Canonical Allele Identifier: CA2693251448

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359808-T-TTGTACATTAGTGCATTAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359809_19359827dup , CM000685.2:g.19359809_19359827dup	GRCh38
NC_000023.10:g.19377927_19377945dup , CM000685.1:g.19377927_19377945dup	GRCh37
NC_000023.9:g.19287848_19287866dup	NCBI36
NG_016781.1:g.20917_20935dup
NG_021184.1:g.160435_160453dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*156_*174dup	ENSP00000348062.6:n.*156_*174dup
ENST00000417819.6:c.*156_*174dup	ENSP00000404616.2:n.*156_*174dup
ENST00000423505.6:c.*156_*174dup	ENSP00000406473.2:n.*156_*174dup
ENST00000481733.2:n.1124_1142dup
ENST00000696704.1:c.*661_*679dup	ENSP00000512823.1:n.*661_*679dup
ENST00000696705.1:c.*784_*802dup	ENSP00000512824.1:n.*784_*802dup
ENST00000422285.7:c.*156_*174dup MANE Select	ENSP00000394382.2:n.*156_*174dup
ENST00000379804.1:c.*156_*174dup	ENSP00000369132.1:n.*156_*174dup
ENST00000379806.9:c.*156_*174dup	ENSP00000369134.5:n.*156_*174dup
ENST00000422285.6:c.*156_*174dup	ENSP00000394382.2:n.*156_*174dup
ENST00000478795.1:n.768_786dup
ENST00000540249.5:c.*156_*174dup	ENSP00000440761.1:n.*156_*174dup
ENST00000545074.5:c.*156_*174dup	ENSP00000438550.1:n.*156_*174dup
NM_000284.3:c.*156_*174dup	NP_000275.1:n.*156_*174dup
NM_001173454.1:c.*156_*174dup	NP_001166925.1:n.*156_*174dup
NM_001173455.1:c.*156_*174dup	NP_001166926.1:n.*156_*174dup
NM_001173456.1:c.*156_*174dup	NP_001166927.1:n.*156_*174dup
XM_011545531.1:c.*156_*174dup	XP_011543833.1:n.*156_*174dup
XM_011545532.1:c.*156_*174dup	XP_011543834.1:n.*156_*174dup
XM_017029574.2:c.*156_*174dup	XP_016885063.1:n.*156_*174dup
NM_000284.4:c.*156_*174dup MANE Select	NP_000275.1:n.*156_*174dup
NM_001173454.2:c.*156_*174dup	NP_001166925.1:n.*156_*174dup
NM_001173455.2:c.*156_*174dup	NP_001166926.1:n.*156_*174dup
NM_001173456.2:c.*156_*174dup	NP_001166927.1:n.*156_*174dup