Canonical Allele Identifier: CA2580098645
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2029556
ClinVar RCV Id: RCV002863808
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880642_34880643insCTTTTATTCCGATTCCCCTTGTCCGAAGGTAT , CM000683.2:g.34880642_34880643insCTTTTATTCCGATTCCCCTTGTCCGAAGGTAT GRCh38
NC_000021.8:g.36252939_36252940insCTTTTATTCCGATTCCCCTTGTCCGAAGGTAT , CM000683.1:g.36252939_36252940insCTTTTATTCCGATTCCCCTTGTCCGAAGGTAT GRCh37
NC_000021.7:g.35174809_35174810insCTTTTATTCCGATTCCCCTTGTCCGAAGGTAT NCBI36
NG_011402.2:g.1109069_1109070insATACCTTCGGACAAGGGGAATCGGAATAAAAG , LRG_482:g.1109069_1109070insATACCTTCGGACAAGGGGAATCGGAATAAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG MANE Select ENSP00000501943.1:p.Ala142TyrfsTer14
ENST00000300305.7:c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG ENSP00000300305.3:p.Ala142TyrfsTer14
ENST00000344691.8:c.341_342insATACCTTCGGACAAGGGGAATCGGAATAAAAG ENSP00000340690.4:p.Ala115TyrfsTer14
ENST00000358356.9:c.341_342insATACCTTCGGACAAGGGGAATCGGAATAAAAG ENSP00000351123.5:p.Ala115TyrfsTer14
ENST00000399237.6:c.386_387insATACCTTCGGACAAGGGGAATCGGAATAAAAG ENSP00000382182.2:p.Ala130TyrfsTer14
ENST00000399240.5:c.341_342insATACCTTCGGACAAGGGGAATCGGAATAAAAG ENSP00000382184.1:p.Ala115TyrfsTer14
ENST00000437180.5:c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG ENSP00000409227.1:p.Ala142TyrfsTer14
ENST00000455571.5:c.383_384insATACCTTCGGACAAGGGGAATCGGAATAAAAG ENSP00000388189.1:p.Ala129TyrfsTer14
ENST00000482318.5:c.*12_*13insATACCTTCGGACAAGGGGAATCGGAATAAAAG ENSP00000477067.1:n.*12_*13insATACCTTCGGACAAGGGGAATCGGAATAAAA...
NM_001001890.2:c.341_342insATACCTTCGGACAAGGGGAATCGGAATAAAAG NP_001001890.1:p.Ala115TyrfsTer14
NM_001122607.1:c.341_342insATACCTTCGGACAAGGGGAATCGGAATAAAAG NP_001116079.1:p.Ala115TyrfsTer14
NM_001754.4:c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG , LRG_482t1:c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG NP_001745.2:p.Ala142TyrfsTer14
XM_005261068.3:c.386_387insATACCTTCGGACAAGGGGAATCGGAATAAAAG XP_005261125.1:p.Ala130TyrfsTer14
XM_005261069.3:c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG XP_005261126.1:p.Ala142TyrfsTer14
XM_011529766.1:c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG XP_011528068.1:p.Ala142TyrfsTer14
XM_011529767.1:c.383_384insATACCTTCGGACAAGGGGAATCGGAATAAAAG XP_011528069.1:p.Ala129TyrfsTer14
XM_011529768.1:c.383_384insATACCTTCGGACAAGGGGAATCGGAATAAAAG XP_011528070.1:p.Ala129TyrfsTer14
XM_011529770.1:c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG XP_011528072.1:p.Ala142TyrfsTer14
XR_937576.1:n.601_602insATACCTTCGGACAAGGGGAATCGGAATAAAAG
XM_005261069.4:c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG XP_005261126.1:p.Ala142TyrfsTer14
XM_011529766.2:c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG XP_011528068.1:p.Ala142TyrfsTer14
XM_011529767.2:c.383_384insATACCTTCGGACAAGGGGAATCGGAATAAAAG XP_011528069.1:p.Ala129TyrfsTer14
XM_011529768.2:c.383_384insATACCTTCGGACAAGGGGAATCGGAATAAAAG XP_011528070.1:p.Ala129TyrfsTer14
XM_011529770.2:c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG XP_011528072.1:p.Ala142TyrfsTer14
XM_017028487.1:c.269_270insATACCTTCGGACAAGGGGAATCGGAATAAAAG XP_016883976.1:p.Ala91TyrfsTer14
XR_937576.2:n.648_649insATACCTTCGGACAAGGGGAATCGGAATAAAAG
NM_001001890.3:c.341_342insATACCTTCGGACAAGGGGAATCGGAATAAAAG NP_001001890.1:p.Ala115TyrfsTer14
NM_001122607.2:c.341_342insATACCTTCGGACAAGGGGAATCGGAATAAAAG NP_001116079.1:p.Ala115TyrfsTer14
NM_001754.5:c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG MANE Select NP_001745.2:p.Ala142TyrfsTer14
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