Canonical Allele Identifier: CA2573157369
Community Standard Title: NM_001754.5(RUNX1):c.965del (p.Ser322Ter)
Gene: RUNX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34799303del , CM000683.2:g.34799303del GRCh38
NC_000021.8:g.36171600del , CM000683.1:g.36171600del GRCh37
NC_000021.7:g.35093470del NCBI36
NG_011402.2:g.1190409del , LRG_482:g.1190409del

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.965del MANE Select NP_001745.2:p.Ser322Ter
ENST00000675419.1:c.965del MANE Select ENSP00000501943.1:p.Ser322Ter
NM_001001890.2:c.884del NP_001001890.1:p.Ser295Ter
NM_001001890.3:c.884del NP_001001890.1:p.Ser295Ter
NM_001754.4:c.965del , LRG_482t1:c.965del NP_001745.2:p.Ser322Ter
ENST00000300305.7:c.965del ENSP00000300305.3:p.Ser322Ter
ENST00000344691.8:c.884del ENSP00000340690.4:p.Ser295Ter
ENST00000399240.5:c.692del ENSP00000382184.1:p.Ser231Ter
ENST00000437180.5:c.965del ENSP00000409227.1:p.Ser322Ter
ENST00000482318.5:c.*555del ENSP00000477067.1:n.*555del
XM_005261068.3:c.929del XP_005261125.1:p.Ser310Ter
XM_005261069.3:c.773del XP_005261126.1:p.Ser258Ter
XM_005261069.4:c.773del XP_005261126.1:p.Ser258Ter
XM_011529766.1:c.965del XP_011528068.1:p.Ser322Ter
XM_011529766.2:c.965del XP_011528068.1:p.Ser322Ter
XM_011529767.1:c.926del XP_011528069.1:p.Ser309Ter
XM_011529767.2:c.926del XP_011528069.1:p.Ser309Ter
XM_011529768.1:c.734del XP_011528070.1:p.Ser245Ter
XM_011529768.2:c.734del XP_011528070.1:p.Ser245Ter
XM_017028487.1:c.812del XP_016883976.1:p.Ser271Ter
XR_937576.1:n.1144del
XR_937576.2:n.1191del
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