Canonical Allele Identifier: CA2418225811

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063256751
• gnomAD v4: X-19359880-TGAACAAATACTCTAATTATGAAAAGGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359887_19359914del , CM000685.2:g.19359887_19359914del	GRCh38
NC_000023.10:g.19378005_19378032del , CM000685.1:g.19378005_19378032del	GRCh37
NC_000023.9:g.19287926_19287953del	NCBI36
NG_016781.1:g.20995_21022del
NG_021184.1:g.160354_160381del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*234_*261del	ENSP00000348062.6:n.*234_*261del
ENST00000423505.6:c.*234_*261del	ENSP00000406473.2:n.*234_*261del
ENST00000696704.1:c.*739_*766del	ENSP00000512823.1:n.*739_*766del
ENST00000696705.1:c.*862_*889del	ENSP00000512824.1:n.*862_*889del
ENST00000422285.7:c.*234_*261del MANE Select	ENSP00000394382.2:n.*234_*261del
ENST00000379806.9:c.*234_*261del	ENSP00000369134.5:n.*234_*261del
ENST00000422285.6:c.*234_*261del	ENSP00000394382.2:n.*234_*261del
ENST00000540249.5:c.*234_*261del	ENSP00000440761.1:n.*234_*261del
ENST00000545074.5:c.*234_*261del	ENSP00000438550.1:n.*234_*261del
NM_000284.3:c.*234_*261del	NP_000275.1:n.*234_*261del
NM_001173454.1:c.*234_*261del	NP_001166925.1:n.*234_*261del
NM_001173455.1:c.*234_*261del	NP_001166926.1:n.*234_*261del
NM_001173456.1:c.*234_*261del	NP_001166927.1:n.*234_*261del
XM_011545531.1:c.*234_*261del	XP_011543833.1:n.*234_*261del
XM_011545532.1:c.*234_*261del	XP_011543834.1:n.*234_*261del
NM_000284.4:c.*234_*261del MANE Select	NP_000275.1:n.*234_*261del
NM_001173454.2:c.*234_*261del	NP_001166925.1:n.*234_*261del
NM_001173455.2:c.*234_*261del	NP_001166926.1:n.*234_*261del
NM_001173456.2:c.*234_*261del	NP_001166927.1:n.*234_*261del