Canonical Allele Identifier: CA2572418934

Gene: HADHA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204028_26204029insGC , CM000664.2:g.26204028_26204029insGC	GRCh38
NC_000002.11:g.26426897_26426898insGC , CM000664.1:g.26426897_26426898insGC	GRCh37
NC_000002.10:g.26280401_26280402insGC	NCBI36
NG_007121.1:g.45592_45593insGC
NG_007121.2:g.45593_45594insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1220+33_1220+34insGC MANE Select	ENSP00000370023.3:n.1220+33_1220+34insGC
ENST00000492433.2:c.1220+33_1220+34insGC	ENSP00000438039.2:n.1220+33_1220+34insGC
ENST00000643057.1:c.*1111+33_*1111+34insGC	ENSP00000493761.1:n.*1111+33_*1111+34insGC
ENST00000643063.1:c.*266+33_*266+34insGC	ENSP00000495353.1:n.*266+33_*266+34insGC
ENST00000643233.1:c.*1111+33_*1111+34insGC	ENSP00000493880.1:n.*1111+33_*1111+34insGC
ENST00000644428.1:c.1220+33_1220+34insGC	ENSP00000495560.1:n.1220+33_1220+34insGC
ENST00000645274.1:c.1115+33_1115+34insGC	ENSP00000493996.1:n.1115+33_1115+34insGC
ENST00000646031.1:c.579+33_579+34insGC
ENST00000646483.1:c.1086+33_1086+34insGC	ENSP00000496185.1:n.1086+33_1086+34insGC
ENST00000380649.7:c.1220+33_1220+34insGC	ENSP00000370023.3:n.1220+33_1220+34insGC
NM_000182.4:c.1220+33_1220+34insGC	NP_000173.2:n.1220+33_1220+34insGC
NM_000182.5:c.1220+33_1220+34insGC MANE Select	NP_000173.2:n.1220+33_1220+34insGC