Canonical Allele Identifier: CA2693251345

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359655-G-GGGAGGAGAAGGAGAGGTTATACCTTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359658_19359684dup , CM000685.2:g.19359658_19359684dup	GRCh38
NC_000023.10:g.19377776_19377802dup , CM000685.1:g.19377776_19377802dup	GRCh37
NC_000023.9:g.19287697_19287723dup	NCBI36
NG_016781.1:g.20766_20792dup
NG_021184.1:g.160580_160606dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.*5_*31dup	ENSP00000348062.6:n.*5_*31dup
ENST00000379805.4:c.*870_*896dup	ENSP00000369133.3:n.*870_*896dup
ENST00000417819.6:c.*5_*31dup	ENSP00000404616.2:n.*5_*31dup
ENST00000423505.6:c.*5_*31dup	ENSP00000406473.2:n.*5_*31dup
ENST00000481733.2:n.973_999dup
ENST00000696704.1:c.*510_*536dup	ENSP00000512823.1:n.*510_*536dup
ENST00000696705.1:c.*633_*659dup	ENSP00000512824.1:n.*633_*659dup
ENST00000422285.7:c.*5_*31dup MANE Select	ENSP00000394382.2:n.*5_*31dup
ENST00000379804.1:c.*5_*31dup	ENSP00000369132.1:n.*5_*31dup
ENST00000379806.9:c.*5_*31dup	ENSP00000369134.5:n.*5_*31dup
ENST00000422285.6:c.*5_*31dup	ENSP00000394382.2:n.*5_*31dup
ENST00000478795.1:n.617_643dup
ENST00000540249.5:c.*5_*31dup	ENSP00000440761.1:n.*5_*31dup
ENST00000545074.5:c.*5_*31dup	ENSP00000438550.1:n.*5_*31dup
NM_000284.3:c.*5_*31dup	NP_000275.1:n.*5_*31dup
NM_001173454.1:c.*5_*31dup	NP_001166925.1:n.*5_*31dup
NM_001173455.1:c.*5_*31dup	NP_001166926.1:n.*5_*31dup
NM_001173456.1:c.*5_*31dup	NP_001166927.1:n.*5_*31dup
XM_011545531.1:c.*5_*31dup	XP_011543833.1:n.*5_*31dup
XM_011545532.1:c.*5_*31dup	XP_011543834.1:n.*5_*31dup
XM_017029574.2:c.*5_*31dup	XP_016885063.1:n.*5_*31dup
NM_000284.4:c.*5_*31dup MANE Select	NP_000275.1:n.*5_*31dup
NM_001173454.2:c.*5_*31dup	NP_001166925.1:n.*5_*31dup
NM_001173455.2:c.*5_*31dup	NP_001166926.1:n.*5_*31dup
NM_001173456.2:c.*5_*31dup	NP_001166927.1:n.*5_*31dup