Canonical Allele Identifier: CA299235

Gene: HOXB13

Linked Data

• ClinVar Variation Id: 182506
• ClinVar RCV Id: RCV000160509 ; RCV000766332 ; RCV001844057 ; RCV003390858
• dbSNP Id: rs77179853
• ExAC: 17:46804153 TA / T
• gnomAD v2: 17-46804153-TA-T
• gnomAD v3: 17-48726791-TA-T
• gnomAD v4: 17-48726791-TA-T
• MyVariant Identifiers: chr17:g.46804154del (hg19) ; chr17:g.48726793del (hg38) ; chr17:g.48726792del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48726793del , CM000679.2:g.48726793del	GRCh38
NC_000017.10:g.46804155del , CM000679.1:g.46804155del	GRCh37
NC_000017.9:g.44159154del	NCBI36
NG_033789.1:g.6958del , LRG_771:g.6958del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290295.8:c.853del MANE Select	ENSP00000290295.8:p.Ter285LysextTer?
ENST00000290295.7:c.853del	ENSP00000290295.7:p.Ter285LysextTer?
NM_006361.5:c.853del , LRG_771t1:c.853del	NP_006352.2:p.Ter285LysextTer?
NM_006361.6:c.853del MANE Select	NP_006352.2:p.Ter285LysextTer?