Canonical Allele Identifier: CA2693251557

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359982-C-CTCACAGCATTCTACCAACCATA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359983_19360004dup , CM000685.2:g.19359983_19360004dup	GRCh38
NC_000023.10:g.19378101_19378122dup , CM000685.1:g.19378101_19378122dup	GRCh37
NC_000023.9:g.19288022_19288043dup	NCBI36
NG_016781.1:g.21091_21112dup
NG_021184.1:g.160258_160279dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*330_*351dup	ENSP00000348062.6:n.*330_*351dup
ENST00000423505.6:c.*330_*351dup	ENSP00000406473.2:n.*330_*351dup
ENST00000696704.1:c.*835_*856dup	ENSP00000512823.1:n.*835_*856dup
ENST00000696705.1:c.*958_*979dup	ENSP00000512824.1:n.*958_*979dup
ENST00000422285.7:c.*330_*351dup MANE Select	ENSP00000394382.2:n.*330_*351dup
ENST00000379806.9:c.*330_*351dup	ENSP00000369134.5:n.*330_*351dup
ENST00000422285.6:c.*330_*351dup	ENSP00000394382.2:n.*330_*351dup
ENST00000540249.5:c.*330_*351dup	ENSP00000440761.1:n.*330_*351dup
ENST00000545074.5:c.*330_*351dup	ENSP00000438550.1:n.*330_*351dup
NM_000284.3:c.*330_*351dup	NP_000275.1:n.*330_*351dup
NM_001173454.1:c.*330_*351dup	NP_001166925.1:n.*330_*351dup
NM_001173455.1:c.*330_*351dup	NP_001166926.1:n.*330_*351dup
NM_001173456.1:c.*330_*351dup	NP_001166927.1:n.*330_*351dup
XM_011545531.1:c.*330_*351dup	XP_011543833.1:n.*330_*351dup
XM_011545532.1:c.*330_*351dup	XP_011543834.1:n.*330_*351dup
NM_000284.4:c.*330_*351dup MANE Select	NP_000275.1:n.*330_*351dup
NM_001173454.2:c.*330_*351dup	NP_001166925.1:n.*330_*351dup
NM_001173455.2:c.*330_*351dup	NP_001166926.1:n.*330_*351dup
NM_001173456.2:c.*330_*351dup	NP_001166927.1:n.*330_*351dup