Canonical Allele Identifier: CA412389582

Gene: PDHA1

Linked Data

• dbSNP Id: rs1401033946
• gnomAD v2: X-19368040-CTTAT-C
• gnomAD v3: X-19349922-CTTAT-C
• gnomAD v4: X-19349922-CTTAT-C
• MyVariant Identifiers: chrX:g.19368041_19368044del (hg19) ; chrX:g.19349924_19349927del (hg38) ; chrX:g.19349923_19349926del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19349924_19349927del , CM000685.2:g.19349924_19349927del	GRCh38
NC_000023.10:g.19368042_19368045del , CM000685.1:g.19368042_19368045del	GRCh37
NC_000023.9:g.19277963_19277966del	NCBI36
NG_016781.1:g.11032_11035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.118-13_118-10del	ENSP00000348062.6:n.118-13_118-10del
ENST00000379805.4:c.118-13_118-10del	ENSP00000369133.3:n.118-13_118-10del
ENST00000417819.6:c.202-13_202-10del	ENSP00000404616.2:n.202-13_202-10del
ENST00000423505.6:c.232-13_232-10del	ENSP00000406473.2:n.232-13_232-10del
ENST00000696704.1:c.118-13_118-10del	ENSP00000512823.1:n.118-13_118-10del
ENST00000696705.1:c.118-13_118-10del	ENSP00000512824.1:n.118-13_118-10del
ENST00000422285.7:c.118-13_118-10del MANE Select	ENSP00000394382.2:n.118-13_118-10del
ENST00000355808.9:c.118-13_118-10del	ENSP00000348062.5:n.118-13_118-10del
ENST00000379805.3:c.118-13_118-10del	ENSP00000369133.3:n.118-13_118-10del
ENST00000379806.9:c.232-13_232-10del	ENSP00000369134.5:n.232-13_232-10del
ENST00000417819.5:c.202-13_202-10del	ENSP00000404616.1:n.202-13_202-10del
ENST00000422285.6:c.118-13_118-10del	ENSP00000394382.2:n.118-13_118-10del
ENST00000423505.5:c.232-13_232-10del	ENSP00000406473.1:n.232-13_232-10del
ENST00000492364.1:n.220-13_220-10del
ENST00000540249.5:c.118-13_118-10del	ENSP00000440761.1:n.118-13_118-10del
ENST00000545074.5:c.118-13_118-10del	ENSP00000438550.1:n.118-13_118-10del
NM_000284.3:c.118-13_118-10del	NP_000275.1:n.118-13_118-10del
NM_001173454.1:c.232-13_232-10del	NP_001166925.1:n.232-13_232-10del
NM_001173455.1:c.118-13_118-10del	NP_001166926.1:n.118-13_118-10del
NM_001173456.1:c.118-13_118-10del	NP_001166927.1:n.118-13_118-10del
XM_011545531.1:c.232-13_232-10del	XP_011543833.1:n.232-13_232-10del
XM_011545532.1:c.232-13_232-10del	XP_011543834.1:n.232-13_232-10del
XM_017029574.2:c.232-13_232-10del	XP_016885063.1:n.232-13_232-10del
NM_000284.4:c.118-13_118-10del MANE Select	NP_000275.1:n.118-13_118-10del
NM_001173454.2:c.232-13_232-10del	NP_001166925.1:n.232-13_232-10del
NM_001173455.2:c.118-13_118-10del	NP_001166926.1:n.118-13_118-10del
NM_001173456.2:c.118-13_118-10del	NP_001166927.1:n.118-13_118-10del