Canonical Allele Identifier: CA915950425
Gene: HOXB13 HGNC NCBI

Linked Data

ClinVar Variation Id: 690716
ClinVar RCV Id: RCV000856019
dbSNP Id: rs1597934438
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728249_48728250insT , CM000679.2:g.48728249_48728250insT GRCh38
NC_000017.10:g.46805611_46805612insT , CM000679.1:g.46805611_46805612insT GRCh37
NC_000017.9:g.44160610_44160611insT NCBI36
NG_033789.1:g.5500_5501insA , LRG_771:g.5500_5501insA

Transcript Alleles

HGVS Amino-acid change
ENST00000290295.8:c.344_345insA MANE Select ENSP00000290295.8:p.Ala116GlyfsTer11
ENST00000290295.7:c.344_345insA ENSP00000290295.7:p.Ala116GlyfsTer11
NM_006361.5:c.344_345insA , LRG_771t1:c.344_345insA NP_006352.2:p.Ala116GlyfsTer11
NM_006361.6:c.344_345insA MANE Select NP_006352.2:p.Ala116GlyfsTer11
Search 100 bp 5'
Search 100 bp 3'