Canonical Allele Identifier: CA10014201
Community Standard Title: NM_001754.5(RUNX1):c.1098_1103dup (p.Ile366_Gly367dup)
Gene: RUNX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792486_34792491dup , CM000683.2:g.34792486_34792491dup GRCh38
NC_000021.8:g.36164783_36164788dup , CM000683.1:g.36164783_36164788dup GRCh37
NC_000021.7:g.35086653_35086658dup NCBI36
NG_011402.2:g.1197232_1197237dup , LRG_482:g.1197232_1197237dup

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.1098_1103dup MANE Select NP_001745.2:p.Gly367_Met368insIleGly
ENST00000675419.1:c.1098_1103dup MANE Select ENSP00000501943.1:p.Gly367_Met368insIleGly
NM_001001890.2:c.1017_1022dup NP_001001890.1:p.Gly340_Met341insIleGly
NM_001001890.3:c.1017_1022dup NP_001001890.1:p.Gly340_Met341insIleGly
NM_001754.4:c.1098_1103dup , LRG_482t1:c.1098_1103dup NP_001745.2:p.Gly367_Met368insIleGly
ENST00000300305.7:c.1098_1103dup ENSP00000300305.3:p.Gly367_Met368insIleGly
ENST00000344691.8:c.1017_1022dup ENSP00000340690.4:p.Gly340_Met341insIleGly
ENST00000399240.5:c.825_830dup ENSP00000382184.1:p.Gly276_Met277insIleGly
ENST00000437180.5:c.1098_1103dup ENSP00000409227.1:p.Gly367_Met368insIleGly
ENST00000482318.5:c.*688_*693dup ENSP00000477067.1:n.*688_*693dup
XM_005261068.3:c.1062_1067dup XP_005261125.1:p.Gly355_Met356insIleGly
XM_005261069.3:c.906_911dup XP_005261126.1:p.Gly303_Met304insIleGly
XM_005261069.4:c.906_911dup XP_005261126.1:p.Gly303_Met304insIleGly
XM_011529766.1:c.1098_1103dup XP_011528068.1:p.Gly367_Met368insIleGly
XM_011529766.2:c.1098_1103dup XP_011528068.1:p.Gly367_Met368insIleGly
XM_011529767.1:c.1059_1064dup XP_011528069.1:p.Gly354_Met355insIleGly
XM_011529767.2:c.1059_1064dup XP_011528069.1:p.Gly354_Met355insIleGly
XM_011529768.1:c.867_872dup XP_011528070.1:p.Gly290_Met291insIleGly
XM_011529768.2:c.867_872dup XP_011528070.1:p.Gly290_Met291insIleGly
XM_017028487.1:c.945_950dup XP_016883976.1:p.Gly316_Met317insIleGly
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