Canonical Allele Identifier: CA2586964620
Gene: HADHA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26238953del , CM000664.2:g.26238953del GRCh38
NC_000002.11:g.26461821del , CM000664.1:g.26461821del GRCh37
NC_000002.10:g.26315325del NCBI36
NG_007121.1:g.10670del
NG_007121.2:g.10670del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.162del MANE Select ENSP00000370023.3:p.Asn55ThrfsTer7
ENST00000471743.2:n.173del
ENST00000492433.2:c.162del ENSP00000438039.2:p.Asn55ThrfsTer7
ENST00000643057.1:c.*53del ENSP00000493761.1:n.*53del
ENST00000643063.1:c.162del ENSP00000495353.1:p.Asn55ThrfsTer7
ENST00000643233.1:c.*53del ENSP00000493880.1:n.*53del
ENST00000644428.1:c.162del ENSP00000495560.1:p.Asn55ThrfsTer7
ENST00000645274.1:c.162del ENSP00000493996.1:p.Asn55ThrfsTer7
ENST00000646483.1:c.162del ENSP00000496185.1:p.Asn55ThrfsTer?
ENST00000380649.7:c.162del ENSP00000370023.3:p.Asn55ThrfsTer7
NM_000182.4:c.162del NP_000173.2:p.Asn55ThrfsTer7
NM_000182.5:c.162del MANE Select NP_000173.2:p.Asn55ThrfsTer7