Canonical Allele Identifier: CA2573157361
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1422929
ClinVar RCV Id: RCV001926349
dbSNP Id: rs2146410250

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886934_34886935delinsTT , CM000683.2:g.34886934_34886935delinsTT GRCh38
NC_000021.8:g.36259231_36259232delinsTT , CM000683.1:g.36259231_36259232delinsTT GRCh37
NC_000021.7:g.35181101_35181102delinsTT NCBI36
NG_011402.2:g.1102777_1102778delinsAA , LRG_482:g.1102777_1102778delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.259_260delinsAA MANE Select ENSP00000501943.1:p.Gly87Asn
ENST00000300305.7:c.259_260delinsAA ENSP00000300305.3:p.Gly87Asn
ENST00000344691.8:c.178_179delinsAA ENSP00000340690.4:p.Gly60Asn
ENST00000358356.9:c.178_179delinsAA ENSP00000351123.5:p.Gly60Asn
ENST00000399237.6:c.223_224delinsAA ENSP00000382182.2:p.Gly75Asn
ENST00000399240.5:c.178_179delinsAA ENSP00000382184.1:p.Gly60Asn
ENST00000437180.5:c.259_260delinsAA ENSP00000409227.1:p.Gly87Asn
ENST00000455571.5:c.220_221delinsAA ENSP00000388189.1:p.Gly74Asn
ENST00000482318.5:c.59-6222_59-6221delinsAA ENSP00000477067.1:n.59-6222_59-6221delinsAA
NM_001001890.2:c.178_179delinsAA NP_001001890.1:p.Gly60Asn
NM_001122607.1:c.178_179delinsAA NP_001116079.1:p.Gly60Asn
NM_001754.4:c.259_260delinsAA , LRG_482t1:c.259_260delinsAA NP_001745.2:p.Gly87Asn
XM_005261068.3:c.223_224delinsAA XP_005261125.1:p.Gly75Asn
XM_005261069.3:c.259_260delinsAA XP_005261126.1:p.Gly87Asn
XM_011529766.1:c.259_260delinsAA XP_011528068.1:p.Gly87Asn
XM_011529767.1:c.220_221delinsAA XP_011528069.1:p.Gly74Asn
XM_011529768.1:c.220_221delinsAA XP_011528070.1:p.Gly74Asn
XM_011529770.1:c.259_260delinsAA XP_011528072.1:p.Gly87Asn
XR_937576.1:n.438_439delinsAA
XM_005261069.4:c.259_260delinsAA XP_005261126.1:p.Gly87Asn
XM_011529766.2:c.259_260delinsAA XP_011528068.1:p.Gly87Asn
XM_011529767.2:c.220_221delinsAA XP_011528069.1:p.Gly74Asn
XM_011529768.2:c.220_221delinsAA XP_011528070.1:p.Gly74Asn
XM_011529770.2:c.259_260delinsAA XP_011528072.1:p.Gly87Asn
XM_017028487.1:c.106_107delinsAA XP_016883976.1:p.Gly36Asn
XR_937576.2:n.485_486delinsAA
NM_001001890.3:c.178_179delinsAA NP_001001890.1:p.Gly60Asn
NM_001122607.2:c.178_179delinsAA NP_001116079.1:p.Gly60Asn
NM_001754.5:c.259_260delinsAA MANE Select NP_001745.2:p.Gly87Asn