Canonical Allele Identifier: CA2418225589

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359556_19359576delinsCACCTTTGGAAGAGCTGGGCT , CM000685.2:g.19359556_19359576delinsCACCTTTGGAAGAGCTGGGCT	GRCh38
NC_000023.10:g.19377674_19377694delinsCACCTTTGGAAGAGCTGGGCT , CM000685.1:g.19377674_19377694delinsCACCTTTGGAAGAGCTGGGCT	GRCh37
NC_000023.9:g.19287595_19287615delinsCACCTTTGGAAGAGCTGGGCT	NCBI36
NG_016781.1:g.20664_20684delinsCACCTTTGGAAGAGCTGGGCT
NG_021184.1:g.160686_160706delinsAGCCCAGCTCTTCCAAAGGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1097_1117delinsCACCTTTGGAAGAGCTGGGCT	ENSP00000348062.6:p.Pro366=
ENST00000379805.4:c.*768_*788delinsCACCTTTGGAAGAGCTGGGCT	ENSP00000369133.3:n.*768_*788delinsCACCTTTGGAAGAGCTGGGCT
ENST00000417819.6:c.1160_1180delinsCACCTTTGGAAGAGCTGGGCT	ENSP00000404616.2:p.Pro387=
ENST00000423505.6:c.1190_1210delinsCACCTTTGGAAGAGCTGGGCT	ENSP00000406473.2:p.Pro397=
ENST00000481733.2:n.871_891delinsCACCTTTGGAAGAGCTGGGCT
ENST00000696704.1:c.*408_*428delinsCACCTTTGGAAGAGCTGGGCT	ENSP00000512823.1:n.*408_*428delinsCACCTTTGGAAGAGCTGGGCT
ENST00000696705.1:c.*531_*551delinsCACCTTTGGAAGAGCTGGGCT	ENSP00000512824.1:n.*531_*551delinsCACCTTTGGAAGAGCTGGGCT
ENST00000422285.7:c.1076_1096delinsCACCTTTGGAAGAGCTGGGCT MANE Select	ENSP00000394382.2:p.Pro359=
ENST00000379804.1:c.233_253delinsCACCTTTGGAAGAGCTGGGCT	ENSP00000369132.1:p.Pro78=
ENST00000379806.9:c.1190_1210delinsCACCTTTGGAAGAGCTGGGCT	ENSP00000369134.5:p.Pro397=
ENST00000422285.6:c.1076_1096delinsCACCTTTGGAAGAGCTGGGCT	ENSP00000394382.2:p.Pro359=
ENST00000478795.1:n.515_535delinsCACCTTTGGAAGAGCTGGGCT
ENST00000540249.5:c.983_1003delinsCACCTTTGGAAGAGCTGGGCT	ENSP00000440761.1:p.Pro328=
ENST00000545074.5:c.1097_1117delinsCACCTTTGGAAGAGCTGGGCT	ENSP00000438550.1:p.Pro366=
NM_000284.3:c.1076_1096delinsCACCTTTGGAAGAGCTGGGCT	NP_000275.1:p.Pro359=
NM_001173454.1:c.1190_1210delinsCACCTTTGGAAGAGCTGGGCT	NP_001166925.1:p.Pro397=
NM_001173455.1:c.1097_1117delinsCACCTTTGGAAGAGCTGGGCT	NP_001166926.1:p.Pro366=
NM_001173456.1:c.983_1003delinsCACCTTTGGAAGAGCTGGGCT	NP_001166927.1:p.Pro328=
XM_011545531.1:c.1211_1231delinsCACCTTTGGAAGAGCTGGGCT	XP_011543833.1:p.Pro404=
XM_011545532.1:c.1118_1138delinsCACCTTTGGAAGAGCTGGGCT	XP_011543834.1:p.Pro373=
XM_017029574.2:c.1097_1117delinsCACCTTTGGAAGAGCTGGGCT	XP_016885063.1:p.Pro366=
NM_000284.4:c.1076_1096delinsCACCTTTGGAAGAGCTGGGCT MANE Select	NP_000275.1:p.Pro359=
NM_001173454.2:c.1190_1210delinsCACCTTTGGAAGAGCTGGGCT	NP_001166925.1:p.Pro397=
NM_001173455.2:c.1097_1117delinsCACCTTTGGAAGAGCTGGGCT	NP_001166926.1:p.Pro366=
NM_001173456.2:c.983_1003delinsCACCTTTGGAAGAGCTGGGCT	NP_001166927.1:p.Pro328=