Canonical Allele Identifier: CA2737753333
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs2146362053

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880637_34880641del , CM000683.2:g.34880637_34880641del GRCh38
NC_000021.8:g.36252934_36252938del , CM000683.1:g.36252934_36252938del GRCh37
NC_000021.7:g.35174804_35174808del NCBI36
NG_011402.2:g.1109077_1109081del , LRG_482:g.1109077_1109081del

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.430_434del MANE Select ENSP00000501943.1:p.Leu144LysfsTer14
ENST00000300305.7:c.430_434del ENSP00000300305.3:p.Leu144LysfsTer14
ENST00000344691.8:c.349_353del ENSP00000340690.4:p.Leu117LysfsTer14
ENST00000358356.9:c.349_353del ENSP00000351123.5:p.Leu117LysfsTer14
ENST00000399237.6:c.394_398del ENSP00000382182.2:p.Leu132LysfsTer14
ENST00000399240.5:c.349_353del ENSP00000382184.1:p.Leu117LysfsTer14
ENST00000437180.5:c.430_434del ENSP00000409227.1:p.Leu144LysfsTer14
ENST00000455571.5:c.391_395del ENSP00000388189.1:p.Leu131LysfsTer?
ENST00000482318.5:c.*20_*24del ENSP00000477067.1:n.*20_*24del
NM_001001890.2:c.349_353del NP_001001890.1:p.Leu117LysfsTer14
NM_001122607.1:c.349_353del NP_001116079.1:p.Leu117LysfsTer14
NM_001754.4:c.430_434del , LRG_482t1:c.430_434del NP_001745.2:p.Leu144LysfsTer14
XM_005261068.3:c.394_398del XP_005261125.1:p.Leu132LysfsTer14
XM_005261069.3:c.430_434del XP_005261126.1:p.Leu144LysfsTer14
XM_011529766.1:c.430_434del XP_011528068.1:p.Leu144LysfsTer14
XM_011529767.1:c.391_395del XP_011528069.1:p.Leu131LysfsTer14
XM_011529768.1:c.391_395del XP_011528070.1:p.Leu131LysfsTer14
XM_011529770.1:c.430_434del XP_011528072.1:p.Leu144LysfsTer14
XR_937576.1:n.609_613del
XM_005261069.4:c.430_434del XP_005261126.1:p.Leu144LysfsTer14
XM_011529766.2:c.430_434del XP_011528068.1:p.Leu144LysfsTer14
XM_011529767.2:c.391_395del XP_011528069.1:p.Leu131LysfsTer14
XM_011529768.2:c.391_395del XP_011528070.1:p.Leu131LysfsTer14
XM_011529770.2:c.430_434del XP_011528072.1:p.Leu144LysfsTer14
XM_017028487.1:c.277_281del XP_016883976.1:p.Leu93LysfsTer14
XR_937576.2:n.656_660del
NM_001001890.3:c.349_353del NP_001001890.1:p.Leu117LysfsTer14
NM_001122607.2:c.349_353del NP_001116079.1:p.Leu117LysfsTer14
NM_001754.5:c.430_434del MANE Select NP_001745.2:p.Leu144LysfsTer14