Canonical Allele Identifier: CA1139666850
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 988416
dbSNP Id: rs2057999400

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886924dup , CM000683.2:g.34886924dup GRCh38
NC_000021.8:g.36259221dup , CM000683.1:g.36259221dup GRCh37
NC_000021.7:g.35181091dup NCBI36
NG_011402.2:g.1102788dup , LRG_482:g.1102788dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.270dup MANE Select ENSP00000501943.1:p.Arg91AlafsTer?
ENST00000300305.7:c.270dup ENSP00000300305.3:p.Arg91AlafsTer?
ENST00000344691.8:c.189dup ENSP00000340690.4:p.Arg64AlafsTer?
ENST00000358356.9:c.189dup ENSP00000351123.5:p.Arg64AlafsTer?
ENST00000399237.6:c.234dup ENSP00000382182.2:p.Arg79AlafsTer?
ENST00000399240.5:c.189dup ENSP00000382184.1:p.Arg64AlafsTer?
ENST00000437180.5:c.270dup ENSP00000409227.1:p.Arg91AlafsTer?
ENST00000455571.5:c.231dup ENSP00000388189.1:p.Arg78AlafsTer?
ENST00000482318.5:c.59-6211dup ENSP00000477067.1:n.59-6211dup
NM_001001890.2:c.189dup NP_001001890.1:p.Arg64AlafsTer?
NM_001122607.1:c.189dup NP_001116079.1:p.Arg64AlafsTer?
NM_001754.4:c.270dup , LRG_482t1:c.270dup NP_001745.2:p.Arg91AlafsTer?
XM_005261068.3:c.234dup XP_005261125.1:p.Arg79AlafsTer?
XM_005261069.3:c.270dup XP_005261126.1:p.Arg91AlafsTer?
XM_011529766.1:c.270dup XP_011528068.1:p.Arg91AlafsTer?
XM_011529767.1:c.231dup XP_011528069.1:p.Arg78AlafsTer?
XM_011529768.1:c.231dup XP_011528070.1:p.Arg78AlafsTer?
XM_011529770.1:c.270dup XP_011528072.1:p.Arg91AlafsTer?
XR_937576.1:n.449dup
XM_005261069.4:c.270dup XP_005261126.1:p.Arg91AlafsTer?
XM_011529766.2:c.270dup XP_011528068.1:p.Arg91AlafsTer?
XM_011529767.2:c.231dup XP_011528069.1:p.Arg78AlafsTer?
XM_011529768.2:c.231dup XP_011528070.1:p.Arg78AlafsTer?
XM_011529770.2:c.270dup XP_011528072.1:p.Arg91AlafsTer?
XM_017028487.1:c.117dup XP_016883976.1:p.Arg40AlafsTer?
XR_937576.2:n.496dup
NM_001001890.3:c.189dup NP_001001890.1:p.Arg64AlafsTer?
NM_001122607.2:c.189dup NP_001116079.1:p.Arg64AlafsTer?
NM_001754.5:c.270dup MANE Select NP_001745.2:p.Arg91AlafsTer?