Canonical Allele Identifier: CA2666297907

Gene: PDHB

Linked Data

• gnomAD v4: 3-58430691-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430693del , CM000665.2:g.58430693del	GRCh38
NC_000003.11:g.58416420del , CM000665.1:g.58416420del	GRCh37
NC_000003.10:g.58391460del	NCBI36
NG_016860.1:g.8161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.554del MANE Select	ENSP00000307241.6:p.Gly185AspfsTer16
ENST00000302746.10:c.554del	ENSP00000307241.6:p.Gly185AspfsTer16
ENST00000383714.8:c.500del	ENSP00000373220.4:p.Gly167AspfsTer16
ENST00000461692.5:n.667del
ENST00000469364.5:c.554del	ENSP00000419580.1:p.Gly185AspfsTer16
ENST00000474765.1:c.500del	ENSP00000418448.1:p.Gly167AspfsTer16
ENST00000479945.1:n.2959del
ENST00000480626.5:n.646del
ENST00000485460.5:c.500del	ENSP00000417267.1:p.Gly167AspfsTer16
NM_000925.3:c.554del	NP_000916.2:p.Gly185AspfsTer16
NM_001173468.1:c.500del	NP_001166939.1:p.Gly167AspfsTer16
NM_001315536.1:c.500del	NP_001302465.1:p.Gly167AspfsTer16
NR_033384.1:n.667del
NM_000925.4:c.554del MANE Select	NP_000916.2:p.Gly185AspfsTer16
NM_001173468.2:c.500del	NP_001166939.1:p.Gly167AspfsTer16
NM_001315536.2:c.500del	NP_001302465.1:p.Gly167AspfsTer16
NR_033384.2:n.660del