Canonical Allele Identifier: CA2573157362
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1692643
dbSNP Id: rs2146410280

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886935_34886936dup , CM000683.2:g.34886935_34886936dup GRCh38
NC_000021.8:g.36259232_36259233dup , CM000683.1:g.36259232_36259233dup GRCh37
NC_000021.7:g.35181102_35181103dup NCBI36
NG_011402.2:g.1102777_1102778dup , LRG_482:g.1102777_1102778dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.259_260dup MANE Select ENSP00000501943.1:p.Glu88AlafsTer?
ENST00000300305.7:c.259_260dup ENSP00000300305.3:p.Glu88AlafsTer?
ENST00000344691.8:c.178_179dup ENSP00000340690.4:p.Glu61AlafsTer?
ENST00000358356.9:c.178_179dup ENSP00000351123.5:p.Glu61AlafsTer?
ENST00000399237.6:c.223_224dup ENSP00000382182.2:p.Glu76AlafsTer?
ENST00000399240.5:c.178_179dup ENSP00000382184.1:p.Glu61AlafsTer?
ENST00000437180.5:c.259_260dup ENSP00000409227.1:p.Glu88AlafsTer?
ENST00000455571.5:c.220_221dup ENSP00000388189.1:p.Glu75AlafsTer?
ENST00000482318.5:c.59-6222_59-6221dup ENSP00000477067.1:n.59-6222_59-6221dup
NM_001001890.2:c.178_179dup NP_001001890.1:p.Glu61AlafsTer?
NM_001122607.1:c.178_179dup NP_001116079.1:p.Glu61AlafsTer?
NM_001754.4:c.259_260dup , LRG_482t1:c.259_260dup NP_001745.2:p.Glu88AlafsTer?
XM_005261068.3:c.223_224dup XP_005261125.1:p.Glu76AlafsTer?
XM_005261069.3:c.259_260dup XP_005261126.1:p.Glu88AlafsTer?
XM_011529766.1:c.259_260dup XP_011528068.1:p.Glu88AlafsTer?
XM_011529767.1:c.220_221dup XP_011528069.1:p.Glu75AlafsTer?
XM_011529768.1:c.220_221dup XP_011528070.1:p.Glu75AlafsTer?
XM_011529770.1:c.259_260dup XP_011528072.1:p.Glu88AlafsTer?
XR_937576.1:n.438_439dup
XM_005261069.4:c.259_260dup XP_005261126.1:p.Glu88AlafsTer?
XM_011529766.2:c.259_260dup XP_011528068.1:p.Glu88AlafsTer?
XM_011529767.2:c.220_221dup XP_011528069.1:p.Glu75AlafsTer?
XM_011529768.2:c.220_221dup XP_011528070.1:p.Glu75AlafsTer?
XM_011529770.2:c.259_260dup XP_011528072.1:p.Glu88AlafsTer?
XM_017028487.1:c.106_107dup XP_016883976.1:p.Glu37AlafsTer?
XR_937576.2:n.485_486dup
NM_001001890.3:c.178_179dup NP_001001890.1:p.Glu61AlafsTer?
NM_001122607.2:c.178_179dup NP_001116079.1:p.Glu61AlafsTer?
NM_001754.5:c.259_260dup MANE Select NP_001745.2:p.Glu88AlafsTer?