Canonical Allele Identifier: CA1367631268

Gene: PDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430627_58430628delinsCA , CM000665.2:g.58430627_58430628delinsCA	GRCh38
NC_000003.11:g.58416354_58416355delinsCA , CM000665.1:g.58416354_58416355delinsCA	GRCh37
NC_000003.10:g.58391394_58391395delinsCA	NCBI36
NG_016860.1:g.8225_8226delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.589+29_589+30delinsTG MANE Select	ENSP00000307241.6:n.589+29_589+30delinsTG
ENST00000302746.10:c.589+29_589+30delinsTG	ENSP00000307241.6:n.589+29_589+30delinsTG
ENST00000383714.8:c.535+29_535+30delinsTG	ENSP00000373220.4:n.535+29_535+30delinsTG
ENST00000461692.5:n.702+29_702+30delinsTG
ENST00000469364.5:c.589+29_589+30delinsTG	ENSP00000419580.1:n.589+29_589+30delinsTG
ENST00000474765.1:c.535+29_535+30delinsTG	ENSP00000418448.1:n.535+29_535+30delinsTG
ENST00000479945.1:n.2994+29_2994+30delinsTG
ENST00000480626.5:n.681+29_681+30delinsTG
ENST00000485460.5:c.535+29_535+30delinsTG	ENSP00000417267.1:n.535+29_535+30delinsTG
NM_000925.3:c.589+29_589+30delinsTG	NP_000916.2:n.589+29_589+30delinsTG
NM_001173468.1:c.535+29_535+30delinsTG	NP_001166939.1:n.535+29_535+30delinsTG
NM_001315536.1:c.535+29_535+30delinsTG	NP_001302465.1:n.535+29_535+30delinsTG
NR_033384.1:n.702+29_702+30delinsTG
NM_000925.4:c.589+29_589+30delinsTG MANE Select	NP_000916.2:n.589+29_589+30delinsTG
NM_001173468.2:c.535+29_535+30delinsTG	NP_001166939.1:n.535+29_535+30delinsTG
NM_001315536.2:c.535+29_535+30delinsTG	NP_001302465.1:n.535+29_535+30delinsTG
NR_033384.2:n.695+29_695+30delinsTG