Canonical Allele Identifier: CA1131434803

Gene: PDHA1

Linked Data

• gnomAD v3: X-19359791-TAGTAATTG-T
• gnomAD v4: X-19359791-TAGTAATTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359792_19359799del , CM000685.2:g.19359792_19359799del	GRCh38
NC_000023.10:g.19377910_19377917del , CM000685.1:g.19377910_19377917del	GRCh37
NC_000023.9:g.19287831_19287838del	NCBI36
NG_016781.1:g.20900_20907del
NG_021184.1:g.160463_160470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*139_*146del	ENSP00000348062.6:n.*139_*146del
ENST00000379805.4:c.*1004_*1011del	ENSP00000369133.3:n.*1004_*1011del
ENST00000417819.6:c.*139_*146del	ENSP00000404616.2:n.*139_*146del
ENST00000423505.6:c.*139_*146del	ENSP00000406473.2:n.*139_*146del
ENST00000481733.2:n.1107_1114del
ENST00000696704.1:c.*644_*651del	ENSP00000512823.1:n.*644_*651del
ENST00000696705.1:c.*767_*774del	ENSP00000512824.1:n.*767_*774del
ENST00000422285.7:c.*139_*146del MANE Select	ENSP00000394382.2:n.*139_*146del
ENST00000379804.1:c.*139_*146del	ENSP00000369132.1:n.*139_*146del
ENST00000379806.9:c.*139_*146del	ENSP00000369134.5:n.*139_*146del
ENST00000422285.6:c.*139_*146del	ENSP00000394382.2:n.*139_*146del
ENST00000478795.1:n.751_758del
ENST00000540249.5:c.*139_*146del	ENSP00000440761.1:n.*139_*146del
ENST00000545074.5:c.*139_*146del	ENSP00000438550.1:n.*139_*146del
NM_000284.3:c.*139_*146del	NP_000275.1:n.*139_*146del
NM_001173454.1:c.*139_*146del	NP_001166925.1:n.*139_*146del
NM_001173455.1:c.*139_*146del	NP_001166926.1:n.*139_*146del
NM_001173456.1:c.*139_*146del	NP_001166927.1:n.*139_*146del
XM_011545531.1:c.*139_*146del	XP_011543833.1:n.*139_*146del
XM_011545532.1:c.*139_*146del	XP_011543834.1:n.*139_*146del
XM_017029574.2:c.*139_*146del	XP_016885063.1:n.*139_*146del
NM_000284.4:c.*139_*146del MANE Select	NP_000275.1:n.*139_*146del
NM_001173454.2:c.*139_*146del	NP_001166925.1:n.*139_*146del
NM_001173455.2:c.*139_*146del	NP_001166926.1:n.*139_*146del
NM_001173456.2:c.*139_*146del	NP_001166927.1:n.*139_*146del