Canonical Allele Identifier: CA1367631432

Gene: PDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58431043_58431049delinsTTTTTTA , CM000665.2:g.58431043_58431049delinsTTTTTTA	GRCh38
NC_000003.11:g.58416770_58416776delinsTTTTTTA , CM000665.1:g.58416770_58416776delinsTTTTTTA	GRCh37
NC_000003.10:g.58391810_58391816delinsTTTTTTA	NCBI36
NG_016860.1:g.7804_7810delinsTAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.304-107_304-101delinsTAAAAAA MANE Select	ENSP00000307241.6:n.304-107_304-101delinsTAAAAAA
ENST00000302746.10:c.304-107_304-101delinsTAAAAAA	ENSP00000307241.6:n.304-107_304-101delinsTAAAAAA
ENST00000383714.8:c.250-107_250-101delinsTAAAAAA	ENSP00000373220.4:n.250-107_250-101delinsTAAAAAA
ENST00000461692.5:n.417-107_417-101delinsTAAAAAA
ENST00000469364.5:c.304-107_304-101delinsTAAAAAA	ENSP00000419580.1:n.304-107_304-101delinsTAAAAAA
ENST00000474765.1:c.250-107_250-101delinsTAAAAAA	ENSP00000418448.1:n.250-107_250-101delinsTAAAAAA
ENST00000479945.1:n.2602_2608delinsTAAAAAA
ENST00000480626.5:n.396-107_396-101delinsTAAAAAA
ENST00000485460.5:c.304-107_304-101delinsTAAAAAA	ENSP00000417267.1:n.304-107_304-101delinsTAAAAAA
NM_000925.3:c.304-107_304-101delinsTAAAAAA	NP_000916.2:n.304-107_304-101delinsTAAAAAA
NM_001173468.1:c.304-107_304-101delinsTAAAAAA	NP_001166939.1:n.304-107_304-101delinsTAAAAAA
NM_001315536.1:c.250-107_250-101delinsTAAAAAA	NP_001302465.1:n.250-107_250-101delinsTAAAAAA
NR_033384.1:n.417-107_417-101delinsTAAAAAA
NM_000925.4:c.304-107_304-101delinsTAAAAAA MANE Select	NP_000916.2:n.304-107_304-101delinsTAAAAAA
NM_001173468.2:c.304-107_304-101delinsTAAAAAA	NP_001166939.1:n.304-107_304-101delinsTAAAAAA
NM_001315536.2:c.250-107_250-101delinsTAAAAAA	NP_001302465.1:n.250-107_250-101delinsTAAAAAA
NR_033384.2:n.410-107_410-101delinsTAAAAAA