Canonical Allele Identifier: CA2418225636

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359660_19359663delinsGAGA , CM000685.2:g.19359660_19359663delinsGAGA	GRCh38
NC_000023.10:g.19377778_19377781delinsGAGA , CM000685.1:g.19377778_19377781delinsGAGA	GRCh37
NC_000023.9:g.19287699_19287702delinsGAGA	NCBI36
NG_016781.1:g.20768_20771delinsGAGA
NG_021184.1:g.160599_160602delinsTCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.*7_*10delinsGAGA	ENSP00000348062.6:n.*7_*10delinsGAGA
ENST00000379805.4:c.*872_*875delinsGAGA	ENSP00000369133.3:n.*872_*875delinsGAGA
ENST00000417819.6:c.*7_*10delinsGAGA	ENSP00000404616.2:n.*7_*10delinsGAGA
ENST00000423505.6:c.*7_*10delinsGAGA	ENSP00000406473.2:n.*7_*10delinsGAGA
ENST00000481733.2:n.975_978delinsGAGA
ENST00000696704.1:c.*512_*515delinsGAGA	ENSP00000512823.1:n.*512_*515delinsGAGA
ENST00000696705.1:c.*635_*638delinsGAGA	ENSP00000512824.1:n.*635_*638delinsGAGA
ENST00000422285.7:c.*7_*10delinsGAGA MANE Select	ENSP00000394382.2:n.*7_*10delinsGAGA
ENST00000379804.1:c.*7_*10delinsGAGA	ENSP00000369132.1:n.*7_*10delinsGAGA
ENST00000379806.9:c.*7_*10delinsGAGA	ENSP00000369134.5:n.*7_*10delinsGAGA
ENST00000422285.6:c.*7_*10delinsGAGA	ENSP00000394382.2:n.*7_*10delinsGAGA
ENST00000478795.1:n.619_622delinsGAGA
ENST00000540249.5:c.*7_*10delinsGAGA	ENSP00000440761.1:n.*7_*10delinsGAGA
ENST00000545074.5:c.*7_*10delinsGAGA	ENSP00000438550.1:n.*7_*10delinsGAGA
NM_000284.3:c.*7_*10delinsGAGA	NP_000275.1:n.*7_*10delinsGAGA
NM_001173454.1:c.*7_*10delinsGAGA	NP_001166925.1:n.*7_*10delinsGAGA
NM_001173455.1:c.*7_*10delinsGAGA	NP_001166926.1:n.*7_*10delinsGAGA
NM_001173456.1:c.*7_*10delinsGAGA	NP_001166927.1:n.*7_*10delinsGAGA
XM_011545531.1:c.*7_*10delinsGAGA	XP_011543833.1:n.*7_*10delinsGAGA
XM_011545532.1:c.*7_*10delinsGAGA	XP_011543834.1:n.*7_*10delinsGAGA
XM_017029574.2:c.*7_*10delinsGAGA	XP_016885063.1:n.*7_*10delinsGAGA
NM_000284.4:c.*7_*10delinsGAGA MANE Select	NP_000275.1:n.*7_*10delinsGAGA
NM_001173454.2:c.*7_*10delinsGAGA	NP_001166925.1:n.*7_*10delinsGAGA
NM_001173455.2:c.*7_*10delinsGAGA	NP_001166926.1:n.*7_*10delinsGAGA
NM_001173456.2:c.*7_*10delinsGAGA	NP_001166927.1:n.*7_*10delinsGAGA