Canonical Allele Identifier: CA10363102

Gene: PDHA1

Linked Data

• dbSNP Id: rs771923478
• ExAC: X:19373664 AAGGG / A
• gnomAD v2: X-19373664-AAGGG-A
• gnomAD v4: X-19355546-AAGGG-A
• MyVariant Identifiers: chrX:g.19373665_19373668del (hg19) ; chrX:g.19355547_19355550del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355547_19355550del , CM000685.2:g.19355547_19355550del	GRCh38
NC_000023.10:g.19373665_19373668del , CM000685.1:g.19373665_19373668del	GRCh37
NC_000023.9:g.19283586_19283589del	NCBI36
NG_016781.1:g.16655_16658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.780+43_780+46del	ENSP00000348062.6:n.780+43_780+46del
ENST00000379805.4:c.*451+43_*451+46del	ENSP00000369133.3:n.*451+43_*451+46del
ENST00000417819.6:c.843+43_843+46del	ENSP00000404616.2:n.843+43_843+46del
ENST00000423505.6:c.873+43_873+46del	ENSP00000406473.2:n.873+43_873+46del
ENST00000481733.2:n.554+43_554+46del
ENST00000696704.1:c.*91+43_*91+46del	ENSP00000512823.1:n.*91+43_*91+46del
ENST00000696705.1:c.*214+43_*214+46del	ENSP00000512824.1:n.*214+43_*214+46del
ENST00000422285.7:c.759+43_759+46del MANE Select	ENSP00000394382.2:n.759+43_759+46del
ENST00000379806.9:c.873+43_873+46del	ENSP00000369134.5:n.873+43_873+46del
ENST00000422285.6:c.759+43_759+46del	ENSP00000394382.2:n.759+43_759+46del
ENST00000481733.1:n.187+43_187+46del
ENST00000540249.5:c.666+43_666+46del	ENSP00000440761.1:n.666+43_666+46del
ENST00000545074.5:c.780+43_780+46del	ENSP00000438550.1:n.780+43_780+46del
NM_000284.3:c.759+43_759+46del	NP_000275.1:n.759+43_759+46del
NM_001173454.1:c.873+43_873+46del	NP_001166925.1:n.873+43_873+46del
NM_001173455.1:c.780+43_780+46del	NP_001166926.1:n.780+43_780+46del
NM_001173456.1:c.666+43_666+46del	NP_001166927.1:n.666+43_666+46del
XM_011545531.1:c.894+43_894+46del	XP_011543833.1:n.894+43_894+46del
XM_011545532.1:c.801+43_801+46del	XP_011543834.1:n.801+43_801+46del
XM_017029574.2:c.780+43_780+46del	XP_016885063.1:n.780+43_780+46del
NM_000284.4:c.759+43_759+46del MANE Select	NP_000275.1:n.759+43_759+46del
NM_001173454.2:c.873+43_873+46del	NP_001166925.1:n.873+43_873+46del
NM_001173455.2:c.780+43_780+46del	NP_001166926.1:n.780+43_780+46del
NM_001173456.2:c.666+43_666+46del	NP_001166927.1:n.666+43_666+46del