Canonical Allele Identifier: CA2819937225

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359845_19359846insATGCAGTTTGTAC , CM000685.2:g.19359845_19359846insATGCAGTTTGTAC	GRCh38
NC_000023.10:g.19377963_19377964insATGCAGTTTGTAC , CM000685.1:g.19377963_19377964insATGCAGTTTGTAC	GRCh37
NC_000023.9:g.19287884_19287885insATGCAGTTTGTAC	NCBI36
NG_016781.1:g.20953_20954insATGCAGTTTGTAC
NG_021184.1:g.160417_160418insTACAAACTGCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*192_*193insATGCAGTTTGTAC	ENSP00000348062.6:n.*192_*193insATGCAGTTTGTAC
ENST00000423505.6:c.*192_*193insATGCAGTTTGTAC	ENSP00000406473.2:n.*192_*193insATGCAGTTTGTAC
ENST00000481733.2:n.1160_1161insATGCAGTTTGTAC
ENST00000696704.1:c.*697_*698insATGCAGTTTGTAC	ENSP00000512823.1:n.*697_*698insATGCAGTTTGTAC
ENST00000696705.1:c.*820_*821insATGCAGTTTGTAC	ENSP00000512824.1:n.*820_*821insATGCAGTTTGTAC
ENST00000422285.7:c.*192_*193insATGCAGTTTGTAC MANE Select	ENSP00000394382.2:n.*192_*193insATGCAGTTTGTAC
ENST00000379806.9:c.*192_*193insATGCAGTTTGTAC	ENSP00000369134.5:n.*192_*193insATGCAGTTTGTAC
ENST00000422285.6:c.*192_*193insATGCAGTTTGTAC	ENSP00000394382.2:n.*192_*193insATGCAGTTTGTAC
ENST00000540249.5:c.*192_*193insATGCAGTTTGTAC	ENSP00000440761.1:n.*192_*193insATGCAGTTTGTAC
ENST00000545074.5:c.*192_*193insATGCAGTTTGTAC	ENSP00000438550.1:n.*192_*193insATGCAGTTTGTAC
NM_000284.3:c.*192_*193insATGCAGTTTGTAC	NP_000275.1:n.*192_*193insATGCAGTTTGTAC
NM_001173454.1:c.*192_*193insATGCAGTTTGTAC	NP_001166925.1:n.*192_*193insATGCAGTTTGTAC
NM_001173455.1:c.*192_*193insATGCAGTTTGTAC	NP_001166926.1:n.*192_*193insATGCAGTTTGTAC
NM_001173456.1:c.*192_*193insATGCAGTTTGTAC	NP_001166927.1:n.*192_*193insATGCAGTTTGTAC
XM_011545531.1:c.*192_*193insATGCAGTTTGTAC	XP_011543833.1:n.*192_*193insATGCAGTTTGTAC
XM_011545532.1:c.*192_*193insATGCAGTTTGTAC	XP_011543834.1:n.*192_*193insATGCAGTTTGTAC
NM_000284.4:c.*192_*193insATGCAGTTTGTAC MANE Select	NP_000275.1:n.*192_*193insATGCAGTTTGTAC
NM_001173454.2:c.*192_*193insATGCAGTTTGTAC	NP_001166925.1:n.*192_*193insATGCAGTTTGTAC
NM_001173455.2:c.*192_*193insATGCAGTTTGTAC	NP_001166926.1:n.*192_*193insATGCAGTTTGTAC
NM_001173456.2:c.*192_*193insATGCAGTTTGTAC	NP_001166927.1:n.*192_*193insATGCAGTTTGTAC