Canonical Allele Identifier: CA2573157364
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1692642
dbSNP Id: rs2146412458

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886999_34887004del , CM000683.2:g.34886999_34887004del GRCh38
NC_000021.8:g.36259296_36259301del , CM000683.1:g.36259296_36259301del GRCh37
NC_000021.7:g.35181166_35181171del NCBI36
NG_011402.2:g.1102709_1102714del , LRG_482:g.1102709_1102714del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.191_196del MANE Select ENSP00000501943.1:p.Gly64_Ala65del
ENST00000300305.7:c.191_196del ENSP00000300305.3:p.Gly64_Ala65del
ENST00000344691.8:c.110_115del ENSP00000340690.4:p.Gly37_Ala38del
ENST00000358356.9:c.110_115del ENSP00000351123.5:p.Gly37_Ala38del
ENST00000399237.6:c.155_160del ENSP00000382182.2:p.Gly52_Ala53del
ENST00000399240.5:c.110_115del ENSP00000382184.1:p.Gly37_Ala38del
ENST00000437180.5:c.191_196del ENSP00000409227.1:p.Gly64_Ala65del
ENST00000455571.5:c.152_157del ENSP00000388189.1:p.Gly51_Ala52del
ENST00000482318.5:c.59-6290_59-6285del ENSP00000477067.1:n.59-6290_59-6285del
NM_001001890.2:c.110_115del NP_001001890.1:p.Gly37_Ala38del
NM_001122607.1:c.110_115del NP_001116079.1:p.Gly37_Ala38del
NM_001754.4:c.191_196del , LRG_482t1:c.191_196del NP_001745.2:p.Gly64_Ala65del
XM_005261068.3:c.155_160del XP_005261125.1:p.Gly52_Ala53del
XM_005261069.3:c.191_196del XP_005261126.1:p.Gly64_Ala65del
XM_011529766.1:c.191_196del XP_011528068.1:p.Gly64_Ala65del
XM_011529767.1:c.152_157del XP_011528069.1:p.Gly51_Ala52del
XM_011529768.1:c.152_157del XP_011528070.1:p.Gly51_Ala52del
XM_011529770.1:c.191_196del XP_011528072.1:p.Gly64_Ala65del
XR_937576.1:n.370_375del
XM_005261069.4:c.191_196del XP_005261126.1:p.Gly64_Ala65del
XM_011529766.2:c.191_196del XP_011528068.1:p.Gly64_Ala65del
XM_011529767.2:c.152_157del XP_011528069.1:p.Gly51_Ala52del
XM_011529768.2:c.152_157del XP_011528070.1:p.Gly51_Ala52del
XM_011529770.2:c.191_196del XP_011528072.1:p.Gly64_Ala65del
XM_017028487.1:c.38_43del XP_016883976.1:p.Gly13_Ala14del
XR_937576.2:n.417_422del
NM_001001890.3:c.110_115del NP_001001890.1:p.Gly37_Ala38del
NM_001122607.2:c.110_115del NP_001116079.1:p.Gly37_Ala38del
NM_001754.5:c.191_196del MANE Select NP_001745.2:p.Gly64_Ala65del