Canonical Allele Identifier: CA10363111

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2197688
• ClinVar RCV Id: RCV002640225
• dbSNP Id: rs760402170
• ExAC: X:19373789 CCT / C
• gnomAD v2: X-19373789-CCT-C
• gnomAD v3: X-19355671-CCT-C
• gnomAD v4: X-19355671-CCT-C
• MyVariant Identifiers: chrX:g.19373790_19373791del (hg19) ; chrX:g.19355672_19355673del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355672_19355673del , CM000685.2:g.19355672_19355673del	GRCh38
NC_000023.10:g.19373790_19373791del , CM000685.1:g.19373790_19373791del	GRCh37
NC_000023.9:g.19283711_19283712del	NCBI36
NG_016781.1:g.16780_16781del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.781-14_781-13del	ENSP00000348062.6:n.781-14_781-13del
ENST00000379805.4:c.*452-14_*452-13del	ENSP00000369133.3:n.*452-14_*452-13del
ENST00000417819.6:c.844-14_844-13del	ENSP00000404616.2:n.844-14_844-13del
ENST00000423505.6:c.874-14_874-13del	ENSP00000406473.2:n.874-14_874-13del
ENST00000481733.2:n.555-14_555-13del
ENST00000696704.1:c.*92-14_*92-13del	ENSP00000512823.1:n.*92-14_*92-13del
ENST00000696705.1:c.*215-14_*215-13del	ENSP00000512824.1:n.*215-14_*215-13del
ENST00000422285.7:c.760-14_760-13del MANE Select	ENSP00000394382.2:n.760-14_760-13del
ENST00000379804.1:c.-98_-97del	ENSP00000369132.1:n.-98_-97del
ENST00000379806.9:c.874-14_874-13del	ENSP00000369134.5:n.874-14_874-13del
ENST00000422285.6:c.760-14_760-13del	ENSP00000394382.2:n.760-14_760-13del
ENST00000481733.1:n.188-14_188-13del
ENST00000540249.5:c.667-14_667-13del	ENSP00000440761.1:n.667-14_667-13del
ENST00000545074.5:c.781-14_781-13del	ENSP00000438550.1:n.781-14_781-13del
NM_000284.3:c.760-14_760-13del	NP_000275.1:n.760-14_760-13del
NM_001173454.1:c.874-14_874-13del	NP_001166925.1:n.874-14_874-13del
NM_001173455.1:c.781-14_781-13del	NP_001166926.1:n.781-14_781-13del
NM_001173456.1:c.667-14_667-13del	NP_001166927.1:n.667-14_667-13del
XM_011545531.1:c.895-14_895-13del	XP_011543833.1:n.895-14_895-13del
XM_011545532.1:c.802-14_802-13del	XP_011543834.1:n.802-14_802-13del
XM_017029574.2:c.781-14_781-13del	XP_016885063.1:n.781-14_781-13del
NM_000284.4:c.760-14_760-13del MANE Select	NP_000275.1:n.760-14_760-13del
NM_001173454.2:c.874-14_874-13del	NP_001166925.1:n.874-14_874-13del
NM_001173455.2:c.781-14_781-13del	NP_001166926.1:n.781-14_781-13del
NM_001173456.2:c.667-14_667-13del	NP_001166927.1:n.667-14_667-13del