Canonical Allele Identifier: CA2418225810

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359880_19359908delinsTGAACAAATACTCTAATTATGAAAAGGAA , CM000685.2:g.19359880_19359908delinsTGAACAAATACTCTAATTATGAAAAGGAA	GRCh38
NC_000023.10:g.19377998_19378026delinsTGAACAAATACTCTAATTATGAAAAGGAA , CM000685.1:g.19377998_19378026delinsTGAACAAATACTCTAATTATGAAAAGGAA	GRCh37
NC_000023.9:g.19287919_19287947delinsTGAACAAATACTCTAATTATGAAAAGGAA	NCBI36
NG_016781.1:g.20988_21016delinsTGAACAAATACTCTAATTATGAAAAGGAA
NG_021184.1:g.160354_160382delinsTTCCTTTTCATAATTAGAGTATTTGTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA	ENSP00000348062.6:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAG...
ENST00000423505.6:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA	ENSP00000406473.2:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAG...
ENST00000696704.1:c.*732_*760delinsTGAACAAATACTCTAATTATGAAAAGGAA	ENSP00000512823.1:n.*732_*760delinsTGAACAAATACTCTAATTATGAAAAG...
ENST00000696705.1:c.*855_*883delinsTGAACAAATACTCTAATTATGAAAAGGAA	ENSP00000512824.1:n.*855_*883delinsTGAACAAATACTCTAATTATGAAAAG...
ENST00000422285.7:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA MANE Select	ENSP00000394382.2:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAG...
ENST00000379806.9:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA	ENSP00000369134.5:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAG...
ENST00000422285.6:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA	ENSP00000394382.2:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAG...
ENST00000540249.5:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA	ENSP00000440761.1:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAG...
ENST00000545074.5:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA	ENSP00000438550.1:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAG...
NM_000284.3:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA	NP_000275.1:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA
NM_001173454.1:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA	NP_001166925.1:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA...
NM_001173455.1:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA	NP_001166926.1:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA...
NM_001173456.1:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA	NP_001166927.1:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA...
XM_011545531.1:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA	XP_011543833.1:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA...
XM_011545532.1:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA	XP_011543834.1:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA...
NM_000284.4:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA MANE Select	NP_000275.1:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA
NM_001173454.2:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA	NP_001166925.1:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA...
NM_001173455.2:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA	NP_001166926.1:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA...
NM_001173456.2:c.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA	NP_001166927.1:n.*227_*255delinsTGAACAAATACTCTAATTATGAAAAGGAA...