Canonical Allele Identifier: CA325476
Gene: PDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 217513
ClinVar RCV Id: RCV000201521
dbSNP Id: rs863225125
MyVariant Identifiers: chr3:g.58417313_58417323del (hg19) chr3:g.58431586_58431596del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58431586_58431596del , CM000665.2:g.58431586_58431596del GRCh38
NC_000003.11:g.58417313_58417323del , CM000665.1:g.58417313_58417323del GRCh37
NC_000003.10:g.58392353_58392363del NCBI36
NG_016860.1:g.7257_7267del

Transcript Alleles

HGVS Amino-acid change
ENST00000302746.11:c.300_303+7del
ENST00000302746.10:c.300_303+7del
ENST00000383714.8:c.246_249+7del
ENST00000461692.5:n.413_416+7del
ENST00000469364.5:c.300_303+7del
ENST00000469827.1:n.422_432del
ENST00000474765.1:c.246_249+7del
ENST00000479945.1:n.2055_2065del
ENST00000480626.5:n.392_395+7del
ENST00000482894.5:n.319_329del
ENST00000485460.5:c.300_303+7del
NM_000925.3:c.300_303+7del
NM_001173468.1:c.300_303+7del
NM_001315536.1:c.246_249+7del
NR_033384.1:n.413_416+7del
NM_000925.4:c.300_303+7del
NM_001173468.2:c.300_303+7del
NM_001315536.2:c.246_249+7del
NR_033384.2:n.406_409+7del
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