Canonical Allele Identifier: CA1131434782

Gene: PDHA1

Linked Data

• gnomAD v3: X-19359787-C-CTCGG
• gnomAD v4: X-19359787-C-CTCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359787_19359788insTCGG , CM000685.2:g.19359787_19359788insTCGG	GRCh38
NC_000023.10:g.19377905_19377906insTCGG , CM000685.1:g.19377905_19377906insTCGG	GRCh37
NC_000023.9:g.19287826_19287827insTCGG	NCBI36
NG_016781.1:g.20895_20896insTCGG
NG_021184.1:g.160474_160475insCCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*134_*135insTCGG	ENSP00000348062.6:n.*134_*135insTCGG
ENST00000379805.4:c.*999_*1000insTCGG	ENSP00000369133.3:n.*999_*1000insTCGG
ENST00000417819.6:c.*134_*135insTCGG	ENSP00000404616.2:n.*134_*135insTCGG
ENST00000423505.6:c.*134_*135insTCGG	ENSP00000406473.2:n.*134_*135insTCGG
ENST00000481733.2:n.1102_1103insTCGG
ENST00000696704.1:c.*639_*640insTCGG	ENSP00000512823.1:n.*639_*640insTCGG
ENST00000696705.1:c.*762_*763insTCGG	ENSP00000512824.1:n.*762_*763insTCGG
ENST00000422285.7:c.*134_*135insTCGG MANE Select	ENSP00000394382.2:n.*134_*135insTCGG
ENST00000379804.1:c.*134_*135insTCGG	ENSP00000369132.1:n.*134_*135insTCGG
ENST00000379806.9:c.*134_*135insTCGG	ENSP00000369134.5:n.*134_*135insTCGG
ENST00000422285.6:c.*134_*135insTCGG	ENSP00000394382.2:n.*134_*135insTCGG
ENST00000478795.1:n.746_747insTCGG
ENST00000540249.5:c.*134_*135insTCGG	ENSP00000440761.1:n.*134_*135insTCGG
ENST00000545074.5:c.*134_*135insTCGG	ENSP00000438550.1:n.*134_*135insTCGG
NM_000284.3:c.*134_*135insTCGG	NP_000275.1:n.*134_*135insTCGG
NM_001173454.1:c.*134_*135insTCGG	NP_001166925.1:n.*134_*135insTCGG
NM_001173455.1:c.*134_*135insTCGG	NP_001166926.1:n.*134_*135insTCGG
NM_001173456.1:c.*134_*135insTCGG	NP_001166927.1:n.*134_*135insTCGG
XM_011545531.1:c.*134_*135insTCGG	XP_011543833.1:n.*134_*135insTCGG
XM_011545532.1:c.*134_*135insTCGG	XP_011543834.1:n.*134_*135insTCGG
XM_017029574.2:c.*134_*135insTCGG	XP_016885063.1:n.*134_*135insTCGG
NM_000284.4:c.*134_*135insTCGG MANE Select	NP_000275.1:n.*134_*135insTCGG
NM_001173454.2:c.*134_*135insTCGG	NP_001166925.1:n.*134_*135insTCGG
NM_001173455.2:c.*134_*135insTCGG	NP_001166926.1:n.*134_*135insTCGG
NM_001173456.2:c.*134_*135insTCGG	NP_001166927.1:n.*134_*135insTCGG