Canonical Allele Identifier: CA1367631417

Gene: PDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58431027_58431028delinsTC , CM000665.2:g.58431027_58431028delinsTC	GRCh38
NC_000003.11:g.58416754_58416755delinsTC , CM000665.1:g.58416754_58416755delinsTC	GRCh37
NC_000003.10:g.58391794_58391795delinsTC	NCBI36
NG_016860.1:g.7825_7826delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.304-86_304-85delinsGA MANE Select	ENSP00000307241.6:n.304-86_304-85delinsGA
ENST00000302746.10:c.304-86_304-85delinsGA	ENSP00000307241.6:n.304-86_304-85delinsGA
ENST00000383714.8:c.250-86_250-85delinsGA	ENSP00000373220.4:n.250-86_250-85delinsGA
ENST00000461692.5:n.417-86_417-85delinsGA
ENST00000469364.5:c.304-86_304-85delinsGA	ENSP00000419580.1:n.304-86_304-85delinsGA
ENST00000474765.1:c.250-86_250-85delinsGA	ENSP00000418448.1:n.250-86_250-85delinsGA
ENST00000479945.1:n.2623_2624delinsGA
ENST00000480626.5:n.396-86_396-85delinsGA
ENST00000485460.5:c.304-86_304-85delinsGA	ENSP00000417267.1:n.304-86_304-85delinsGA
NM_000925.3:c.304-86_304-85delinsGA	NP_000916.2:n.304-86_304-85delinsGA
NM_001173468.1:c.304-86_304-85delinsGA	NP_001166939.1:n.304-86_304-85delinsGA
NM_001315536.1:c.250-86_250-85delinsGA	NP_001302465.1:n.250-86_250-85delinsGA
NR_033384.1:n.417-86_417-85delinsGA
NM_000925.4:c.304-86_304-85delinsGA MANE Select	NP_000916.2:n.304-86_304-85delinsGA
NM_001173468.2:c.304-86_304-85delinsGA	NP_001166939.1:n.304-86_304-85delinsGA
NM_001315536.2:c.250-86_250-85delinsGA	NP_001302465.1:n.250-86_250-85delinsGA
NR_033384.2:n.410-86_410-85delinsGA