Canonical Allele Identifier: CA658799414

Gene: RUNX1

Linked Data

• ClinVar Variation Id: 517187
• ClinVar RCV Id: RCV000604719 ; RCV002528765
• dbSNP Id: rs1555899933
• gnomAD v4: 21-34887113-CACA-C
• MyVariant Identifiers: chr21:g.36259411_36259413del (hg19) ; chr21:g.34887114_34887116del (hg38)
• ERepo: CA658799414/MONDO:0011071/008

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34887118_34887120del , CM000683.2:g.34887118_34887120del	GRCh38
NC_000021.8:g.36259415_36259417del , CM000683.1:g.36259415_36259417del	GRCh37
NC_000021.7:g.35181285_35181287del	NCBI36
NG_011402.2:g.1102596_1102598del , LRG_482:g.1102596_1102598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.98-20_98-18del MANE Select	ENSP00000501943.1:n.98-20_98-18del
ENST00000300305.7:c.98-20_98-18del	ENSP00000300305.3:n.98-20_98-18del
ENST00000344691.8:c.-4_-2del	ENSP00000340690.4:n.-4_-2del
ENST00000358356.9:c.-4_-2del	ENSP00000351123.5:n.-4_-2del
ENST00000399237.6:c.62-20_62-18del	ENSP00000382182.2:n.62-20_62-18del
ENST00000399240.5:c.-4_-2del	ENSP00000382184.1:n.-4_-2del
ENST00000437180.5:c.98-20_98-18del	ENSP00000409227.1:n.98-20_98-18del
ENST00000455571.5:c.59-20_59-18del	ENSP00000388189.1:n.59-20_59-18del
ENST00000475045.6:c.98-20_98-18del	ENSP00000477072.1:n.98-20_98-18del
ENST00000482318.5:c.59-6403_59-6401del	ENSP00000477067.1:n.59-6403_59-6401del
NM_001001890.2:c.-4_-2del	NP_001001890.1:n.-4_-2del
NM_001122607.1:c.-4_-2del	NP_001116079.1:n.-4_-2del
NM_001754.4:c.98-20_98-18del , LRG_482t1:c.98-20_98-18del	NP_001745.2:n.98-20_98-18del
XM_005261068.3:c.62-20_62-18del	XP_005261125.1:n.62-20_62-18del
XM_005261069.3:c.98-20_98-18del	XP_005261126.1:n.98-20_98-18del
XM_011529766.1:c.98-20_98-18del	XP_011528068.1:n.98-20_98-18del
XM_011529767.1:c.59-20_59-18del	XP_011528069.1:n.59-20_59-18del
XM_011529768.1:c.59-20_59-18del	XP_011528070.1:n.59-20_59-18del
XM_011529770.1:c.98-20_98-18del	XP_011528072.1:n.98-20_98-18del
XR_937576.1:n.277-20_277-18del
XM_005261069.4:c.98-20_98-18del	XP_005261126.1:n.98-20_98-18del
XM_011529766.2:c.98-20_98-18del	XP_011528068.1:n.98-20_98-18del
XM_011529767.2:c.59-20_59-18del	XP_011528069.1:n.59-20_59-18del
XM_011529768.2:c.59-20_59-18del	XP_011528070.1:n.59-20_59-18del
XM_011529770.2:c.98-20_98-18del	XP_011528072.1:n.98-20_98-18del
XM_017028487.1:c.-56-20_-56-18del	XP_016883976.1:n.-56-20_-56-18del
XR_937576.2:n.324-20_324-18del
NM_001001890.3:c.-4_-2del	NP_001001890.1:n.-4_-2del
NM_001122607.2:c.-4_-2del	NP_001116079.1:n.-4_-2del
NM_001754.5:c.98-20_98-18del MANE Select	NP_001745.2:n.98-20_98-18del