Canonical Allele Identifier: CA2695231671

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359563_19359582dup , CM000685.2:g.19359563_19359582dup	GRCh38
NC_000023.10:g.19377681_19377700dup , CM000685.1:g.19377681_19377700dup	GRCh37
NC_000023.9:g.19287602_19287621dup	NCBI36
NG_016781.1:g.20671_20690dup
NG_021184.1:g.160680_160699dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1104_1123dup	ENSP00000348062.6:p.Ile375ArgfsTer?
ENST00000379805.4:c.*775_*794dup	ENSP00000369133.3:n.*775_*794dup
ENST00000417819.6:c.1167_1186dup	ENSP00000404616.2:p.Ile396ArgfsTer?
ENST00000423505.6:c.1197_1216dup	ENSP00000406473.2:p.Ile406ArgfsTer?
ENST00000481733.2:n.878_897dup
ENST00000696704.1:c.*415_*434dup	ENSP00000512823.1:n.*415_*434dup
ENST00000696705.1:c.*538_*557dup	ENSP00000512824.1:n.*538_*557dup
ENST00000422285.7:c.1083_1102dup MANE Select	ENSP00000394382.2:p.Ile368ArgfsTer?
ENST00000379804.1:c.240_259dup	ENSP00000369132.1:p.Ile87ArgfsTer?
ENST00000379806.9:c.1197_1216dup	ENSP00000369134.5:p.Ile406ArgfsTer?
ENST00000422285.6:c.1083_1102dup	ENSP00000394382.2:p.Ile368ArgfsTer?
ENST00000478795.1:n.522_541dup
ENST00000540249.5:c.990_1009dup	ENSP00000440761.1:p.Ile337ArgfsTer?
ENST00000545074.5:c.1104_1123dup	ENSP00000438550.1:p.Ile375ArgfsTer?
NM_000284.3:c.1083_1102dup	NP_000275.1:p.Ile368ArgfsTer?
NM_001173454.1:c.1197_1216dup	NP_001166925.1:p.Ile406ArgfsTer?
NM_001173455.1:c.1104_1123dup	NP_001166926.1:p.Ile375ArgfsTer?
NM_001173456.1:c.990_1009dup	NP_001166927.1:p.Ile337ArgfsTer?
XM_011545531.1:c.1218_1237dup	XP_011543833.1:p.Ile413ArgfsTer?
XM_011545532.1:c.1125_1144dup	XP_011543834.1:p.Ile382ArgfsTer?
XM_017029574.2:c.1104_1123dup	XP_016885063.1:p.Ile375ArgfsTer?
NM_000284.4:c.1083_1102dup MANE Select	NP_000275.1:p.Ile368ArgfsTer?
NM_001173454.2:c.1197_1216dup	NP_001166925.1:p.Ile406ArgfsTer?
NM_001173455.2:c.1104_1123dup	NP_001166926.1:p.Ile375ArgfsTer?
NM_001173456.2:c.990_1009dup	NP_001166927.1:p.Ile337ArgfsTer?