Canonical Allele Identifier: CA2577483766
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34887000_34887027del , CM000683.2:g.34887000_34887027del GRCh38
NC_000021.8:g.36259297_36259324del , CM000683.1:g.36259297_36259324del GRCh37
NC_000021.7:g.35181167_35181194del NCBI36
NG_011402.2:g.1102689_1102716del , LRG_482:g.1102689_1102716del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.171_198del MANE Select ENSP00000501943.1:p.Leu58TrpfsTer5
ENST00000300305.7:c.171_198del ENSP00000300305.3:p.Leu58TrpfsTer5
ENST00000344691.8:c.90_117del ENSP00000340690.4:p.Leu31TrpfsTer5
ENST00000358356.9:c.90_117del ENSP00000351123.5:p.Leu31TrpfsTer5
ENST00000399237.6:c.135_162del ENSP00000382182.2:p.Leu46TrpfsTer5
ENST00000399240.5:c.90_117del ENSP00000382184.1:p.Leu31TrpfsTer5
ENST00000437180.5:c.171_198del ENSP00000409227.1:p.Leu58TrpfsTer5
ENST00000455571.5:c.132_159del ENSP00000388189.1:p.Leu45TrpfsTer5
ENST00000482318.5:c.59-6310_59-6283del ENSP00000477067.1:n.59-6310_59-6283del
NM_001001890.2:c.90_117del NP_001001890.1:p.Leu31TrpfsTer5
NM_001122607.1:c.90_117del NP_001116079.1:p.Leu31TrpfsTer5
NM_001754.4:c.171_198del , LRG_482t1:c.171_198del NP_001745.2:p.Leu58TrpfsTer5
XM_005261068.3:c.135_162del XP_005261125.1:p.Leu46TrpfsTer5
XM_005261069.3:c.171_198del XP_005261126.1:p.Leu58TrpfsTer5
XM_011529766.1:c.171_198del XP_011528068.1:p.Leu58TrpfsTer5
XM_011529767.1:c.132_159del XP_011528069.1:p.Leu45TrpfsTer5
XM_011529768.1:c.132_159del XP_011528070.1:p.Leu45TrpfsTer5
XM_011529770.1:c.171_198del XP_011528072.1:p.Leu58TrpfsTer5
XR_937576.1:n.350_377del
XM_005261069.4:c.171_198del XP_005261126.1:p.Leu58TrpfsTer5
XM_011529766.2:c.171_198del XP_011528068.1:p.Leu58TrpfsTer5
XM_011529767.2:c.132_159del XP_011528069.1:p.Leu45TrpfsTer5
XM_011529768.2:c.132_159del XP_011528070.1:p.Leu45TrpfsTer5
XM_011529770.2:c.171_198del XP_011528072.1:p.Leu58TrpfsTer5
XM_017028487.1:c.18_45del XP_016883976.1:p.Leu7TrpfsTer5
XR_937576.2:n.397_424del
NM_001001890.3:c.90_117del NP_001001890.1:p.Leu31TrpfsTer5
NM_001122607.2:c.90_117del NP_001116079.1:p.Leu31TrpfsTer5
NM_001754.5:c.171_198del MANE Select NP_001745.2:p.Leu58TrpfsTer5