Canonical Allele Identifier: CA658656806
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 463988
ClinVar RCV Id: RCV000549717
dbSNP Id: rs1555899813

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886978_34886979dup , CM000683.2:g.34886978_34886979dup GRCh38
NC_000021.8:g.36259275_36259276dup , CM000683.1:g.36259275_36259276dup GRCh37
NC_000021.7:g.35181145_35181146dup NCBI36
NG_011402.2:g.1102733_1102734dup , LRG_482:g.1102733_1102734dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.215_216dup MANE Select ENSP00000501943.1:p.Ser73GlyfsTer?
ENST00000300305.7:c.215_216dup ENSP00000300305.3:p.Ser73GlyfsTer?
ENST00000344691.8:c.134_135dup ENSP00000340690.4:p.Ser46GlyfsTer?
ENST00000358356.9:c.134_135dup ENSP00000351123.5:p.Ser46GlyfsTer?
ENST00000399237.6:c.179_180dup ENSP00000382182.2:p.Ser61GlyfsTer?
ENST00000399240.5:c.134_135dup ENSP00000382184.1:p.Ser46GlyfsTer?
ENST00000437180.5:c.215_216dup ENSP00000409227.1:p.Ser73GlyfsTer?
ENST00000455571.5:c.176_177dup ENSP00000388189.1:p.Ser60GlyfsTer?
ENST00000482318.5:c.59-6266_59-6265dup ENSP00000477067.1:n.59-6266_59-6265dup
NM_001001890.2:c.134_135dup NP_001001890.1:p.Ser46GlyfsTer?
NM_001122607.1:c.134_135dup NP_001116079.1:p.Ser46GlyfsTer?
NM_001754.4:c.215_216dup , LRG_482t1:c.215_216dup NP_001745.2:p.Ser73GlyfsTer?
XM_005261068.3:c.179_180dup XP_005261125.1:p.Ser61GlyfsTer?
XM_005261069.3:c.215_216dup XP_005261126.1:p.Ser73GlyfsTer?
XM_011529766.1:c.215_216dup XP_011528068.1:p.Ser73GlyfsTer?
XM_011529767.1:c.176_177dup XP_011528069.1:p.Ser60GlyfsTer?
XM_011529768.1:c.176_177dup XP_011528070.1:p.Ser60GlyfsTer?
XM_011529770.1:c.215_216dup XP_011528072.1:p.Ser73GlyfsTer?
XR_937576.1:n.394_395dup
XM_005261069.4:c.215_216dup XP_005261126.1:p.Ser73GlyfsTer?
XM_011529766.2:c.215_216dup XP_011528068.1:p.Ser73GlyfsTer?
XM_011529767.2:c.176_177dup XP_011528069.1:p.Ser60GlyfsTer?
XM_011529768.2:c.176_177dup XP_011528070.1:p.Ser60GlyfsTer?
XM_011529770.2:c.215_216dup XP_011528072.1:p.Ser73GlyfsTer?
XM_017028487.1:c.62_63dup XP_016883976.1:p.Ser22GlyfsTer?
XR_937576.2:n.441_442dup
NM_001001890.3:c.134_135dup NP_001001890.1:p.Ser46GlyfsTer?
NM_001122607.2:c.134_135dup NP_001116079.1:p.Ser46GlyfsTer?
NM_001754.5:c.215_216dup MANE Select NP_001745.2:p.Ser73GlyfsTer?