Canonical Allele Identifier: CA10650422
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 339837
ClinVar RCV Id: RCV000315678 RCV001195658
dbSNP Id: rs201214658
gnomAD v2: 21-36162230-G-GA
gnomAD v3: 21-34789933-G-GA
gnomAD v4: 21-34789933-G-GA
MyVariant Identifiers: chr21:g.36162231dupA (hg19) chr21:g.36162231_36162232insA (hg19) chr21:g.36162230_36162231insA (hg19) chr21:g.34789934dupA (hg38) chr21:g.34789934_34789935insA (hg38) chr21:g.34789933_34789934insA (hg38)
ERepo: CA10650422/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34789941dup , CM000683.2:g.34789941dup GRCh38
NC_000021.8:g.36162238dup , CM000683.1:g.36162238dup GRCh37
NC_000021.7:g.35084108dup NCBI36
NG_011402.2:g.1199778dup , LRG_482:g.1199778dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.*2201dup MANE Select ENSP00000501943.1:n.*2201dup
ENST00000300305.7:c.*2201dup ENSP00000300305.3:n.*2201dup
ENST00000344691.8:c.*2201dup ENSP00000340690.4:n.*2201dup
ENST00000437180.5:c.*2201dup ENSP00000409227.1:n.*2201dup
NM_001001890.2:c.*2201dup NP_001001890.1:n.*2201dup
NM_001754.4:c.*2201dup , LRG_482t1:c.*2201dup NP_001745.2:n.*2201dup
XM_005261068.3:c.*2201dup XP_005261125.1:n.*2201dup
XM_005261069.3:c.*2201dup XP_005261126.1:n.*2201dup
XM_011529766.1:c.*2201dup XP_011528068.1:n.*2201dup
XM_011529767.1:c.*2201dup XP_011528069.1:n.*2201dup
XM_011529768.1:c.*2201dup XP_011528070.1:n.*2201dup
XM_005261069.4:c.*2201dup XP_005261126.1:n.*2201dup
XM_011529766.2:c.*2201dup XP_011528068.1:n.*2201dup
XM_011529767.2:c.*2201dup XP_011528069.1:n.*2201dup
XM_011529768.2:c.*2201dup XP_011528070.1:n.*2201dup
XM_017028487.1:c.*2201dup XP_016883976.1:n.*2201dup
NM_001001890.3:c.*2201dup NP_001001890.1:n.*2201dup
NM_001754.5:c.*2201dup MANE Select NP_001745.2:n.*2201dup
Search 100 bp 5'
Search 100 bp 3'