Canonical Allele Identifier: CA1367631442

Gene: PDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58431055_58431061delinsATTTTTT , CM000665.2:g.58431055_58431061delinsATTTTTT	GRCh38
NC_000003.11:g.58416782_58416788delinsATTTTTT , CM000665.1:g.58416782_58416788delinsATTTTTT	GRCh37
NC_000003.10:g.58391822_58391828delinsATTTTTT	NCBI36
NG_016860.1:g.7792_7798delinsAAAAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.304-119_304-113delinsAAAAAAT MANE Select	ENSP00000307241.6:n.304-119_304-113delinsAAAAAAT
ENST00000302746.10:c.304-119_304-113delinsAAAAAAT	ENSP00000307241.6:n.304-119_304-113delinsAAAAAAT
ENST00000383714.8:c.250-119_250-113delinsAAAAAAT	ENSP00000373220.4:n.250-119_250-113delinsAAAAAAT
ENST00000461692.5:n.417-119_417-113delinsAAAAAAT
ENST00000469364.5:c.304-119_304-113delinsAAAAAAT	ENSP00000419580.1:n.304-119_304-113delinsAAAAAAT
ENST00000474765.1:c.250-119_250-113delinsAAAAAAT	ENSP00000418448.1:n.250-119_250-113delinsAAAAAAT
ENST00000479945.1:n.2590_2596delinsAAAAAAT
ENST00000480626.5:n.396-119_396-113delinsAAAAAAT
ENST00000485460.5:c.304-119_304-113delinsAAAAAAT	ENSP00000417267.1:n.304-119_304-113delinsAAAAAAT
NM_000925.3:c.304-119_304-113delinsAAAAAAT	NP_000916.2:n.304-119_304-113delinsAAAAAAT
NM_001173468.1:c.304-119_304-113delinsAAAAAAT	NP_001166939.1:n.304-119_304-113delinsAAAAAAT
NM_001315536.1:c.250-119_250-113delinsAAAAAAT	NP_001302465.1:n.250-119_250-113delinsAAAAAAT
NR_033384.1:n.417-119_417-113delinsAAAAAAT
NM_000925.4:c.304-119_304-113delinsAAAAAAT MANE Select	NP_000916.2:n.304-119_304-113delinsAAAAAAT
NM_001173468.2:c.304-119_304-113delinsAAAAAAT	NP_001166939.1:n.304-119_304-113delinsAAAAAAT
NM_001315536.2:c.250-119_250-113delinsAAAAAAT	NP_001302465.1:n.250-119_250-113delinsAAAAAAT
NR_033384.2:n.410-119_410-113delinsAAAAAAT