4:p.Met124Ter
ENST00000358356.9:c.369del ENSP00000351123.5:p.Met124Ter
ENST00000399237.6:c.414del ENSP00000382182.2:p.Met139Ter
ENST00000399240.5:c.369del ENSP00000382184.1:p.Met124Ter
ENST00000437180.5:c.450del ENSP00000409227.1:p.Met151Ter
ENST00000455571.5:c.411del ENSP00000388189.1:p.Met138Ter
ENST00000482318.5:c.*40del ENSP00000477067.1:n.*40del
NM_001001890.2:c.369del NP_001001890.1:p.Met124Ter
NM_001122607.1:c.369del NP_001116079.1:p.Met124Ter
NM_001754.4:c.450del , LRG_482t1:c.450del NP_001745.2:p.Met151Ter
XM_005261068.3:c.414del XP_005261125.1:p.Met139Ter
XM_005261069.3:c.450del XP_005261126.1:p.Met151Ter
XM_011529766.1:c.450del XP_011528068.1:p.Met151Ter
XM_011529767.1:c.411del XP_011528069.1:p.Met138Ter
XM_011529768.1:c.411del XP_011528070.1:p.Met138Ter
XM_011529770.1:c.450del XP_011528072.1:p.Met151Ter
XR_937576.1:n.629del
XM_005261069.4:c.450del XP_005261126.1:p.Met151Ter
XM_011529766.2:c.450del XP_011528068.1:p.Met151Ter
XM_011529767.2:c.411del XP_011528069.1:p.Met138Ter
XM_011529768.2:c.411del XP_011528070.1:p.Met138Ter
XM_011529770.2:c.450del XP_011528072.1:p.Met151Ter
XM_017028487.1:c.297del XP_016883976.1:p.Met100Ter
XR_937576.2:n.676del
NM_001001890.3:c.369del NP_001001890.1:p.Met124Ter
NM_001122607.2:c.369del NP_001116079.1:p.Met124Ter
NM_001754.5:c.450del MANE Select NP_001745.2:p.Met151Ter