Canonical Allele Identifier: CA1131434818

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063254611
• gnomAD v3: X-19359794-T-TCGCCG
• gnomAD v4: X-19359794-T-TCGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359794_19359795insCGCCG , CM000685.2:g.19359794_19359795insCGCCG	GRCh38
NC_000023.10:g.19377912_19377913insCGCCG , CM000685.1:g.19377912_19377913insCGCCG	GRCh37
NC_000023.9:g.19287833_19287834insCGCCG	NCBI36
NG_016781.1:g.20902_20903insCGCCG
NG_021184.1:g.160467_160468insCGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*141_*142insCGCCG	ENSP00000348062.6:n.*141_*142insCGCCG
ENST00000379805.4:c.*1006_*1007insCGCCG	ENSP00000369133.3:n.*1006_*1007insCGCCG
ENST00000417819.6:c.*141_*142insCGCCG	ENSP00000404616.2:n.*141_*142insCGCCG
ENST00000423505.6:c.*141_*142insCGCCG	ENSP00000406473.2:n.*141_*142insCGCCG
ENST00000481733.2:n.1109_1110insCGCCG
ENST00000696704.1:c.*646_*647insCGCCG	ENSP00000512823.1:n.*646_*647insCGCCG
ENST00000696705.1:c.*769_*770insCGCCG	ENSP00000512824.1:n.*769_*770insCGCCG
ENST00000422285.7:c.*141_*142insCGCCG MANE Select	ENSP00000394382.2:n.*141_*142insCGCCG
ENST00000379804.1:c.*141_*142insCGCCG	ENSP00000369132.1:n.*141_*142insCGCCG
ENST00000379806.9:c.*141_*142insCGCCG	ENSP00000369134.5:n.*141_*142insCGCCG
ENST00000422285.6:c.*141_*142insCGCCG	ENSP00000394382.2:n.*141_*142insCGCCG
ENST00000478795.1:n.753_754insCGCCG
ENST00000540249.5:c.*141_*142insCGCCG	ENSP00000440761.1:n.*141_*142insCGCCG
ENST00000545074.5:c.*141_*142insCGCCG	ENSP00000438550.1:n.*141_*142insCGCCG
NM_000284.3:c.*141_*142insCGCCG	NP_000275.1:n.*141_*142insCGCCG
NM_001173454.1:c.*141_*142insCGCCG	NP_001166925.1:n.*141_*142insCGCCG
NM_001173455.1:c.*141_*142insCGCCG	NP_001166926.1:n.*141_*142insCGCCG
NM_001173456.1:c.*141_*142insCGCCG	NP_001166927.1:n.*141_*142insCGCCG
XM_011545531.1:c.*141_*142insCGCCG	XP_011543833.1:n.*141_*142insCGCCG
XM_011545532.1:c.*141_*142insCGCCG	XP_011543834.1:n.*141_*142insCGCCG
XM_017029574.2:c.*141_*142insCGCCG	XP_016885063.1:n.*141_*142insCGCCG
NM_000284.4:c.*141_*142insCGCCG MANE Select	NP_000275.1:n.*141_*142insCGCCG
NM_001173454.2:c.*141_*142insCGCCG	NP_001166925.1:n.*141_*142insCGCCG
NM_001173455.2:c.*141_*142insCGCCG	NP_001166926.1:n.*141_*142insCGCCG
NM_001173456.2:c.*141_*142insCGCCG	NP_001166927.1:n.*141_*142insCGCCG