Canonical Allele Identifier: CA1367631430
Gene: PDHB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58431042_58431045delinsATTT , CM000665.2:g.58431042_58431045delinsATTT GRCh38
NC_000003.11:g.58416769_58416772delinsATTT , CM000665.1:g.58416769_58416772delinsATTT GRCh37
NC_000003.10:g.58391809_58391812delinsATTT NCBI36
NG_016860.1:g.7808_7811delinsAAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000302746.11:c.304-103_304-100delinsAAAT MANE Select ENSP00000307241.6:n.304-103_304-100delinsAAAT
ENST00000302746.10:c.304-103_304-100delinsAAAT ENSP00000307241.6:n.304-103_304-100delinsAAAT
ENST00000383714.8:c.250-103_250-100delinsAAAT ENSP00000373220.4:n.250-103_250-100delinsAAAT
ENST00000461692.5:n.417-103_417-100delinsAAAT
ENST00000469364.5:c.304-103_304-100delinsAAAT ENSP00000419580.1:n.304-103_304-100delinsAAAT
ENST00000474765.1:c.250-103_250-100delinsAAAT ENSP00000418448.1:n.250-103_250-100delinsAAAT
ENST00000479945.1:n.2606_2609delinsAAAT
ENST00000480626.5:n.396-103_396-100delinsAAAT
ENST00000485460.5:c.304-103_304-100delinsAAAT ENSP00000417267.1:n.304-103_304-100delinsAAAT
NM_000925.3:c.304-103_304-100delinsAAAT NP_000916.2:n.304-103_304-100delinsAAAT
NM_001173468.1:c.304-103_304-100delinsAAAT NP_001166939.1:n.304-103_304-100delinsAAAT
NM_001315536.1:c.250-103_250-100delinsAAAT NP_001302465.1:n.250-103_250-100delinsAAAT
NR_033384.1:n.417-103_417-100delinsAAAT
NM_000925.4:c.304-103_304-100delinsAAAT MANE Select NP_000916.2:n.304-103_304-100delinsAAAT
NM_001173468.2:c.304-103_304-100delinsAAAT NP_001166939.1:n.304-103_304-100delinsAAAT
NM_001315536.2:c.250-103_250-100delinsAAAT NP_001302465.1:n.250-103_250-100delinsAAAT
NR_033384.2:n.410-103_410-100delinsAAAT