Canonical Allele Identifier: CA2387254395
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1022622
ClinVar RCV Id: RCV001322557
dbSNP Id: rs2056453065
gnomAD v4: 21-34792342-G-GCCGGCC
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792343_34792348dup , CM000683.2:g.34792343_34792348dup GRCh38
NC_000021.8:g.36164640_36164645dup , CM000683.1:g.36164640_36164645dup GRCh37
NC_000021.7:g.35086510_35086515dup NCBI36
NG_011402.2:g.1197364_1197369dup , LRG_482:g.1197364_1197369dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.1230_1235dup MANE Select ENSP00000501943.1:p.Gly412_Ser413insAlaGly
ENST00000300305.7:c.1230_1235dup ENSP00000300305.3:p.Gly412_Ser413insAlaGly
ENST00000344691.8:c.1149_1154dup ENSP00000340690.4:p.Gly385_Ser386insAlaGly
ENST00000399240.5:c.957_962dup ENSP00000382184.1:p.Gly321_Ser322insAlaGly
ENST00000437180.5:c.1230_1235dup ENSP00000409227.1:p.Gly412_Ser413insAlaGly
ENST00000482318.5:c.*820_*825dup ENSP00000477067.1:n.*820_*825dup
NM_001001890.2:c.1149_1154dup NP_001001890.1:p.Gly385_Ser386insAlaGly
NM_001754.4:c.1230_1235dup , LRG_482t1:c.1230_1235dup NP_001745.2:p.Gly412_Ser413insAlaGly
XM_005261068.3:c.1194_1199dup XP_005261125.1:p.Gly400_Ser401insAlaGly
XM_005261069.3:c.1038_1043dup XP_005261126.1:p.Gly348_Ser349insAlaGly
XM_011529766.1:c.1230_1235dup XP_011528068.1:p.Gly412_Ser413insAlaGly
XM_011529767.1:c.1191_1196dup XP_011528069.1:p.Gly399_Ser400insAlaGly
XM_011529768.1:c.999_1004dup XP_011528070.1:p.Gly335_Ser336insAlaGly
XM_005261069.4:c.1038_1043dup XP_005261126.1:p.Gly348_Ser349insAlaGly
XM_011529766.2:c.1230_1235dup XP_011528068.1:p.Gly412_Ser413insAlaGly
XM_011529767.2:c.1191_1196dup XP_011528069.1:p.Gly399_Ser400insAlaGly
XM_011529768.2:c.999_1004dup XP_011528070.1:p.Gly335_Ser336insAlaGly
XM_017028487.1:c.1077_1082dup XP_016883976.1:p.Gly361_Ser362insAlaGly
NM_001001890.3:c.1149_1154dup NP_001001890.1:p.Gly385_Ser386insAlaGly
NM_001754.5:c.1230_1235dup MANE Select NP_001745.2:p.Gly412_Ser413insAlaGly
Search 100 bp 5'
Search 100 bp 3'