Canonical Allele Identifier: CA2418225648

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359675_19359676delinsTA , CM000685.2:g.19359675_19359676delinsTA	GRCh38
NC_000023.10:g.19377793_19377794delinsTA , CM000685.1:g.19377793_19377794delinsTA	GRCh37
NC_000023.9:g.19287714_19287715delinsTA	NCBI36
NG_016781.1:g.20783_20784delinsTA
NG_021184.1:g.160586_160587delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*22_*23delinsTA	ENSP00000348062.6:n.*22_*23delinsTA
ENST00000379805.4:c.*887_*888delinsTA	ENSP00000369133.3:n.*887_*888delinsTA
ENST00000417819.6:c.*22_*23delinsTA	ENSP00000404616.2:n.*22_*23delinsTA
ENST00000423505.6:c.*22_*23delinsTA	ENSP00000406473.2:n.*22_*23delinsTA
ENST00000481733.2:n.990_991delinsTA
ENST00000696704.1:c.*527_*528delinsTA	ENSP00000512823.1:n.*527_*528delinsTA
ENST00000696705.1:c.*650_*651delinsTA	ENSP00000512824.1:n.*650_*651delinsTA
ENST00000422285.7:c.*22_*23delinsTA MANE Select	ENSP00000394382.2:n.*22_*23delinsTA
ENST00000379804.1:c.*22_*23delinsTA	ENSP00000369132.1:n.*22_*23delinsTA
ENST00000379806.9:c.*22_*23delinsTA	ENSP00000369134.5:n.*22_*23delinsTA
ENST00000422285.6:c.*22_*23delinsTA	ENSP00000394382.2:n.*22_*23delinsTA
ENST00000478795.1:n.634_635delinsTA
ENST00000540249.5:c.*22_*23delinsTA	ENSP00000440761.1:n.*22_*23delinsTA
ENST00000545074.5:c.*22_*23delinsTA	ENSP00000438550.1:n.*22_*23delinsTA
NM_000284.3:c.*22_*23delinsTA	NP_000275.1:n.*22_*23delinsTA
NM_001173454.1:c.*22_*23delinsTA	NP_001166925.1:n.*22_*23delinsTA
NM_001173455.1:c.*22_*23delinsTA	NP_001166926.1:n.*22_*23delinsTA
NM_001173456.1:c.*22_*23delinsTA	NP_001166927.1:n.*22_*23delinsTA
XM_011545531.1:c.*22_*23delinsTA	XP_011543833.1:n.*22_*23delinsTA
XM_011545532.1:c.*22_*23delinsTA	XP_011543834.1:n.*22_*23delinsTA
XM_017029574.2:c.*22_*23delinsTA	XP_016885063.1:n.*22_*23delinsTA
NM_000284.4:c.*22_*23delinsTA MANE Select	NP_000275.1:n.*22_*23delinsTA
NM_001173454.2:c.*22_*23delinsTA	NP_001166925.1:n.*22_*23delinsTA
NM_001173455.2:c.*22_*23delinsTA	NP_001166926.1:n.*22_*23delinsTA
NM_001173456.2:c.*22_*23delinsTA	NP_001166927.1:n.*22_*23delinsTA