Canonical Allele Identifier: CA2418225540

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359456_19359466delinsCTAAAACCTTT , CM000685.2:g.19359456_19359466delinsCTAAAACCTTT	GRCh38
NC_000023.10:g.19377574_19377584delinsCTAAAACCTTT , CM000685.1:g.19377574_19377584delinsCTAAAACCTTT	GRCh37
NC_000023.9:g.19287495_19287505delinsCTAAAACCTTT	NCBI36
NG_016781.1:g.20564_20574delinsCTAAAACCTTT
NG_021184.1:g.160796_160806delinsAAAGGTTTTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1030-33_1030-23delinsCTAAAACCTTT	ENSP00000348062.6:n.1030-33_1030-23delinsCTAAAACCTTT
ENST00000379805.4:c.*701-33_*701-23delinsCTAAAACCTTT	ENSP00000369133.3:n.*701-33_*701-23delinsCTAAAACCTTT
ENST00000417819.6:c.1093-33_1093-23delinsCTAAAACCTTT	ENSP00000404616.2:n.1093-33_1093-23delinsCTAAAACCTTT
ENST00000423505.6:c.1123-33_1123-23delinsCTAAAACCTTT	ENSP00000406473.2:n.1123-33_1123-23delinsCTAAAACCTTT
ENST00000481733.2:n.804-33_804-23delinsCTAAAACCTTT
ENST00000696704.1:c.*341-33_*341-23delinsCTAAAACCTTT	ENSP00000512823.1:n.*341-33_*341-23delinsCTAAAACCTTT
ENST00000696705.1:c.*464-33_*464-23delinsCTAAAACCTTT	ENSP00000512824.1:n.*464-33_*464-23delinsCTAAAACCTTT
ENST00000422285.7:c.1009-33_1009-23delinsCTAAAACCTTT MANE Select	ENSP00000394382.2:n.1009-33_1009-23delinsCTAAAACCTTT
ENST00000379804.1:c.166-33_166-23delinsCTAAAACCTTT	ENSP00000369132.1:n.166-33_166-23delinsCTAAAACCTTT
ENST00000379806.9:c.1123-33_1123-23delinsCTAAAACCTTT	ENSP00000369134.5:n.1123-33_1123-23delinsCTAAAACCTTT
ENST00000422285.6:c.1009-33_1009-23delinsCTAAAACCTTT	ENSP00000394382.2:n.1009-33_1009-23delinsCTAAAACCTTT
ENST00000478795.1:n.448-33_448-23delinsCTAAAACCTTT
ENST00000540249.5:c.916-33_916-23delinsCTAAAACCTTT	ENSP00000440761.1:n.916-33_916-23delinsCTAAAACCTTT
ENST00000545074.5:c.1030-33_1030-23delinsCTAAAACCTTT	ENSP00000438550.1:n.1030-33_1030-23delinsCTAAAACCTTT
NM_000284.3:c.1009-33_1009-23delinsCTAAAACCTTT	NP_000275.1:n.1009-33_1009-23delinsCTAAAACCTTT
NM_001173454.1:c.1123-33_1123-23delinsCTAAAACCTTT	NP_001166925.1:n.1123-33_1123-23delinsCTAAAACCTTT
NM_001173455.1:c.1030-33_1030-23delinsCTAAAACCTTT	NP_001166926.1:n.1030-33_1030-23delinsCTAAAACCTTT
NM_001173456.1:c.916-33_916-23delinsCTAAAACCTTT	NP_001166927.1:n.916-33_916-23delinsCTAAAACCTTT
XM_011545531.1:c.1144-33_1144-23delinsCTAAAACCTTT	XP_011543833.1:n.1144-33_1144-23delinsCTAAAACCTTT
XM_011545532.1:c.1051-33_1051-23delinsCTAAAACCTTT	XP_011543834.1:n.1051-33_1051-23delinsCTAAAACCTTT
XM_017029574.2:c.1030-33_1030-23delinsCTAAAACCTTT	XP_016885063.1:n.1030-33_1030-23delinsCTAAAACCTTT
NM_000284.4:c.1009-33_1009-23delinsCTAAAACCTTT MANE Select	NP_000275.1:n.1009-33_1009-23delinsCTAAAACCTTT
NM_001173454.2:c.1123-33_1123-23delinsCTAAAACCTTT	NP_001166925.1:n.1123-33_1123-23delinsCTAAAACCTTT
NM_001173455.2:c.1030-33_1030-23delinsCTAAAACCTTT	NP_001166926.1:n.1030-33_1030-23delinsCTAAAACCTTT
NM_001173456.2:c.916-33_916-23delinsCTAAAACCTTT	NP_001166927.1:n.916-33_916-23delinsCTAAAACCTTT