Canonical Allele Identifier: CA2809725998
Gene: HOXB13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728247_48728250dup , CM000679.2:g.48728247_48728250dup GRCh38
NC_000017.10:g.46805609_46805612dup , CM000679.1:g.46805609_46805612dup GRCh37
NC_000017.9:g.44160608_44160611dup NCBI36
NG_033789.1:g.5503_5506dup , LRG_771:g.5503_5506dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000290295.8:c.347_350dup MANE Select ENSP00000290295.8:p.Glu118ArgfsTer10
ENST00000290295.7:c.347_350dup ENSP00000290295.7:p.Glu118ArgfsTer10
NM_006361.5:c.347_350dup , LRG_771t1:c.347_350dup NP_006352.2:p.Glu118ArgfsTer10
NM_006361.6:c.347_350dup MANE Select NP_006352.2:p.Glu118ArgfsTer10