Canonical Allele Identifier: CA215011

Gene: HMGB3

Linked Data

• ClinVar Variation Id: 140456
• ClinVar RCV Id: RCV000083250 ; RCV000128635
• dbSNP Id: rs431825172
• gnomAD v4: X-150987788-C-CTA
• MyVariant Identifiers: chrX:g.150156264_150156265dupTA (hg19) ; chrX:g.150156261_150156262insTA (hg19) ; chrX:g.150987791_150987792dupTA (hg38) ; chrX:g.150987788_150987789insTA (hg38)
• PubMed: PMID:4998085 ; PMID:24993872

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150987791_150987792dup , CM000685.2:g.150987791_150987792dup	GRCh38
NC_000023.10:g.150156264_150156265dup , CM000685.1:g.150156264_150156265dup	GRCh37
NC_000023.9:g.149906922_149906923dup	NCBI36
NG_034209.1:g.12284_12285dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325307.12:c.480_481dup MANE Select	ENSP00000359393.3:p.Lys161IlefsTer?
ENST00000325307.11:c.480_481dup	ENSP00000359393.3:p.Lys161IlefsTer?
ENST00000419110.5:c.480_481dup	ENSP00000410354.1:p.Lys161IlefsTer?
ENST00000448905.6:c.480_481dup	ENSP00000442758.1:p.Lys161IlefsTer?
ENST00000455596.5:c.480_481dup	ENSP00000405601.1:p.Lys161IlefsTer?
NM_001301228.1:c.480_481dup	NP_001288157.1:p.Lys161IlefsTer?
NM_001301229.1:c.480_481dup	NP_001288158.1:p.Lys161IlefsTer?
NM_001301231.1:c.540_541dup	NP_001288160.1:p.Lys181IlefsTer?
NM_005342.3:c.480_481dup	NP_005333.2:p.Lys161IlefsTer?
XM_024452369.1:c.480_481dup	XP_024308137.1:p.Lys161IlefsTer?
NM_005342.4:c.480_481dup MANE Select	NP_005333.2:p.Lys161IlefsTer?
NM_001301229.2:c.480_481dup	NP_001288158.1:p.Lys161IlefsTer?
NM_001301231.2:c.540_541dup	NP_001288160.1:p.Lys181IlefsTer?
NM_001301228.2:c.480_481dup	NP_001288157.1:p.Lys161IlefsTer?