Canonical Allele Identifier: CA2693251349

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359665-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359669_19359670del , CM000685.2:g.19359669_19359670del	GRCh38
NC_000023.10:g.19377787_19377788del , CM000685.1:g.19377787_19377788del	GRCh37
NC_000023.9:g.19287708_19287709del	NCBI36
NG_016781.1:g.20777_20778del
NG_021184.1:g.160595_160596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*16_*17del	ENSP00000348062.6:n.*16_*17del
ENST00000379805.4:c.*881_*882del	ENSP00000369133.3:n.*881_*882del
ENST00000417819.6:c.*16_*17del	ENSP00000404616.2:n.*16_*17del
ENST00000423505.6:c.*16_*17del	ENSP00000406473.2:n.*16_*17del
ENST00000481733.2:n.984_985del
ENST00000696704.1:c.*521_*522del	ENSP00000512823.1:n.*521_*522del
ENST00000696705.1:c.*644_*645del	ENSP00000512824.1:n.*644_*645del
ENST00000422285.7:c.*16_*17del MANE Select	ENSP00000394382.2:n.*16_*17del
ENST00000379804.1:c.*16_*17del	ENSP00000369132.1:n.*16_*17del
ENST00000379806.9:c.*16_*17del	ENSP00000369134.5:n.*16_*17del
ENST00000422285.6:c.*16_*17del	ENSP00000394382.2:n.*16_*17del
ENST00000478795.1:n.628_629del
ENST00000540249.5:c.*16_*17del	ENSP00000440761.1:n.*16_*17del
ENST00000545074.5:c.*16_*17del	ENSP00000438550.1:n.*16_*17del
NM_000284.3:c.*16_*17del	NP_000275.1:n.*16_*17del
NM_001173454.1:c.*16_*17del	NP_001166925.1:n.*16_*17del
NM_001173455.1:c.*16_*17del	NP_001166926.1:n.*16_*17del
NM_001173456.1:c.*16_*17del	NP_001166927.1:n.*16_*17del
XM_011545531.1:c.*16_*17del	XP_011543833.1:n.*16_*17del
XM_011545532.1:c.*16_*17del	XP_011543834.1:n.*16_*17del
XM_017029574.2:c.*16_*17del	XP_016885063.1:n.*16_*17del
NM_000284.4:c.*16_*17del MANE Select	NP_000275.1:n.*16_*17del
NM_001173454.2:c.*16_*17del	NP_001166925.1:n.*16_*17del
NM_001173455.2:c.*16_*17del	NP_001166926.1:n.*16_*17del
NM_001173456.2:c.*16_*17del	NP_001166927.1:n.*16_*17del