Canonical Allele Identifier: CA2695230129
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880579_34880580insT , CM000683.2:g.34880579_34880580insT GRCh38
NC_000021.8:g.36252876_36252877insT , CM000683.1:g.36252876_36252877insT GRCh37
NC_000021.7:g.35174746_35174747insT NCBI36
NG_011402.2:g.1109132_1109133insA , LRG_482:g.1109132_1109133insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.485_486insA MANE Select ENSP00000501943.1:p.Phe163ValfsTer?
ENST00000300305.7:c.485_486insA ENSP00000300305.3:p.Phe163ValfsTer?
ENST00000344691.8:c.404_405insA ENSP00000340690.4:p.Phe136ValfsTer?
ENST00000358356.9:c.404_405insA ENSP00000351123.5:p.Phe136ValfsTer?
ENST00000399237.6:c.449_450insA ENSP00000382182.2:p.Phe151ValfsTer?
ENST00000399240.5:c.404_405insA ENSP00000382184.1:p.Phe136ValfsTer?
ENST00000437180.5:c.485_486insA ENSP00000409227.1:p.Phe163ValfsTer?
ENST00000482318.5:c.*75_*76insA ENSP00000477067.1:n.*75_*76insA
NM_001001890.2:c.404_405insA NP_001001890.1:p.Phe136ValfsTer?
NM_001122607.1:c.404_405insA NP_001116079.1:p.Phe136ValfsTer?
NM_001754.4:c.485_486insA , LRG_482t1:c.485_486insA NP_001745.2:p.Phe163ValfsTer?
XM_005261068.3:c.449_450insA XP_005261125.1:p.Phe151ValfsTer?
XM_005261069.3:c.485_486insA XP_005261126.1:p.Phe163ValfsTer?
XM_011529766.1:c.485_486insA XP_011528068.1:p.Phe163ValfsTer?
XM_011529767.1:c.446_447insA XP_011528069.1:p.Phe150ValfsTer?
XM_011529768.1:c.446_447insA XP_011528070.1:p.Phe150ValfsTer?
XM_011529770.1:c.485_486insA XP_011528072.1:p.Phe163ValfsTer?
XR_937576.1:n.664_665insA
XM_005261069.4:c.485_486insA XP_005261126.1:p.Phe163ValfsTer?
XM_011529766.2:c.485_486insA XP_011528068.1:p.Phe163ValfsTer?
XM_011529767.2:c.446_447insA XP_011528069.1:p.Phe150ValfsTer?
XM_011529768.2:c.446_447insA XP_011528070.1:p.Phe150ValfsTer?
XM_011529770.2:c.485_486insA XP_011528072.1:p.Phe163ValfsTer?
XM_017028487.1:c.332_333insA XP_016883976.1:p.Phe112ValfsTer?
XR_937576.2:n.711_712insA
NM_001001890.3:c.404_405insA NP_001001890.1:p.Phe136ValfsTer?
NM_001122607.2:c.404_405insA NP_001116079.1:p.Phe136ValfsTer?
NM_001754.5:c.485_486insA MANE Select NP_001745.2:p.Phe163ValfsTer?