Canonical Allele Identifier: CA1131451457

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063173286
• gnomAD v3: X-19353032-CTTTGTAGAGTTGG-C
• gnomAD v4: X-19353032-CTTTGTAGAGTTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19353038_19353050del , CM000685.2:g.19353038_19353050del	GRCh38
NC_000023.10:g.19371156_19371168del , CM000685.1:g.19371156_19371168del	GRCh37
NC_000023.9:g.19281077_19281089del	NCBI36
NG_016781.1:g.14146_14158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.440-44_440-32del	ENSP00000348062.6:n.440-44_440-32del
ENST00000379805.4:c.419-44_419-32del	ENSP00000369133.3:n.419-44_419-32del
ENST00000417819.6:c.503-44_503-32del	ENSP00000404616.2:n.503-44_503-32del
ENST00000423505.6:c.533-44_533-32del	ENSP00000406473.2:n.533-44_533-32del
ENST00000696704.1:c.418+1631_418+1643del	ENSP00000512823.1:n.418+1631_418+1643del
ENST00000696705.1:c.419-1453_419-1441del	ENSP00000512824.1:n.419-1453_419-1441del
ENST00000422285.7:c.419-44_419-32del MANE Select	ENSP00000394382.2:n.419-44_419-32del
ENST00000355808.9:c.440-44_440-32del	ENSP00000348062.5:n.440-44_440-32del
ENST00000379805.3:c.419-44_419-32del	ENSP00000369133.3:n.419-44_419-32del
ENST00000379806.9:c.533-44_533-32del	ENSP00000369134.5:n.533-44_533-32del
ENST00000422285.6:c.419-44_419-32del	ENSP00000394382.2:n.419-44_419-32del
ENST00000423505.5:c.533-44_533-32del	ENSP00000406473.1:n.533-44_533-32del
ENST00000479146.1:n.210_222del
ENST00000540249.5:c.419-44_419-32del	ENSP00000440761.1:n.419-44_419-32del
ENST00000545074.5:c.440-44_440-32del	ENSP00000438550.1:n.440-44_440-32del
NM_000284.3:c.419-44_419-32del	NP_000275.1:n.419-44_419-32del
NM_001173454.1:c.533-44_533-32del	NP_001166925.1:n.533-44_533-32del
NM_001173455.1:c.440-44_440-32del	NP_001166926.1:n.440-44_440-32del
NM_001173456.1:c.419-44_419-32del	NP_001166927.1:n.419-44_419-32del
XM_011545531.1:c.554-44_554-32del	XP_011543833.1:n.554-44_554-32del
XM_011545532.1:c.554-44_554-32del	XP_011543834.1:n.554-44_554-32del
XM_017029574.2:c.533-44_533-32del	XP_016885063.1:n.533-44_533-32del
NM_000284.4:c.419-44_419-32del MANE Select	NP_000275.1:n.419-44_419-32del
NM_001173454.2:c.533-44_533-32del	NP_001166925.1:n.533-44_533-32del
NM_001173455.2:c.440-44_440-32del	NP_001166926.1:n.440-44_440-32del
NM_001173456.2:c.419-44_419-32del	NP_001166927.1:n.419-44_419-32del