Canonical Allele Identifier: CA1367631418
Gene: PDHB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58431029_58431032delinsAAAT , CM000665.2:g.58431029_58431032delinsAAAT GRCh38
NC_000003.11:g.58416756_58416759delinsAAAT , CM000665.1:g.58416756_58416759delinsAAAT GRCh37
NC_000003.10:g.58391796_58391799delinsAAAT NCBI36
NG_016860.1:g.7821_7824delinsATTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000302746.11:c.304-90_304-87delinsATTT MANE Select ENSP00000307241.6:n.304-90_304-87delinsATTT
ENST00000302746.10:c.304-90_304-87delinsATTT ENSP00000307241.6:n.304-90_304-87delinsATTT
ENST00000383714.8:c.250-90_250-87delinsATTT ENSP00000373220.4:n.250-90_250-87delinsATTT
ENST00000461692.5:n.417-90_417-87delinsATTT
ENST00000469364.5:c.304-90_304-87delinsATTT ENSP00000419580.1:n.304-90_304-87delinsATTT
ENST00000474765.1:c.250-90_250-87delinsATTT ENSP00000418448.1:n.250-90_250-87delinsATTT
ENST00000479945.1:n.2619_2622delinsATTT
ENST00000480626.5:n.396-90_396-87delinsATTT
ENST00000485460.5:c.304-90_304-87delinsATTT ENSP00000417267.1:n.304-90_304-87delinsATTT
NM_000925.3:c.304-90_304-87delinsATTT NP_000916.2:n.304-90_304-87delinsATTT
NM_001173468.1:c.304-90_304-87delinsATTT NP_001166939.1:n.304-90_304-87delinsATTT
NM_001315536.1:c.250-90_250-87delinsATTT NP_001302465.1:n.250-90_250-87delinsATTT
NR_033384.1:n.417-90_417-87delinsATTT
NM_000925.4:c.304-90_304-87delinsATTT MANE Select NP_000916.2:n.304-90_304-87delinsATTT
NM_001173468.2:c.304-90_304-87delinsATTT NP_001166939.1:n.304-90_304-87delinsATTT
NM_001315536.2:c.250-90_250-87delinsATTT NP_001302465.1:n.250-90_250-87delinsATTT
NR_033384.2:n.410-90_410-87delinsATTT