Canonical Allele Identifier: CA75457240

Gene: PDHB

Linked Data

• dbSNP Id: rs1553848499
• gnomAD v4: 3-58431045-T-TA
• MyVariant Identifiers: chr3:g.58416772_58416773insA (hg19) ; chr3:g.58431045_58431046insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58431045_58431046insA , CM000665.2:g.58431045_58431046insA	GRCh38
NC_000003.11:g.58416772_58416773insA , CM000665.1:g.58416772_58416773insA	GRCh37
NC_000003.10:g.58391812_58391813insA	NCBI36
NG_016860.1:g.7807_7808insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.304-104_304-103insT MANE Select	ENSP00000307241.6:n.304-104_304-103insT
ENST00000302746.10:c.304-104_304-103insT	ENSP00000307241.6:n.304-104_304-103insT
ENST00000383714.8:c.250-104_250-103insT	ENSP00000373220.4:n.250-104_250-103insT
ENST00000461692.5:n.417-104_417-103insT
ENST00000469364.5:c.304-104_304-103insT	ENSP00000419580.1:n.304-104_304-103insT
ENST00000474765.1:c.250-104_250-103insT	ENSP00000418448.1:n.250-104_250-103insT
ENST00000479945.1:n.2605_2606insT
ENST00000480626.5:n.396-104_396-103insT
ENST00000485460.5:c.304-104_304-103insT	ENSP00000417267.1:n.304-104_304-103insT
NM_000925.3:c.304-104_304-103insT	NP_000916.2:n.304-104_304-103insT
NM_001173468.1:c.304-104_304-103insT	NP_001166939.1:n.304-104_304-103insT
NM_001315536.1:c.250-104_250-103insT	NP_001302465.1:n.250-104_250-103insT
NR_033384.1:n.417-104_417-103insT
NM_000925.4:c.304-104_304-103insT MANE Select	NP_000916.2:n.304-104_304-103insT
NM_001173468.2:c.304-104_304-103insT	NP_001166939.1:n.304-104_304-103insT
NM_001315536.2:c.250-104_250-103insT	NP_001302465.1:n.250-104_250-103insT
NR_033384.2:n.410-104_410-103insT