Canonical Allele Identifier: CA2387297214
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs1802287073

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34887027_34887031dup , CM000683.2:g.34887027_34887031dup GRCh38
NC_000021.8:g.36259324_36259328dup , CM000683.1:g.36259324_36259328dup GRCh37
NC_000021.7:g.35181194_35181198dup NCBI36
NG_011402.2:g.1102683_1102687dup , LRG_482:g.1102683_1102687dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.165_169dup MANE Select ENSP00000501943.1:p.Pro57ArgfsTer17
ENST00000300305.7:c.165_169dup ENSP00000300305.3:p.Pro57ArgfsTer17
ENST00000344691.8:c.84_88dup ENSP00000340690.4:p.Pro30ArgfsTer17
ENST00000358356.9:c.84_88dup ENSP00000351123.5:p.Pro30ArgfsTer17
ENST00000399237.6:c.129_133dup ENSP00000382182.2:p.Pro45ArgfsTer17
ENST00000399240.5:c.84_88dup ENSP00000382184.1:p.Pro30ArgfsTer17
ENST00000437180.5:c.165_169dup ENSP00000409227.1:p.Pro57ArgfsTer17
ENST00000455571.5:c.126_130dup ENSP00000388189.1:p.Pro44ArgfsTer17
ENST00000482318.5:c.59-6316_59-6312dup ENSP00000477067.1:n.59-6316_59-6312dup
NM_001001890.2:c.84_88dup NP_001001890.1:p.Pro30ArgfsTer17
NM_001122607.1:c.84_88dup NP_001116079.1:p.Pro30ArgfsTer17
NM_001754.4:c.165_169dup , LRG_482t1:c.165_169dup NP_001745.2:p.Pro57ArgfsTer17
XM_005261068.3:c.129_133dup XP_005261125.1:p.Pro45ArgfsTer17
XM_005261069.3:c.165_169dup XP_005261126.1:p.Pro57ArgfsTer17
XM_011529766.1:c.165_169dup XP_011528068.1:p.Pro57ArgfsTer17
XM_011529767.1:c.126_130dup XP_011528069.1:p.Pro44ArgfsTer17
XM_011529768.1:c.126_130dup XP_011528070.1:p.Pro44ArgfsTer17
XM_011529770.1:c.165_169dup XP_011528072.1:p.Pro57ArgfsTer17
XR_937576.1:n.344_348dup
XM_005261069.4:c.165_169dup XP_005261126.1:p.Pro57ArgfsTer17
XM_011529766.2:c.165_169dup XP_011528068.1:p.Pro57ArgfsTer17
XM_011529767.2:c.126_130dup XP_011528069.1:p.Pro44ArgfsTer17
XM_011529768.2:c.126_130dup XP_011528070.1:p.Pro44ArgfsTer17
XM_011529770.2:c.165_169dup XP_011528072.1:p.Pro57ArgfsTer17
XM_017028487.1:c.12_16dup XP_016883976.1:p.Pro6ArgfsTer17
XR_937576.2:n.391_395dup
NM_001001890.3:c.84_88dup NP_001001890.1:p.Pro30ArgfsTer17
NM_001122607.2:c.84_88dup NP_001116079.1:p.Pro30ArgfsTer17
NM_001754.5:c.165_169dup MANE Select NP_001745.2:p.Pro57ArgfsTer17