Canonical Allele Identifier: CA2666298083

Gene: PDHB

Linked Data

• gnomAD v4: 3-58430967-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430971_58430972del , CM000665.2:g.58430971_58430972del	GRCh38
NC_000003.11:g.58416698_58416699del , CM000665.1:g.58416698_58416699del	GRCh37
NC_000003.10:g.58391738_58391739del	NCBI36
NG_016860.1:g.7884_7885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.304-27_304-26del MANE Select	ENSP00000307241.6:n.304-27_304-26del
ENST00000302746.10:c.304-27_304-26del	ENSP00000307241.6:n.304-27_304-26del
ENST00000383714.8:c.250-27_250-26del	ENSP00000373220.4:n.250-27_250-26del
ENST00000461692.5:n.417-27_417-26del
ENST00000469364.5:c.304-27_304-26del	ENSP00000419580.1:n.304-27_304-26del
ENST00000474765.1:c.250-27_250-26del	ENSP00000418448.1:n.250-27_250-26del
ENST00000479945.1:n.2682_2683del
ENST00000480626.5:n.396-27_396-26del
ENST00000485460.5:c.304-27_304-26del	ENSP00000417267.1:n.304-27_304-26del
NM_000925.3:c.304-27_304-26del	NP_000916.2:n.304-27_304-26del
NM_001173468.1:c.304-27_304-26del	NP_001166939.1:n.304-27_304-26del
NM_001315536.1:c.250-27_250-26del	NP_001302465.1:n.250-27_250-26del
NR_033384.1:n.417-27_417-26del
NM_000925.4:c.304-27_304-26del MANE Select	NP_000916.2:n.304-27_304-26del
NM_001173468.2:c.304-27_304-26del	NP_001166939.1:n.304-27_304-26del
NM_001315536.2:c.250-27_250-26del	NP_001302465.1:n.250-27_250-26del
NR_033384.2:n.410-27_410-26del