Canonical Allele Identifier: CA2695202283

Gene: RUNX1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34886944_34886945dup , CM000683.2:g.34886944_34886945dup	GRCh38
NC_000021.8:g.36259241_36259242dup , CM000683.1:g.36259241_36259242dup	GRCh37
NC_000021.7:g.35181111_35181112dup	NCBI36
NG_011402.2:g.1102767_1102768dup , LRG_482:g.1102767_1102768dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.249_250dup MANE Select	ENSP00000501943.1:p.Asp84AlafsTer?
ENST00000300305.7:c.249_250dup	ENSP00000300305.3:p.Asp84AlafsTer?
ENST00000344691.8:c.168_169dup	ENSP00000340690.4:p.Asp57AlafsTer?
ENST00000358356.9:c.168_169dup	ENSP00000351123.5:p.Asp57AlafsTer?
ENST00000399237.6:c.213_214dup	ENSP00000382182.2:p.Asp72AlafsTer?
ENST00000399240.5:c.168_169dup	ENSP00000382184.1:p.Asp57AlafsTer?
ENST00000437180.5:c.249_250dup	ENSP00000409227.1:p.Asp84AlafsTer?
ENST00000455571.5:c.210_211dup	ENSP00000388189.1:p.Asp71AlafsTer?
ENST00000482318.5:c.59-6232_59-6231dup	ENSP00000477067.1:n.59-6232_59-6231dup
NM_001001890.2:c.168_169dup	NP_001001890.1:p.Asp57AlafsTer?
NM_001122607.1:c.168_169dup	NP_001116079.1:p.Asp57AlafsTer?
NM_001754.4:c.249_250dup , LRG_482t1:c.249_250dup	NP_001745.2:p.Asp84AlafsTer?
XM_005261068.3:c.213_214dup	XP_005261125.1:p.Asp72AlafsTer?
XM_005261069.3:c.249_250dup	XP_005261126.1:p.Asp84AlafsTer?
XM_011529766.1:c.249_250dup	XP_011528068.1:p.Asp84AlafsTer?
XM_011529767.1:c.210_211dup	XP_011528069.1:p.Asp71AlafsTer?
XM_011529768.1:c.210_211dup	XP_011528070.1:p.Asp71AlafsTer?
XM_011529770.1:c.249_250dup	XP_011528072.1:p.Asp84AlafsTer?
XR_937576.1:n.428_429dup
XM_005261069.4:c.249_250dup	XP_005261126.1:p.Asp84AlafsTer?
XM_011529766.2:c.249_250dup	XP_011528068.1:p.Asp84AlafsTer?
XM_011529767.2:c.210_211dup	XP_011528069.1:p.Asp71AlafsTer?
XM_011529768.2:c.210_211dup	XP_011528070.1:p.Asp71AlafsTer?
XM_011529770.2:c.249_250dup	XP_011528072.1:p.Asp84AlafsTer?
XM_017028487.1:c.96_97dup	XP_016883976.1:p.Asp33AlafsTer?
XR_937576.2:n.475_476dup
NM_001001890.3:c.168_169dup	NP_001001890.1:p.Asp57AlafsTer?
NM_001122607.2:c.168_169dup	NP_001116079.1:p.Asp57AlafsTer?
NM_001754.5:c.249_250dup MANE Select	NP_001745.2:p.Asp84AlafsTer?