Canonical Allele Identifier: CA2613091619

Gene: PDHX

Linked Data

• gnomAD v4: 11-34916523-G-GGT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916524_34916525insTG , CM000673.2:g.34916524_34916525insTG	GRCh38
NC_000011.9:g.34938071_34938072insTG , CM000673.1:g.34938071_34938072insTG	GRCh37
NC_000011.8:g.34894647_34894648insTG	NCBI36
NG_013368.1:g.5395_5396insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+38_-21+39insTG	ENSP00000389404.3:n.-21+38_-21+39insTG
ENST00000448838.7:c.115+38_115+39insTG	ENSP00000389404.2:n.115+38_115+39insTG
ENST00000533550.5:c.-21+586_-21+587insTG	ENSP00000431281.1:n.-21+586_-21+587insTG
NM_001135024.1:c.115+38_115+39insTG	NP_001128496.1:n.115+38_115+39insTG
NM_001166158.1:c.-132_-131insTG	NP_001159630.1:n.-132_-131insTG
NM_003477.2:c.-132_-131insTG	NP_003468.2:n.-132_-131insTG
XM_011520390.1:c.-21+586_-21+587insTG	XP_011518692.1:n.-21+586_-21+587insTG
NM_001135024.2:c.-21+38_-21+39insTG	NP_001128496.2:n.-21+38_-21+39insTG