Canonical Allele Identifier: CA2499216972

Gene: PDHB

Linked Data

• dbSNP Id: rs2107939629

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430811_58430812delinsCT , CM000665.2:g.58430811_58430812delinsCT	GRCh38
NC_000003.11:g.58416538_58416539delinsCT , CM000665.1:g.58416538_58416539delinsCT	GRCh37
NC_000003.10:g.58391578_58391579delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.434_435delinsAG MANE Select	ENSP00000307241.6:p.Arg145Lys
ENST00000302746.10:c.434_435delinsAG	ENSP00000307241.6:p.Arg145Lys
ENST00000383714.8:c.380_381delinsAG	ENSP00000373220.4:p.Arg127Lys
ENST00000461692.5:n.547_548delinsAG
ENST00000469364.5:c.434_435delinsAG	ENSP00000419580.1:p.Arg145Lys
ENST00000474765.1:c.380_381delinsAG	ENSP00000418448.1:p.Arg127Lys
ENST00000479945.1:n.2839_2840delinsAG
ENST00000480626.5:n.526_527delinsAG
ENST00000485460.5:c.404-24_404-23delinsAG	ENSP00000417267.1:n.404-24_404-23delinsAG
NM_001173468.1:c.404-24_404-23delinsAG	NP_001166939.1:n.404-24_404-23delinsAG
NM_000925.4:c.434_435delinsAG MANE Select	NP_000916.2:p.Arg145Lys
NM_001173468.2:c.404-24_404-23delinsAG	NP_001166939.1:n.404-24_404-23delinsAG
NM_001315536.2:c.380_381delinsAG	NP_001302465.1:p.Arg127Lys
NR_033384.2:n.540_541delinsAG