Canonical Allele Identifier: CA2263242627
Gene: HOXB13 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728359_48728360delinsGC , CM000679.2:g.48728359_48728360delinsGC GRCh38
NC_000017.10:g.46805721_46805722delinsGC , CM000679.1:g.46805721_46805722delinsGC GRCh37
NC_000017.9:g.44160720_44160721delinsGC NCBI36
NG_033789.1:g.5390_5391delinsGC , LRG_771:g.5390_5391delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000290295.8:c.234_235delinsGC MANE Select ENSP00000290295.8:p.Val78=
ENST00000290295.7:c.234_235delinsGC ENSP00000290295.7:p.Val78=
NM_006361.5:c.234_235delinsGC , LRG_771t1:c.234_235delinsGC NP_006352.2:p.Val78=
NM_006361.6:c.234_235delinsGC MANE Select NP_006352.2:p.Val78=
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