Canonical Allele Identifier: CA908654909

Gene: PDHB

Linked Data

• dbSNP Id: rs1438518070
• MyVariant Identifiers: chr3:g.58416538del (hg19) ; chr3:g.58430811del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430811del , CM000665.2:g.58430811del	GRCh38
NC_000003.11:g.58416538del , CM000665.1:g.58416538del	GRCh37
NC_000003.10:g.58391578del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.435del MANE Select	ENSP00000307241.6:p.Asn148MetfsTer7
ENST00000302746.10:c.435del	ENSP00000307241.6:p.Asn148MetfsTer7
ENST00000383714.8:c.381del	ENSP00000373220.4:p.Asn130MetfsTer7
ENST00000461692.5:n.548del
ENST00000469364.5:c.435del	ENSP00000419580.1:p.Asn148MetfsTer7
ENST00000474765.1:c.381del	ENSP00000418448.1:p.Asn130MetfsTer7
ENST00000479945.1:n.2840del
ENST00000480626.5:n.527del
ENST00000485460.5:c.404-23del	ENSP00000417267.1:n.404-23del
NM_001173468.1:c.404-23del	NP_001166939.1:n.404-23del
NM_000925.4:c.435del MANE Select	NP_000916.2:p.Asn148MetfsTer7
NM_001173468.2:c.404-23del	NP_001166939.1:n.404-23del
NM_001315536.2:c.381del	NP_001302465.1:p.Asn130MetfsTer7
NR_033384.2:n.541del