Canonical Allele Identifier: CA2740094480
Gene: PDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 3014800
ClinVar RCV Id: RCV003878423

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58430668del , CM000665.2:g.58430668del GRCh38
NC_000003.11:g.58416395del , CM000665.1:g.58416395del GRCh37
NC_000003.10:g.58391435del NCBI36
NG_016860.1:g.8185del

Transcript Alleles

HGVS Amino-acid Change
ENST00000302746.11:c.578del MANE Select ENSP00000307241.6:p.Asp193ValfsTer8
ENST00000302746.10:c.578del ENSP00000307241.6:p.Asp193ValfsTer8
ENST00000383714.8:c.524del ENSP00000373220.4:p.Asp175ValfsTer8
ENST00000461692.5:n.691del
ENST00000469364.5:c.578del ENSP00000419580.1:p.Asp193ValfsTer8
ENST00000474765.1:c.524del ENSP00000418448.1:p.Asp175ValfsTer8
ENST00000479945.1:n.2983del
ENST00000480626.5:n.670del
ENST00000485460.5:c.524del ENSP00000417267.1:p.Asp175ValfsTer8
NM_000925.3:c.578del NP_000916.2:p.Asp193ValfsTer8
NM_001173468.1:c.524del NP_001166939.1:p.Asp175ValfsTer8
NM_001315536.1:c.524del NP_001302465.1:p.Asp175ValfsTer8
NR_033384.1:n.691del
NM_000925.4:c.578del MANE Select NP_000916.2:p.Asp193ValfsTer8
NM_001173468.2:c.524del NP_001166939.1:p.Asp175ValfsTer8
NM_001315536.2:c.524del NP_001302465.1:p.Asp175ValfsTer8
NR_033384.2:n.684del