Canonical Allele Identifier: CA2695231681

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359637_19359642del , CM000685.2:g.19359637_19359642del	GRCh38
NC_000023.10:g.19377755_19377760del , CM000685.1:g.19377755_19377760del	GRCh37
NC_000023.9:g.19287676_19287681del	NCBI36
NG_016781.1:g.20745_20750del
NG_021184.1:g.160624_160629del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1178_1183del	ENSP00000348062.6:p.Phe393_Lys394del
ENST00000379805.4:c.*849_*854del	ENSP00000369133.3:n.*849_*854del
ENST00000417819.6:c.1241_1246del	ENSP00000404616.2:p.Phe414_Lys415del
ENST00000423505.6:c.1271_1276del	ENSP00000406473.2:p.Phe424_Lys425del
ENST00000481733.2:n.952_957del
ENST00000696704.1:c.*489_*494del	ENSP00000512823.1:n.*489_*494del
ENST00000696705.1:c.*612_*617del	ENSP00000512824.1:n.*612_*617del
ENST00000422285.7:c.1157_1162del MANE Select	ENSP00000394382.2:p.Phe386_Lys387del
ENST00000379804.1:c.314_319del	ENSP00000369132.1:p.Phe105_Lys106del
ENST00000379806.9:c.1271_1276del	ENSP00000369134.5:p.Phe424_Lys425del
ENST00000422285.6:c.1157_1162del	ENSP00000394382.2:p.Phe386_Lys387del
ENST00000478795.1:n.596_601del
ENST00000540249.5:c.1064_1069del	ENSP00000440761.1:p.Phe355_Lys356del
ENST00000545074.5:c.1178_1183del	ENSP00000438550.1:p.Phe393_Lys394del
NM_000284.3:c.1157_1162del	NP_000275.1:p.Phe386_Lys387del
NM_001173454.1:c.1271_1276del	NP_001166925.1:p.Phe424_Lys425del
NM_001173455.1:c.1178_1183del	NP_001166926.1:p.Phe393_Lys394del
NM_001173456.1:c.1064_1069del	NP_001166927.1:p.Phe355_Lys356del
XM_011545531.1:c.1292_1297del	XP_011543833.1:p.Phe431_Lys432del
XM_011545532.1:c.1199_1204del	XP_011543834.1:p.Phe400_Lys401del
XM_017029574.2:c.1178_1183del	XP_016885063.1:p.Phe393_Lys394del
NM_000284.4:c.1157_1162del MANE Select	NP_000275.1:p.Phe386_Lys387del
NM_001173454.2:c.1271_1276del	NP_001166925.1:p.Phe424_Lys425del
NM_001173455.2:c.1178_1183del	NP_001166926.1:p.Phe393_Lys394del
NM_001173456.2:c.1064_1069del	NP_001166927.1:p.Phe355_Lys356del