Canonical Allele Identifier: CA2418225679

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359720_19359732delinsGGAAGAAAACCCA , CM000685.2:g.19359720_19359732delinsGGAAGAAAACCCA	GRCh38
NC_000023.10:g.19377838_19377850delinsGGAAGAAAACCCA , CM000685.1:g.19377838_19377850delinsGGAAGAAAACCCA	GRCh37
NC_000023.9:g.19287759_19287771delinsGGAAGAAAACCCA	NCBI36
NG_016781.1:g.20828_20840delinsGGAAGAAAACCCA
NG_021184.1:g.160530_160542delinsTGGGTTTTCTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*67_*79delinsGGAAGAAAACCCA	ENSP00000348062.6:n.*67_*79delinsGGAAGAAAACCCA
ENST00000379805.4:c.*932_*944delinsGGAAGAAAACCCA	ENSP00000369133.3:n.*932_*944delinsGGAAGAAAACCCA
ENST00000417819.6:c.*67_*79delinsGGAAGAAAACCCA	ENSP00000404616.2:n.*67_*79delinsGGAAGAAAACCCA
ENST00000423505.6:c.*67_*79delinsGGAAGAAAACCCA	ENSP00000406473.2:n.*67_*79delinsGGAAGAAAACCCA
ENST00000481733.2:n.1035_1047delinsGGAAGAAAACCCA
ENST00000696704.1:c.*572_*584delinsGGAAGAAAACCCA	ENSP00000512823.1:n.*572_*584delinsGGAAGAAAACCCA
ENST00000696705.1:c.*695_*707delinsGGAAGAAAACCCA	ENSP00000512824.1:n.*695_*707delinsGGAAGAAAACCCA
ENST00000422285.7:c.*67_*79delinsGGAAGAAAACCCA MANE Select	ENSP00000394382.2:n.*67_*79delinsGGAAGAAAACCCA
ENST00000379804.1:c.*67_*79delinsGGAAGAAAACCCA	ENSP00000369132.1:n.*67_*79delinsGGAAGAAAACCCA
ENST00000379806.9:c.*67_*79delinsGGAAGAAAACCCA	ENSP00000369134.5:n.*67_*79delinsGGAAGAAAACCCA
ENST00000422285.6:c.*67_*79delinsGGAAGAAAACCCA	ENSP00000394382.2:n.*67_*79delinsGGAAGAAAACCCA
ENST00000478795.1:n.679_691delinsGGAAGAAAACCCA
ENST00000540249.5:c.*67_*79delinsGGAAGAAAACCCA	ENSP00000440761.1:n.*67_*79delinsGGAAGAAAACCCA
ENST00000545074.5:c.*67_*79delinsGGAAGAAAACCCA	ENSP00000438550.1:n.*67_*79delinsGGAAGAAAACCCA
NM_000284.3:c.*67_*79delinsGGAAGAAAACCCA	NP_000275.1:n.*67_*79delinsGGAAGAAAACCCA
NM_001173454.1:c.*67_*79delinsGGAAGAAAACCCA	NP_001166925.1:n.*67_*79delinsGGAAGAAAACCCA
NM_001173455.1:c.*67_*79delinsGGAAGAAAACCCA	NP_001166926.1:n.*67_*79delinsGGAAGAAAACCCA
NM_001173456.1:c.*67_*79delinsGGAAGAAAACCCA	NP_001166927.1:n.*67_*79delinsGGAAGAAAACCCA
XM_011545531.1:c.*67_*79delinsGGAAGAAAACCCA	XP_011543833.1:n.*67_*79delinsGGAAGAAAACCCA
XM_011545532.1:c.*67_*79delinsGGAAGAAAACCCA	XP_011543834.1:n.*67_*79delinsGGAAGAAAACCCA
XM_017029574.2:c.*67_*79delinsGGAAGAAAACCCA	XP_016885063.1:n.*67_*79delinsGGAAGAAAACCCA
NM_000284.4:c.*67_*79delinsGGAAGAAAACCCA MANE Select	NP_000275.1:n.*67_*79delinsGGAAGAAAACCCA
NM_001173454.2:c.*67_*79delinsGGAAGAAAACCCA	NP_001166925.1:n.*67_*79delinsGGAAGAAAACCCA
NM_001173455.2:c.*67_*79delinsGGAAGAAAACCCA	NP_001166926.1:n.*67_*79delinsGGAAGAAAACCCA
NM_001173456.2:c.*67_*79delinsGGAAGAAAACCCA	NP_001166927.1:n.*67_*79delinsGGAAGAAAACCCA