Canonical Allele Identifier: CA512318847
Gene: RUNX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.36259191_36259192insC (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886894_34886895insC , CM000683.2:g.34886894_34886895insC GRCh38
NC_000021.8:g.36259191_36259192insC , CM000683.1:g.36259191_36259192insC GRCh37
NC_000021.7:g.35181061_35181062insC NCBI36
NG_011402.2:g.1102817_1102818insG , LRG_482:g.1102817_1102818insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.299_300insG MANE Select ENSP00000501943.1:p.Val101ArgfsTer?
ENST00000300305.7:c.299_300insG ENSP00000300305.3:p.Val101ArgfsTer?
ENST00000344691.8:c.218_219insG ENSP00000340690.4:p.Val74ArgfsTer?
ENST00000358356.9:c.218_219insG ENSP00000351123.5:p.Val74ArgfsTer?
ENST00000399237.6:c.263_264insG ENSP00000382182.2:p.Val89ArgfsTer?
ENST00000399240.5:c.218_219insG ENSP00000382184.1:p.Val74ArgfsTer?
ENST00000437180.5:c.299_300insG ENSP00000409227.1:p.Val101ArgfsTer?
ENST00000455571.5:c.260_261insG ENSP00000388189.1:p.Val88ArgfsTer?
ENST00000482318.5:c.59-6182_59-6181insG ENSP00000477067.1:n.59-6182_59-6181insG
NM_001001890.2:c.218_219insG NP_001001890.1:p.Val74ArgfsTer?
NM_001122607.1:c.218_219insG NP_001116079.1:p.Val74ArgfsTer?
NM_001754.4:c.299_300insG , LRG_482t1:c.299_300insG NP_001745.2:p.Val101ArgfsTer?
XM_005261068.3:c.263_264insG XP_005261125.1:p.Val89ArgfsTer?
XM_005261069.3:c.299_300insG XP_005261126.1:p.Val101ArgfsTer?
XM_011529766.1:c.299_300insG XP_011528068.1:p.Val101ArgfsTer?
XM_011529767.1:c.260_261insG XP_011528069.1:p.Val88ArgfsTer?
XM_011529768.1:c.260_261insG XP_011528070.1:p.Val88ArgfsTer?
XM_011529770.1:c.299_300insG XP_011528072.1:p.Val101ArgfsTer?
XR_937576.1:n.478_479insG
XM_005261069.4:c.299_300insG XP_005261126.1:p.Val101ArgfsTer?
XM_011529766.2:c.299_300insG XP_011528068.1:p.Val101ArgfsTer?
XM_011529767.2:c.260_261insG XP_011528069.1:p.Val88ArgfsTer?
XM_011529768.2:c.260_261insG XP_011528070.1:p.Val88ArgfsTer?
XM_011529770.2:c.299_300insG XP_011528072.1:p.Val101ArgfsTer?
XM_017028487.1:c.146_147insG XP_016883976.1:p.Val50ArgfsTer?
XR_937576.2:n.525_526insG
NM_001001890.3:c.218_219insG NP_001001890.1:p.Val74ArgfsTer?
NM_001122607.2:c.218_219insG NP_001116079.1:p.Val74ArgfsTer?
NM_001754.5:c.299_300insG MANE Select NP_001745.2:p.Val101ArgfsTer?
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