Canonical Allele Identifier: CA2831038801

Gene: HADHA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204117del , CM000664.2:g.26204117del	GRCh38
NC_000002.11:g.26426986del , CM000664.1:g.26426986del	GRCh37
NC_000002.10:g.26280490del	NCBI36
NG_007121.1:g.45504del
NG_007121.2:g.45505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1165del MANE Select	ENSP00000370023.3:p.Asp391MetfsTer7
ENST00000492433.2:c.1165del	ENSP00000438039.2:p.Asp391MetfsTer7
ENST00000643057.1:c.*1056del	ENSP00000493761.1:n.*1056del
ENST00000643063.1:c.*211del	ENSP00000495353.1:n.*211del
ENST00000643233.1:c.*1056del	ENSP00000493880.1:n.*1056del
ENST00000644428.1:c.1165del	ENSP00000495560.1:p.Asp391MetfsTer7
ENST00000645274.1:c.1060del	ENSP00000493996.1:p.Asp356MetfsTer7
ENST00000646031.1:c.524del
ENST00000646483.1:c.1031del	ENSP00000496185.1:n.1031del
ENST00000380649.7:c.1165del	ENSP00000370023.3:p.Asp391MetfsTer7
NM_000182.4:c.1165del	NP_000173.2:p.Asp391MetfsTer7
NM_000182.5:c.1165del MANE Select	NP_000173.2:p.Asp391MetfsTer7