Canonical Allele Identifier: CA2658208853
Gene: HADHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26238822_26238832del , CM000664.2:g.26238822_26238832del GRCh38
NC_000002.11:g.26461690_26461700del , CM000664.1:g.26461690_26461700del GRCh37
NC_000002.10:g.26315194_26315204del NCBI36
NG_007121.1:g.10792_10802del
NG_007121.2:g.10792_10802del

Transcript Alleles

HGVS Amino-acid change
ENST00000380649.8:c.180+104_180+114del MANE Select ENSP00000370023.3:n.180+104_180+114del
ENST00000471743.2:n.191+104_191+114del
ENST00000492433.2:c.180+104_180+114del ENSP00000438039.2:n.180+104_180+114del
ENST00000643057.1:c.*71+104_*71+114del ENSP00000493761.1:n.*71+104_*71+114del
ENST00000643063.1:c.180+104_180+114del ENSP00000495353.1:n.180+104_180+114del
ENST00000643233.1:c.*71+104_*71+114del ENSP00000493880.1:n.*71+104_*71+114del
ENST00000644428.1:c.180+104_180+114del ENSP00000495560.1:n.180+104_180+114del
ENST00000645274.1:c.180+104_180+114del ENSP00000493996.1:n.180+104_180+114del
ENST00000646483.1:c.180+104_180+114del ENSP00000496185.1:n.180+104_180+114del
ENST00000380649.7:c.180+104_180+114del ENSP00000370023.3:n.180+104_180+114del
NM_000182.4:c.180+104_180+114del NP_000173.2:n.180+104_180+114del
NM_000182.5:c.180+104_180+114del MANE Select NP_000173.2:n.180+104_180+114del