Canonical Allele Identifier: CA2831038802

Gene: HADHA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204186_26204187dup , CM000664.2:g.26204186_26204187dup	GRCh38
NC_000002.11:g.26427055_26427056dup , CM000664.1:g.26427055_26427056dup	GRCh37
NC_000002.10:g.26280559_26280560dup	NCBI36
NG_007121.1:g.45435_45436dup
NG_007121.2:g.45436_45437dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1096_1097dup MANE Select	ENSP00000370023.3:p.Leu367PhefsTer6
ENST00000492433.2:c.1096_1097dup	ENSP00000438039.2:p.Leu367PhefsTer6
ENST00000643057.1:c.*987_*988dup	ENSP00000493761.1:n.*987_*988dup
ENST00000643063.1:c.*142_*143dup	ENSP00000495353.1:n.*142_*143dup
ENST00000643233.1:c.*987_*988dup	ENSP00000493880.1:n.*987_*988dup
ENST00000644428.1:c.1096_1097dup	ENSP00000495560.1:p.Leu367PhefsTer6
ENST00000645274.1:c.991_992dup	ENSP00000493996.1:p.Leu332PhefsTer6
ENST00000646031.1:c.455_456dup
ENST00000646483.1:c.962_963dup	ENSP00000496185.1:n.962_963dup
ENST00000380649.7:c.1096_1097dup	ENSP00000370023.3:p.Leu367PhefsTer6
NM_000182.4:c.1096_1097dup	NP_000173.2:p.Leu367PhefsTer6
NM_000182.5:c.1096_1097dup MANE Select	NP_000173.2:p.Leu367PhefsTer6