Canonical Allele Identifier: CA2418225753

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359802_19359810delinsTGCAGTTTG , CM000685.2:g.19359802_19359810delinsTGCAGTTTG	GRCh38
NC_000023.10:g.19377920_19377928delinsTGCAGTTTG , CM000685.1:g.19377920_19377928delinsTGCAGTTTG	GRCh37
NC_000023.9:g.19287841_19287849delinsTGCAGTTTG	NCBI36
NG_016781.1:g.20910_20918delinsTGCAGTTTG
NG_021184.1:g.160452_160460delinsCAAACTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*149_*157delinsTGCAGTTTG	ENSP00000348062.6:n.*149_*157delinsTGCAGTTTG
ENST00000417819.6:c.*149_*157delinsTGCAGTTTG	ENSP00000404616.2:n.*149_*157delinsTGCAGTTTG
ENST00000423505.6:c.*149_*157delinsTGCAGTTTG	ENSP00000406473.2:n.*149_*157delinsTGCAGTTTG
ENST00000481733.2:n.1117_1125delinsTGCAGTTTG
ENST00000696704.1:c.*654_*662delinsTGCAGTTTG	ENSP00000512823.1:n.*654_*662delinsTGCAGTTTG
ENST00000696705.1:c.*777_*785delinsTGCAGTTTG	ENSP00000512824.1:n.*777_*785delinsTGCAGTTTG
ENST00000422285.7:c.*149_*157delinsTGCAGTTTG MANE Select	ENSP00000394382.2:n.*149_*157delinsTGCAGTTTG
ENST00000379804.1:c.*149_*157delinsTGCAGTTTG	ENSP00000369132.1:n.*149_*157delinsTGCAGTTTG
ENST00000379806.9:c.*149_*157delinsTGCAGTTTG	ENSP00000369134.5:n.*149_*157delinsTGCAGTTTG
ENST00000422285.6:c.*149_*157delinsTGCAGTTTG	ENSP00000394382.2:n.*149_*157delinsTGCAGTTTG
ENST00000478795.1:n.761_769delinsTGCAGTTTG
ENST00000540249.5:c.*149_*157delinsTGCAGTTTG	ENSP00000440761.1:n.*149_*157delinsTGCAGTTTG
ENST00000545074.5:c.*149_*157delinsTGCAGTTTG	ENSP00000438550.1:n.*149_*157delinsTGCAGTTTG
NM_000284.3:c.*149_*157delinsTGCAGTTTG	NP_000275.1:n.*149_*157delinsTGCAGTTTG
NM_001173454.1:c.*149_*157delinsTGCAGTTTG	NP_001166925.1:n.*149_*157delinsTGCAGTTTG
NM_001173455.1:c.*149_*157delinsTGCAGTTTG	NP_001166926.1:n.*149_*157delinsTGCAGTTTG
NM_001173456.1:c.*149_*157delinsTGCAGTTTG	NP_001166927.1:n.*149_*157delinsTGCAGTTTG
XM_011545531.1:c.*149_*157delinsTGCAGTTTG	XP_011543833.1:n.*149_*157delinsTGCAGTTTG
XM_011545532.1:c.*149_*157delinsTGCAGTTTG	XP_011543834.1:n.*149_*157delinsTGCAGTTTG
XM_017029574.2:c.*149_*157delinsTGCAGTTTG	XP_016885063.1:n.*149_*157delinsTGCAGTTTG
NM_000284.4:c.*149_*157delinsTGCAGTTTG MANE Select	NP_000275.1:n.*149_*157delinsTGCAGTTTG
NM_001173454.2:c.*149_*157delinsTGCAGTTTG	NP_001166925.1:n.*149_*157delinsTGCAGTTTG
NM_001173455.2:c.*149_*157delinsTGCAGTTTG	NP_001166926.1:n.*149_*157delinsTGCAGTTTG
NM_001173456.2:c.*149_*157delinsTGCAGTTTG	NP_001166927.1:n.*149_*157delinsTGCAGTTTG