Canonical Allele Identifier: CA2749233062

Gene: HADHA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26203991_26203992insA , CM000664.2:g.26203991_26203992insA	GRCh38
NC_000002.11:g.26426860_26426861insA , CM000664.1:g.26426860_26426861insA	GRCh37
NC_000002.10:g.26280364_26280365insA	NCBI36
NG_007121.1:g.45629_45630insT
NG_007121.2:g.45630_45631insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1220+70_1220+71insT MANE Select	ENSP00000370023.3:n.1220+70_1220+71insT
ENST00000492433.2:c.1220+70_1220+71insT	ENSP00000438039.2:n.1220+70_1220+71insT
ENST00000643057.1:c.*1111+70_*1111+71insT	ENSP00000493761.1:n.*1111+70_*1111+71insT
ENST00000643063.1:c.*266+70_*266+71insT	ENSP00000495353.1:n.*266+70_*266+71insT
ENST00000643233.1:c.*1111+70_*1111+71insT	ENSP00000493880.1:n.*1111+70_*1111+71insT
ENST00000644428.1:c.1220+70_1220+71insT	ENSP00000495560.1:n.1220+70_1220+71insT
ENST00000645274.1:c.1115+70_1115+71insT	ENSP00000493996.1:n.1115+70_1115+71insT
ENST00000646031.1:c.579+70_579+71insT
ENST00000646483.1:c.1086+70_1086+71insT	ENSP00000496185.1:n.1086+70_1086+71insT
ENST00000380649.7:c.1220+70_1220+71insT	ENSP00000370023.3:n.1220+70_1220+71insT
NM_000182.4:c.1220+70_1220+71insT	NP_000173.2:n.1220+70_1220+71insT
NM_000182.5:c.1220+70_1220+71insT MANE Select	NP_000173.2:n.1220+70_1220+71insT