Canonical Allele Identifier: CA2579566474

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359661_19359671del , CM000685.2:g.19359661_19359671del	GRCh38
NC_000023.10:g.19377779_19377789del , CM000685.1:g.19377779_19377789del	GRCh37
NC_000023.9:g.19287700_19287710del	NCBI36
NG_016781.1:g.20769_20779del
NG_021184.1:g.160595_160605del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.*8_*18del	ENSP00000348062.6:n.*8_*18del
ENST00000379805.4:c.*873_*883del	ENSP00000369133.3:n.*873_*883del
ENST00000417819.6:c.*8_*18del	ENSP00000404616.2:n.*8_*18del
ENST00000423505.6:c.*8_*18del	ENSP00000406473.2:n.*8_*18del
ENST00000481733.2:n.976_986del
ENST00000696704.1:c.*513_*523del	ENSP00000512823.1:n.*513_*523del
ENST00000696705.1:c.*636_*646del	ENSP00000512824.1:n.*636_*646del
ENST00000422285.7:c.*8_*18del MANE Select	ENSP00000394382.2:n.*8_*18del
ENST00000379804.1:c.*8_*18del	ENSP00000369132.1:n.*8_*18del
ENST00000379806.9:c.*8_*18del	ENSP00000369134.5:n.*8_*18del
ENST00000422285.6:c.*8_*18del	ENSP00000394382.2:n.*8_*18del
ENST00000478795.1:n.620_630del
ENST00000540249.5:c.*8_*18del	ENSP00000440761.1:n.*8_*18del
ENST00000545074.5:c.*8_*18del	ENSP00000438550.1:n.*8_*18del
NM_000284.3:c.*8_*18del	NP_000275.1:n.*8_*18del
NM_001173454.1:c.*8_*18del	NP_001166925.1:n.*8_*18del
NM_001173455.1:c.*8_*18del	NP_001166926.1:n.*8_*18del
NM_001173456.1:c.*8_*18del	NP_001166927.1:n.*8_*18del
XM_011545531.1:c.*8_*18del	XP_011543833.1:n.*8_*18del
XM_011545532.1:c.*8_*18del	XP_011543834.1:n.*8_*18del
XM_017029574.2:c.*8_*18del	XP_016885063.1:n.*8_*18del
NM_000284.4:c.*8_*18del MANE Select	NP_000275.1:n.*8_*18del
NM_001173454.2:c.*8_*18del	NP_001166925.1:n.*8_*18del
NM_001173455.2:c.*8_*18del	NP_001166926.1:n.*8_*18del
NM_001173456.2:c.*8_*18del	NP_001166927.1:n.*8_*18del