Canonical Allele Identifier: CA2579985606
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880641_34880645del , CM000683.2:g.34880641_34880645del GRCh38
NC_000021.8:g.36252938_36252942del , CM000683.1:g.36252938_36252942del GRCh37
NC_000021.7:g.35174808_35174812del NCBI36
NG_011402.2:g.1109069_1109073del , LRG_482:g.1109069_1109073del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.422_426del MANE Select ENSP00000501943.1:p.Ser141Ter
ENST00000300305.7:c.422_426del ENSP00000300305.3:p.Ser141Ter
ENST00000344691.8:c.341_345del ENSP00000340690.4:p.Ser114Ter
ENST00000358356.9:c.341_345del ENSP00000351123.5:p.Ser114Ter
ENST00000399237.6:c.386_390del ENSP00000382182.2:p.Ser129Ter
ENST00000399240.5:c.341_345del ENSP00000382184.1:p.Ser114Ter
ENST00000437180.5:c.422_426del ENSP00000409227.1:p.Ser141Ter
ENST00000455571.5:c.383_387del ENSP00000388189.1:p.Ser128Ter
ENST00000482318.5:c.*12_*16del ENSP00000477067.1:n.*12_*16del
NM_001001890.2:c.341_345del NP_001001890.1:p.Ser114Ter
NM_001122607.1:c.341_345del NP_001116079.1:p.Ser114Ter
NM_001754.4:c.422_426del , LRG_482t1:c.422_426del NP_001745.2:p.Ser141Ter
XM_005261068.3:c.386_390del XP_005261125.1:p.Ser129Ter
XM_005261069.3:c.422_426del XP_005261126.1:p.Ser141Ter
XM_011529766.1:c.422_426del XP_011528068.1:p.Ser141Ter
XM_011529767.1:c.383_387del XP_011528069.1:p.Ser128Ter
XM_011529768.1:c.383_387del XP_011528070.1:p.Ser128Ter
XM_011529770.1:c.422_426del XP_011528072.1:p.Ser141Ter
XR_937576.1:n.601_605del
XM_005261069.4:c.422_426del XP_005261126.1:p.Ser141Ter
XM_011529766.2:c.422_426del XP_011528068.1:p.Ser141Ter
XM_011529767.2:c.383_387del XP_011528069.1:p.Ser128Ter
XM_011529768.2:c.383_387del XP_011528070.1:p.Ser128Ter
XM_011529770.2:c.422_426del XP_011528072.1:p.Ser141Ter
XM_017028487.1:c.269_273del XP_016883976.1:p.Ser90Ter
XR_937576.2:n.648_652del
NM_001001890.3:c.341_345del NP_001001890.1:p.Ser114Ter
NM_001122607.2:c.341_345del NP_001116079.1:p.Ser114Ter
NM_001754.5:c.422_426del MANE Select NP_001745.2:p.Ser141Ter