Canonical Allele Identifier: CA2418225603

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359596_19359608delinsCCCACCTTTTGAA , CM000685.2:g.19359596_19359608delinsCCCACCTTTTGAA	GRCh38
NC_000023.10:g.19377714_19377726delinsCCCACCTTTTGAA , CM000685.1:g.19377714_19377726delinsCCCACCTTTTGAA	GRCh37
NC_000023.9:g.19287635_19287647delinsCCCACCTTTTGAA	NCBI36
NG_016781.1:g.20704_20716delinsCCCACCTTTTGAA
NG_021184.1:g.160654_160666delinsTTCAAAAGGTGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1137_1149delinsCCCACCTTTTGAA	ENSP00000348062.6:p.Asp379=
ENST00000379805.4:c.*808_*820delinsCCCACCTTTTGAA	ENSP00000369133.3:n.*808_*820delinsCCCACCTTTTGAA
ENST00000417819.6:c.1200_1212delinsCCCACCTTTTGAA	ENSP00000404616.2:p.Asp400=
ENST00000423505.6:c.1230_1242delinsCCCACCTTTTGAA	ENSP00000406473.2:p.Asp410=
ENST00000481733.2:n.911_923delinsCCCACCTTTTGAA
ENST00000696704.1:c.*448_*460delinsCCCACCTTTTGAA	ENSP00000512823.1:n.*448_*460delinsCCCACCTTTTGAA
ENST00000696705.1:c.*571_*583delinsCCCACCTTTTGAA	ENSP00000512824.1:n.*571_*583delinsCCCACCTTTTGAA
ENST00000422285.7:c.1116_1128delinsCCCACCTTTTGAA MANE Select	ENSP00000394382.2:p.Asp372=
ENST00000379804.1:c.273_285delinsCCCACCTTTTGAA	ENSP00000369132.1:p.Asp91=
ENST00000379806.9:c.1230_1242delinsCCCACCTTTTGAA	ENSP00000369134.5:p.Asp410=
ENST00000422285.6:c.1116_1128delinsCCCACCTTTTGAA	ENSP00000394382.2:p.Asp372=
ENST00000478795.1:n.555_567delinsCCCACCTTTTGAA
ENST00000540249.5:c.1023_1035delinsCCCACCTTTTGAA	ENSP00000440761.1:p.Asp341=
ENST00000545074.5:c.1137_1149delinsCCCACCTTTTGAA	ENSP00000438550.1:p.Asp379=
NM_000284.3:c.1116_1128delinsCCCACCTTTTGAA	NP_000275.1:p.Asp372=
NM_001173454.1:c.1230_1242delinsCCCACCTTTTGAA	NP_001166925.1:p.Asp410=
NM_001173455.1:c.1137_1149delinsCCCACCTTTTGAA	NP_001166926.1:p.Asp379=
NM_001173456.1:c.1023_1035delinsCCCACCTTTTGAA	NP_001166927.1:p.Asp341=
XM_011545531.1:c.1251_1263delinsCCCACCTTTTGAA	XP_011543833.1:p.Asp417=
XM_011545532.1:c.1158_1170delinsCCCACCTTTTGAA	XP_011543834.1:p.Asp386=
XM_017029574.2:c.1137_1149delinsCCCACCTTTTGAA	XP_016885063.1:p.Asp379=
NM_000284.4:c.1116_1128delinsCCCACCTTTTGAA MANE Select	NP_000275.1:p.Asp372=
NM_001173454.2:c.1230_1242delinsCCCACCTTTTGAA	NP_001166925.1:p.Asp410=
NM_001173455.2:c.1137_1149delinsCCCACCTTTTGAA	NP_001166926.1:p.Asp379=
NM_001173456.2:c.1023_1035delinsCCCACCTTTTGAA	NP_001166927.1:p.Asp341=