Canonical Allele Identifier: CA2693251405

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359745-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359746_19359747del , CM000685.2:g.19359746_19359747del	GRCh38
NC_000023.10:g.19377864_19377865del , CM000685.1:g.19377864_19377865del	GRCh37
NC_000023.9:g.19287785_19287786del	NCBI36
NG_016781.1:g.20854_20855del
NG_021184.1:g.160515_160516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*93_*94del	ENSP00000348062.6:n.*93_*94del
ENST00000379805.4:c.*958_*959del	ENSP00000369133.3:n.*958_*959del
ENST00000417819.6:c.*93_*94del	ENSP00000404616.2:n.*93_*94del
ENST00000423505.6:c.*93_*94del	ENSP00000406473.2:n.*93_*94del
ENST00000481733.2:n.1061_1062del
ENST00000696704.1:c.*598_*599del	ENSP00000512823.1:n.*598_*599del
ENST00000696705.1:c.*721_*722del	ENSP00000512824.1:n.*721_*722del
ENST00000422285.7:c.*93_*94del MANE Select	ENSP00000394382.2:n.*93_*94del
ENST00000379804.1:c.*93_*94del	ENSP00000369132.1:n.*93_*94del
ENST00000379806.9:c.*93_*94del	ENSP00000369134.5:n.*93_*94del
ENST00000422285.6:c.*93_*94del	ENSP00000394382.2:n.*93_*94del
ENST00000478795.1:n.705_706del
ENST00000540249.5:c.*93_*94del	ENSP00000440761.1:n.*93_*94del
ENST00000545074.5:c.*93_*94del	ENSP00000438550.1:n.*93_*94del
NM_000284.3:c.*93_*94del	NP_000275.1:n.*93_*94del
NM_001173454.1:c.*93_*94del	NP_001166925.1:n.*93_*94del
NM_001173455.1:c.*93_*94del	NP_001166926.1:n.*93_*94del
NM_001173456.1:c.*93_*94del	NP_001166927.1:n.*93_*94del
XM_011545531.1:c.*93_*94del	XP_011543833.1:n.*93_*94del
XM_011545532.1:c.*93_*94del	XP_011543834.1:n.*93_*94del
XM_017029574.2:c.*93_*94del	XP_016885063.1:n.*93_*94del
NM_000284.4:c.*93_*94del MANE Select	NP_000275.1:n.*93_*94del
NM_001173454.2:c.*93_*94del	NP_001166925.1:n.*93_*94del
NM_001173455.2:c.*93_*94del	NP_001166926.1:n.*93_*94del
NM_001173456.2:c.*93_*94del	NP_001166927.1:n.*93_*94del