Canonical Allele Identifier: CA1367631405

Gene: PDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430997_58431001delinsGCAAA , CM000665.2:g.58430997_58431001delinsGCAAA	GRCh38
NC_000003.11:g.58416724_58416728delinsGCAAA , CM000665.1:g.58416724_58416728delinsGCAAA	GRCh37
NC_000003.10:g.58391764_58391768delinsGCAAA	NCBI36
NG_016860.1:g.7852_7856delinsTTTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.304-59_304-55delinsTTTGC MANE Select	ENSP00000307241.6:n.304-59_304-55delinsTTTGC
ENST00000302746.10:c.304-59_304-55delinsTTTGC	ENSP00000307241.6:n.304-59_304-55delinsTTTGC
ENST00000383714.8:c.250-59_250-55delinsTTTGC	ENSP00000373220.4:n.250-59_250-55delinsTTTGC
ENST00000461692.5:n.417-59_417-55delinsTTTGC
ENST00000469364.5:c.304-59_304-55delinsTTTGC	ENSP00000419580.1:n.304-59_304-55delinsTTTGC
ENST00000474765.1:c.250-59_250-55delinsTTTGC	ENSP00000418448.1:n.250-59_250-55delinsTTTGC
ENST00000479945.1:n.2650_2654delinsTTTGC
ENST00000480626.5:n.396-59_396-55delinsTTTGC
ENST00000485460.5:c.304-59_304-55delinsTTTGC	ENSP00000417267.1:n.304-59_304-55delinsTTTGC
NM_000925.3:c.304-59_304-55delinsTTTGC	NP_000916.2:n.304-59_304-55delinsTTTGC
NM_001173468.1:c.304-59_304-55delinsTTTGC	NP_001166939.1:n.304-59_304-55delinsTTTGC
NM_001315536.1:c.250-59_250-55delinsTTTGC	NP_001302465.1:n.250-59_250-55delinsTTTGC
NR_033384.1:n.417-59_417-55delinsTTTGC
NM_000925.4:c.304-59_304-55delinsTTTGC MANE Select	NP_000916.2:n.304-59_304-55delinsTTTGC
NM_001173468.2:c.304-59_304-55delinsTTTGC	NP_001166939.1:n.304-59_304-55delinsTTTGC
NM_001315536.2:c.250-59_250-55delinsTTTGC	NP_001302465.1:n.250-59_250-55delinsTTTGC
NR_033384.2:n.410-59_410-55delinsTTTGC