Canonical Allele Identifier: CA1131434759

Gene: PDHA1

Linked Data

• gnomAD v3: X-19359784-G-GGTCGCCGT
• gnomAD v4: X-19359784-G-GGTCGCCGT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359784_19359785insGTCGCCGT , CM000685.2:g.19359784_19359785insGTCGCCGT	GRCh38
NC_000023.10:g.19377902_19377903insGTCGCCGT , CM000685.1:g.19377902_19377903insGTCGCCGT	GRCh37
NC_000023.9:g.19287823_19287824insGTCGCCGT	NCBI36
NG_016781.1:g.20892_20893insGTCGCCGT
NG_021184.1:g.160477_160478insACGGCGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*131_*132insGTCGCCGT	ENSP00000348062.6:n.*131_*132insGTCGCCGT
ENST00000379805.4:c.*996_*997insGTCGCCGT	ENSP00000369133.3:n.*996_*997insGTCGCCGT
ENST00000417819.6:c.*131_*132insGTCGCCGT	ENSP00000404616.2:n.*131_*132insGTCGCCGT
ENST00000423505.6:c.*131_*132insGTCGCCGT	ENSP00000406473.2:n.*131_*132insGTCGCCGT
ENST00000481733.2:n.1099_1100insGTCGCCGT
ENST00000696704.1:c.*636_*637insGTCGCCGT	ENSP00000512823.1:n.*636_*637insGTCGCCGT
ENST00000696705.1:c.*759_*760insGTCGCCGT	ENSP00000512824.1:n.*759_*760insGTCGCCGT
ENST00000422285.7:c.*131_*132insGTCGCCGT MANE Select	ENSP00000394382.2:n.*131_*132insGTCGCCGT
ENST00000379804.1:c.*131_*132insGTCGCCGT	ENSP00000369132.1:n.*131_*132insGTCGCCGT
ENST00000379806.9:c.*131_*132insGTCGCCGT	ENSP00000369134.5:n.*131_*132insGTCGCCGT
ENST00000422285.6:c.*131_*132insGTCGCCGT	ENSP00000394382.2:n.*131_*132insGTCGCCGT
ENST00000478795.1:n.743_744insGTCGCCGT
ENST00000540249.5:c.*131_*132insGTCGCCGT	ENSP00000440761.1:n.*131_*132insGTCGCCGT
ENST00000545074.5:c.*131_*132insGTCGCCGT	ENSP00000438550.1:n.*131_*132insGTCGCCGT
NM_000284.3:c.*131_*132insGTCGCCGT	NP_000275.1:n.*131_*132insGTCGCCGT
NM_001173454.1:c.*131_*132insGTCGCCGT	NP_001166925.1:n.*131_*132insGTCGCCGT
NM_001173455.1:c.*131_*132insGTCGCCGT	NP_001166926.1:n.*131_*132insGTCGCCGT
NM_001173456.1:c.*131_*132insGTCGCCGT	NP_001166927.1:n.*131_*132insGTCGCCGT
XM_011545531.1:c.*131_*132insGTCGCCGT	XP_011543833.1:n.*131_*132insGTCGCCGT
XM_011545532.1:c.*131_*132insGTCGCCGT	XP_011543834.1:n.*131_*132insGTCGCCGT
XM_017029574.2:c.*131_*132insGTCGCCGT	XP_016885063.1:n.*131_*132insGTCGCCGT
NM_000284.4:c.*131_*132insGTCGCCGT MANE Select	NP_000275.1:n.*131_*132insGTCGCCGT
NM_001173454.2:c.*131_*132insGTCGCCGT	NP_001166925.1:n.*131_*132insGTCGCCGT
NM_001173455.2:c.*131_*132insGTCGCCGT	NP_001166926.1:n.*131_*132insGTCGCCGT
NM_001173456.2:c.*131_*132insGTCGCCGT	NP_001166927.1:n.*131_*132insGTCGCCGT