Canonical Allele Identifier: CA645607435
Gene: RUNX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34886898_34886902dup , CM000683.2:g.34886898_34886902dup GRCh38
NC_000021.8:g.36259195_36259199dup , CM000683.1:g.36259195_36259199dup GRCh37
NC_000021.7:g.35181065_35181069dup NCBI36
NG_011402.2:g.1102813_1102817dup , LRG_482:g.1102813_1102817dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.295_299dup MANE Select ENSP00000501943.1:p.Val101AlafsTer23
ENST00000300305.7:c.295_299dup ENSP00000300305.3:p.Val101AlafsTer23
ENST00000344691.8:c.214_218dup ENSP00000340690.4:p.Val74AlafsTer23
ENST00000358356.9:c.214_218dup ENSP00000351123.5:p.Val74AlafsTer23
ENST00000399237.6:c.259_263dup ENSP00000382182.2:p.Val89AlafsTer23
ENST00000399240.5:c.214_218dup ENSP00000382184.1:p.Val74AlafsTer23
ENST00000437180.5:c.295_299dup ENSP00000409227.1:p.Val101AlafsTer23
ENST00000455571.5:c.256_260dup ENSP00000388189.1:p.Val88AlafsTer23
ENST00000482318.5:c.59-6186_59-6182dup ENSP00000477067.1:n.59-6186_59-6182dup
NM_001001890.2:c.214_218dup NP_001001890.1:p.Val74AlafsTer23
NM_001122607.1:c.214_218dup NP_001116079.1:p.Val74AlafsTer23
NM_001754.4:c.295_299dup , LRG_482t1:c.295_299dup NP_001745.2:p.Val101AlafsTer23
XM_005261068.3:c.259_263dup XP_005261125.1:p.Val89AlafsTer23
XM_005261069.3:c.295_299dup XP_005261126.1:p.Val101AlafsTer23
XM_011529766.1:c.295_299dup XP_011528068.1:p.Val101AlafsTer23
XM_011529767.1:c.256_260dup XP_011528069.1:p.Val88AlafsTer23
XM_011529768.1:c.256_260dup XP_011528070.1:p.Val88AlafsTer23
XM_011529770.1:c.295_299dup XP_011528072.1:p.Val101AlafsTer23
XR_937576.1:n.474_478dup
XM_005261069.4:c.295_299dup XP_005261126.1:p.Val101AlafsTer23
XM_011529766.2:c.295_299dup XP_011528068.1:p.Val101AlafsTer23
XM_011529767.2:c.256_260dup XP_011528069.1:p.Val88AlafsTer23
XM_011529768.2:c.256_260dup XP_011528070.1:p.Val88AlafsTer23
XM_011529770.2:c.295_299dup XP_011528072.1:p.Val101AlafsTer23
XM_017028487.1:c.142_146dup XP_016883976.1:p.Val50AlafsTer23
XR_937576.2:n.521_525dup
NM_001001890.3:c.214_218dup NP_001001890.1:p.Val74AlafsTer23
NM_001122607.2:c.214_218dup NP_001116079.1:p.Val74AlafsTer23
NM_001754.5:c.295_299dup MANE Select NP_001745.2:p.Val101AlafsTer23