Canonical Allele Identifier: CA2825002848
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3068261
ClinVar RCV Id: RCV003991941

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880598_34880600dup , CM000683.2:g.34880598_34880600dup GRCh38
NC_000021.8:g.36252895_36252897dup , CM000683.1:g.36252895_36252897dup GRCh37
NC_000021.7:g.35174765_35174767dup NCBI36
NG_011402.2:g.1109112_1109114dup , LRG_482:g.1109112_1109114dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.465_467dup MANE Select ENSP00000501943.1:p.Ala156_Arg157insAla
ENST00000300305.7:c.465_467dup ENSP00000300305.3:p.Ala156_Arg157insAla
ENST00000344691.8:c.384_386dup ENSP00000340690.4:p.Ala129_Arg130insAla
ENST00000358356.9:c.384_386dup ENSP00000351123.5:p.Ala129_Arg130insAla
ENST00000399237.6:c.429_431dup ENSP00000382182.2:p.Ala144_Arg145insAla
ENST00000399240.5:c.384_386dup ENSP00000382184.1:p.Ala129_Arg130insAla
ENST00000437180.5:c.465_467dup ENSP00000409227.1:p.Ala156_Arg157insAla
ENST00000482318.5:c.*55_*57dup ENSP00000477067.1:n.*55_*57dup
NM_001001890.2:c.384_386dup NP_001001890.1:p.Ala129_Arg130insAla
NM_001122607.1:c.384_386dup NP_001116079.1:p.Ala129_Arg130insAla
NM_001754.4:c.465_467dup , LRG_482t1:c.465_467dup NP_001745.2:p.Ala156_Arg157insAla
XM_005261068.3:c.429_431dup XP_005261125.1:p.Ala144_Arg145insAla
XM_005261069.3:c.465_467dup XP_005261126.1:p.Ala156_Arg157insAla
XM_011529766.1:c.465_467dup XP_011528068.1:p.Ala156_Arg157insAla
XM_011529767.1:c.426_428dup XP_011528069.1:p.Ala143_Arg144insAla
XM_011529768.1:c.426_428dup XP_011528070.1:p.Ala143_Arg144insAla
XM_011529770.1:c.465_467dup XP_011528072.1:p.Ala156_Arg157insAla
XR_937576.1:n.644_646dup
XM_005261069.4:c.465_467dup XP_005261126.1:p.Ala156_Arg157insAla
XM_011529766.2:c.465_467dup XP_011528068.1:p.Ala156_Arg157insAla
XM_011529767.2:c.426_428dup XP_011528069.1:p.Ala143_Arg144insAla
XM_011529768.2:c.426_428dup XP_011528070.1:p.Ala143_Arg144insAla
XM_011529770.2:c.465_467dup XP_011528072.1:p.Ala156_Arg157insAla
XM_017028487.1:c.312_314dup XP_016883976.1:p.Ala105_Arg106insAla
XR_937576.2:n.691_693dup
NM_001001890.3:c.384_386dup NP_001001890.1:p.Ala129_Arg130insAla
NM_001122607.2:c.384_386dup NP_001116079.1:p.Ala129_Arg130insAla
NM_001754.5:c.465_467dup MANE Select NP_001745.2:p.Ala156_Arg157insAla