Canonical Allele Identifier: CA543261537
Gene: PDHB HGNC NCBI

Linked Data

dbSNP Id: rs1264085827

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58431075_58431078del , CM000665.2:g.58431075_58431078del GRCh38
NC_000003.11:g.58416802_58416805del , CM000665.1:g.58416802_58416805del GRCh37
NC_000003.10:g.58391842_58391845del NCBI36
NG_016860.1:g.7777_7780del

Transcript Alleles

HGVS Amino-acid Change
ENST00000302746.11:c.304-134_304-131del MANE Select ENSP00000307241.6:n.304-134_304-131del
ENST00000302746.10:c.304-134_304-131del ENSP00000307241.6:n.304-134_304-131del
ENST00000383714.8:c.250-134_250-131del ENSP00000373220.4:n.250-134_250-131del
ENST00000461692.5:n.417-134_417-131del
ENST00000469364.5:c.304-134_304-131del ENSP00000419580.1:n.304-134_304-131del
ENST00000474765.1:c.250-134_250-131del ENSP00000418448.1:n.250-134_250-131del
ENST00000479945.1:n.2575_2578del
ENST00000480626.5:n.396-134_396-131del
ENST00000485460.5:c.304-134_304-131del ENSP00000417267.1:n.304-134_304-131del
NM_000925.3:c.304-134_304-131del NP_000916.2:n.304-134_304-131del
NM_001173468.1:c.304-134_304-131del NP_001166939.1:n.304-134_304-131del
NM_001315536.1:c.250-134_250-131del NP_001302465.1:n.250-134_250-131del
NR_033384.1:n.417-134_417-131del
NM_000925.4:c.304-134_304-131del MANE Select NP_000916.2:n.304-134_304-131del
NM_001173468.2:c.304-134_304-131del NP_001166939.1:n.304-134_304-131del
NM_001315536.2:c.250-134_250-131del NP_001302465.1:n.250-134_250-131del
NR_033384.2:n.410-134_410-131del