Canonical Allele Identifier: CA637749766
Community Standard Title: NM_001754.5(RUNX1):c.-60+52dup
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.35049130dup , CM000683.2:g.35049130dup GRCh38
NC_000021.8:g.36421427dup , CM000683.1:g.36421427dup GRCh37
NC_000021.7:g.35343297dup NCBI36
NG_011402.2:g.940596dup , LRG_482:g.940596dup

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.-60+52dup MANE Select NP_001745.2:n.-60+52dup
ENST00000675419.1:c.-60+52dup MANE Select ENSP00000501943.1:n.-60+52dup
NM_001754.4:c.-60+52dup , LRG_482t1:c.-60+52dup NP_001745.2:n.-60+52dup
ENST00000300305.7:c.-217dup ENSP00000300305.3:n.-217dup
ENST00000416754.1:c.-95dup ENSP00000405158.1:n.-95dup
ENST00000437180.5:c.-60+52dup ENSP00000409227.1:n.-60+52dup
ENST00000455571.5:c.-60+52dup ENSP00000388189.1:n.-60+52dup
ENST00000475045.6:c.-59-158dup ENSP00000477072.1:n.-59-158dup
ENST00000482318.5:c.-60+52dup ENSP00000477067.1:n.-60+52dup
XM_005261069.3:c.-60+52dup XP_005261126.1:n.-60+52dup
XM_005261069.4:c.-60+52dup XP_005261126.1:n.-60+52dup
XM_011529766.1:c.-95dup XP_011528068.1:n.-95dup
XM_011529766.2:c.-95dup XP_011528068.1:n.-95dup
XM_011529767.1:c.-60+52dup XP_011528069.1:n.-60+52dup
XM_011529767.2:c.-60+52dup XP_011528069.1:n.-60+52dup
XM_011529768.1:c.-60+52dup XP_011528070.1:n.-60+52dup
XM_011529768.2:c.-60+52dup XP_011528070.1:n.-60+52dup
XM_011529770.1:c.-60+52dup XP_011528072.1:n.-60+52dup
XM_011529770.2:c.-60+52dup XP_011528072.1:n.-60+52dup
XR_937576.1:n.120+52dup
XR_937576.2:n.167+52dup