Canonical Allele Identifier: CA2418224479

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357405_19357420delinsTTTTTGATTCAAAACA , CM000685.2:g.19357405_19357420delinsTTTTTGATTCAAAACA	GRCh38
NC_000023.10:g.19375523_19375538delinsTTTTTGATTCAAAACA , CM000685.1:g.19375523_19375538delinsTTTTTGATTCAAAACA	GRCh37
NC_000023.9:g.19285444_19285459delinsTTTTTGATTCAAAACA	NCBI36
NG_016781.1:g.18513_18528delinsTTTTTGATTCAAAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.853-247_853-232delinsTTTTTGATTCAAAACA	ENSP00000348062.6:n.853-247_853-232delinsTTTTTGATTCAAAACA
ENST00000379805.4:c.*524-247_*524-232delinsTTTTTGATTCAAAACA	ENSP00000369133.3:n.*524-247_*524-232delinsTTTTTGATTCAAAACA
ENST00000417819.6:c.916-247_916-232delinsTTTTTGATTCAAAACA	ENSP00000404616.2:n.916-247_916-232delinsTTTTTGATTCAAAACA
ENST00000423505.6:c.946-247_946-232delinsTTTTTGATTCAAAACA	ENSP00000406473.2:n.946-247_946-232delinsTTTTTGATTCAAAACA
ENST00000481733.2:n.627-247_627-232delinsTTTTTGATTCAAAACA
ENST00000696704.1:c.*164-247_*164-232delinsTTTTTGATTCAAAACA	ENSP00000512823.1:n.*164-247_*164-232delinsTTTTTGATTCAAAACA
ENST00000696705.1:c.*287-247_*287-232delinsTTTTTGATTCAAAACA	ENSP00000512824.1:n.*287-247_*287-232delinsTTTTTGATTCAAAACA
ENST00000422285.7:c.832-247_832-232delinsTTTTTGATTCAAAACA MANE Select	ENSP00000394382.2:n.832-247_832-232delinsTTTTTGATTCAAAACA
ENST00000379804.1:c.-12-247_-12-232delinsTTTTTGATTCAAAACA	ENSP00000369132.1:n.-12-247_-12-232delinsTTTTTGATTCAAAACA
ENST00000379806.9:c.946-247_946-232delinsTTTTTGATTCAAAACA	ENSP00000369134.5:n.946-247_946-232delinsTTTTTGATTCAAAACA
ENST00000422285.6:c.832-247_832-232delinsTTTTTGATTCAAAACA	ENSP00000394382.2:n.832-247_832-232delinsTTTTTGATTCAAAACA
ENST00000478795.1:n.24_39delinsTTTTTGATTCAAAACA
ENST00000481733.1:n.260-247_260-232delinsTTTTTGATTCAAAACA
ENST00000540249.5:c.739-247_739-232delinsTTTTTGATTCAAAACA	ENSP00000440761.1:n.739-247_739-232delinsTTTTTGATTCAAAACA
ENST00000545074.5:c.853-247_853-232delinsTTTTTGATTCAAAACA	ENSP00000438550.1:n.853-247_853-232delinsTTTTTGATTCAAAACA
NM_000284.3:c.832-247_832-232delinsTTTTTGATTCAAAACA	NP_000275.1:n.832-247_832-232delinsTTTTTGATTCAAAACA
NM_001173454.1:c.946-247_946-232delinsTTTTTGATTCAAAACA	NP_001166925.1:n.946-247_946-232delinsTTTTTGATTCAAAACA
NM_001173455.1:c.853-247_853-232delinsTTTTTGATTCAAAACA	NP_001166926.1:n.853-247_853-232delinsTTTTTGATTCAAAACA
NM_001173456.1:c.739-247_739-232delinsTTTTTGATTCAAAACA	NP_001166927.1:n.739-247_739-232delinsTTTTTGATTCAAAACA
XM_011545531.1:c.967-247_967-232delinsTTTTTGATTCAAAACA	XP_011543833.1:n.967-247_967-232delinsTTTTTGATTCAAAACA
XM_011545532.1:c.874-247_874-232delinsTTTTTGATTCAAAACA	XP_011543834.1:n.874-247_874-232delinsTTTTTGATTCAAAACA
XM_017029574.2:c.853-247_853-232delinsTTTTTGATTCAAAACA	XP_016885063.1:n.853-247_853-232delinsTTTTTGATTCAAAACA
NM_000284.4:c.832-247_832-232delinsTTTTTGATTCAAAACA MANE Select	NP_000275.1:n.832-247_832-232delinsTTTTTGATTCAAAACA
NM_001173454.2:c.946-247_946-232delinsTTTTTGATTCAAAACA	NP_001166925.1:n.946-247_946-232delinsTTTTTGATTCAAAACA
NM_001173455.2:c.853-247_853-232delinsTTTTTGATTCAAAACA	NP_001166926.1:n.853-247_853-232delinsTTTTTGATTCAAAACA
NM_001173456.2:c.739-247_739-232delinsTTTTTGATTCAAAACA	NP_001166927.1:n.739-247_739-232delinsTTTTTGATTCAAAACA