Canonical Allele Identifier: CA2499225883

Gene: RUNX1

Linked Data

• ClinVar Variation Id: 1073907
• ClinVar RCV Id: RCV001387047
• dbSNP Id: rs2146410761
• ERepo: CA2499225883/MONDO:0011071/008

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34886948dup , CM000683.2:g.34886948dup	GRCh38
NC_000021.8:g.36259245dup , CM000683.1:g.36259245dup	GRCh37
NC_000021.7:g.35181115dup	NCBI36
NG_011402.2:g.1102765dup , LRG_482:g.1102765dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.247dup MANE Select	ENSP00000501943.1:p.Ala83GlyfsTer?
ENST00000300305.7:c.247dup	ENSP00000300305.3:p.Ala83GlyfsTer?
ENST00000344691.8:c.166dup	ENSP00000340690.4:p.Ala56GlyfsTer?
ENST00000358356.9:c.166dup	ENSP00000351123.5:p.Ala56GlyfsTer?
ENST00000399237.6:c.211dup	ENSP00000382182.2:p.Ala71GlyfsTer?
ENST00000399240.5:c.166dup	ENSP00000382184.1:p.Ala56GlyfsTer?
ENST00000437180.5:c.247dup	ENSP00000409227.1:p.Ala83GlyfsTer?
ENST00000455571.5:c.208dup	ENSP00000388189.1:p.Ala70GlyfsTer?
ENST00000482318.5:c.59-6234dup	ENSP00000477067.1:n.59-6234dup
NM_001001890.2:c.166dup	NP_001001890.1:p.Ala56GlyfsTer?
NM_001122607.1:c.166dup	NP_001116079.1:p.Ala56GlyfsTer?
NM_001754.4:c.247dup , LRG_482t1:c.247dup	NP_001745.2:p.Ala83GlyfsTer?
XM_005261068.3:c.211dup	XP_005261125.1:p.Ala71GlyfsTer?
XM_005261069.3:c.247dup	XP_005261126.1:p.Ala83GlyfsTer?
XM_011529766.1:c.247dup	XP_011528068.1:p.Ala83GlyfsTer?
XM_011529767.1:c.208dup	XP_011528069.1:p.Ala70GlyfsTer?
XM_011529768.1:c.208dup	XP_011528070.1:p.Ala70GlyfsTer?
XM_011529770.1:c.247dup	XP_011528072.1:p.Ala83GlyfsTer?
XR_937576.1:n.426dup
XM_005261069.4:c.247dup	XP_005261126.1:p.Ala83GlyfsTer?
XM_011529766.2:c.247dup	XP_011528068.1:p.Ala83GlyfsTer?
XM_011529767.2:c.208dup	XP_011528069.1:p.Ala70GlyfsTer?
XM_011529768.2:c.208dup	XP_011528070.1:p.Ala70GlyfsTer?
XM_011529770.2:c.247dup	XP_011528072.1:p.Ala83GlyfsTer?
XM_017028487.1:c.94dup	XP_016883976.1:p.Ala32GlyfsTer?
XR_937576.2:n.473dup
NM_001001890.3:c.166dup	NP_001001890.1:p.Ala56GlyfsTer?
NM_001122607.2:c.166dup	NP_001116079.1:p.Ala56GlyfsTer?
NM_001754.5:c.247dup MANE Select	NP_001745.2:p.Ala83GlyfsTer?