Canonical Allele Identifier: CA2695202354
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880608_34880611dup , CM000683.2:g.34880608_34880611dup GRCh38
NC_000021.8:g.36252905_36252908dup , CM000683.1:g.36252905_36252908dup GRCh37
NC_000021.7:g.35174775_35174778dup NCBI36
NG_011402.2:g.1109102_1109105dup , LRG_482:g.1109102_1109105dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.455_458dup MANE Select ENSP00000501943.1:p.Asn153LysfsTer8
ENST00000300305.7:c.455_458dup ENSP00000300305.3:p.Asn153LysfsTer8
ENST00000344691.8:c.374_377dup ENSP00000340690.4:p.Asn126LysfsTer8
ENST00000358356.9:c.374_377dup ENSP00000351123.5:p.Asn126LysfsTer8
ENST00000399237.6:c.419_422dup ENSP00000382182.2:p.Asn141LysfsTer8
ENST00000399240.5:c.374_377dup ENSP00000382184.1:p.Asn126LysfsTer8
ENST00000437180.5:c.455_458dup ENSP00000409227.1:p.Asn153LysfsTer8
ENST00000455571.5:c.416_419dup ENSP00000388189.1:p.Asn140LysfsTer?
ENST00000482318.5:c.*45_*48dup ENSP00000477067.1:n.*45_*48dup
NM_001001890.2:c.374_377dup NP_001001890.1:p.Asn126LysfsTer8
NM_001122607.1:c.374_377dup NP_001116079.1:p.Asn126LysfsTer8
NM_001754.4:c.455_458dup , LRG_482t1:c.455_458dup NP_001745.2:p.Asn153LysfsTer8
XM_005261068.3:c.419_422dup XP_005261125.1:p.Asn141LysfsTer8
XM_005261069.3:c.455_458dup XP_005261126.1:p.Asn153LysfsTer8
XM_011529766.1:c.455_458dup XP_011528068.1:p.Asn153LysfsTer8
XM_011529767.1:c.416_419dup XP_011528069.1:p.Asn140LysfsTer8
XM_011529768.1:c.416_419dup XP_011528070.1:p.Asn140LysfsTer8
XM_011529770.1:c.455_458dup XP_011528072.1:p.Asn153LysfsTer8
XR_937576.1:n.634_637dup
XM_005261069.4:c.455_458dup XP_005261126.1:p.Asn153LysfsTer8
XM_011529766.2:c.455_458dup XP_011528068.1:p.Asn153LysfsTer8
XM_011529767.2:c.416_419dup XP_011528069.1:p.Asn140LysfsTer8
XM_011529768.2:c.416_419dup XP_011528070.1:p.Asn140LysfsTer8
XM_011529770.2:c.455_458dup XP_011528072.1:p.Asn153LysfsTer8
XM_017028487.1:c.302_305dup XP_016883976.1:p.Asn102LysfsTer8
XR_937576.2:n.681_684dup
NM_001001890.3:c.374_377dup NP_001001890.1:p.Asn126LysfsTer8
NM_001122607.2:c.374_377dup NP_001116079.1:p.Asn126LysfsTer8
NM_001754.5:c.455_458dup MANE Select NP_001745.2:p.Asn153LysfsTer8