Canonical Allele Identifier: CA2693249872

Gene: PDHA1

Linked Data

• gnomAD v4: X-19351502-TTTTAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19351506_19351511del , CM000685.2:g.19351506_19351511del	GRCh38
NC_000023.10:g.19369624_19369629del , CM000685.1:g.19369624_19369629del	GRCh37
NC_000023.9:g.19279545_19279550del	NCBI36
NG_016781.1:g.12614_12619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.439+99_439+104del	ENSP00000348062.6:n.439+99_439+104del
ENST00000379805.4:c.418+99_418+104del	ENSP00000369133.3:n.418+99_418+104del
ENST00000417819.6:c.502+99_502+104del	ENSP00000404616.2:n.502+99_502+104del
ENST00000423505.6:c.532+99_532+104del	ENSP00000406473.2:n.532+99_532+104del
ENST00000696704.1:c.418+99_418+104del	ENSP00000512823.1:n.418+99_418+104del
ENST00000696705.1:c.418+99_418+104del	ENSP00000512824.1:n.418+99_418+104del
ENST00000422285.7:c.418+99_418+104del MANE Select	ENSP00000394382.2:n.418+99_418+104del
ENST00000355808.9:c.439+99_439+104del	ENSP00000348062.5:n.439+99_439+104del
ENST00000379805.3:c.418+99_418+104del	ENSP00000369133.3:n.418+99_418+104del
ENST00000379806.9:c.532+99_532+104del	ENSP00000369134.5:n.532+99_532+104del
ENST00000422285.6:c.418+99_418+104del	ENSP00000394382.2:n.418+99_418+104del
ENST00000423505.5:c.532+99_532+104del	ENSP00000406473.1:n.532+99_532+104del
ENST00000540249.5:c.418+99_418+104del	ENSP00000440761.1:n.418+99_418+104del
ENST00000545074.5:c.439+99_439+104del	ENSP00000438550.1:n.439+99_439+104del
NM_000284.3:c.418+99_418+104del	NP_000275.1:n.418+99_418+104del
NM_001173454.1:c.532+99_532+104del	NP_001166925.1:n.532+99_532+104del
NM_001173455.1:c.439+99_439+104del	NP_001166926.1:n.439+99_439+104del
NM_001173456.1:c.418+99_418+104del	NP_001166927.1:n.418+99_418+104del
XM_011545531.1:c.553+99_553+104del	XP_011543833.1:n.553+99_553+104del
XM_011545532.1:c.553+99_553+104del	XP_011543834.1:n.553+99_553+104del
XM_017029574.2:c.532+99_532+104del	XP_016885063.1:n.532+99_532+104del
NM_000284.4:c.418+99_418+104del MANE Select	NP_000275.1:n.418+99_418+104del
NM_001173454.2:c.532+99_532+104del	NP_001166925.1:n.532+99_532+104del
NM_001173455.2:c.439+99_439+104del	NP_001166926.1:n.439+99_439+104del
NM_001173456.2:c.418+99_418+104del	NP_001166927.1:n.418+99_418+104del