Canonical Allele Identifier: CA2263242520
Gene: HOXB13 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728234_48728255delinsGTACTCTTCCCCGGCCGTGGGA , CM000679.2:g.48728234_48728255delinsGTACTCTTCCCCGGCCGTGGGA GRCh38
NC_000017.10:g.46805596_46805617delinsGTACTCTTCCCCGGCCGTGGGA , CM000679.1:g.46805596_46805617delinsGTACTCTTCCCCGGCCGTGGGA GRCh37
NC_000017.9:g.44160595_44160616delinsGTACTCTTCCCCGGCCGTGGGA NCBI36
NG_033789.1:g.5495_5516delinsTCCCACGGCCGGGGAAGAGTAC , LRG_771:g.5495_5516delinsTCCCACGGCCGGGGAAGAGTAC

Transcript Alleles

HGVS Amino-acid change
ENST00000290295.8:c.339_360delinsTCCCACGGCCGGGGAAGAGTAC MANE Select ENSP00000290295.8:p.Thr113=
ENST00000290295.7:c.339_360delinsTCCCACGGCCGGGGAAGAGTAC ENSP00000290295.7:p.Thr113=
NM_006361.5:c.339_360delinsTCCCACGGCCGGGGAAGAGTAC , LRG_771t1:c.339_360delinsTCCCACGGCCGGGGAAGAGTAC NP_006352.2:p.Thr113=
NM_006361.6:c.339_360delinsTCCCACGGCCGGGGAAGAGTAC MANE Select NP_006352.2:p.Thr113=
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