Canonical Allele Identifier: CA2658208966

Gene: HADHA

Linked Data

• gnomAD v4: 2-26238934-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26238937del , CM000664.2:g.26238937del	GRCh38
NC_000002.11:g.26461805del , CM000664.1:g.26461805del	GRCh37
NC_000002.10:g.26315309del	NCBI36
NG_007121.1:g.10687del
NG_007121.2:g.10687del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.179del MANE Select	ENSP00000370023.3:p.Lys60ArgfsTer2
ENST00000471743.2:n.190del
ENST00000492433.2:c.179del	ENSP00000438039.2:p.Lys60ArgfsTer2
ENST00000643057.1:c.*70del	ENSP00000493761.1:n.*70del
ENST00000643063.1:c.179del	ENSP00000495353.1:p.Lys60ArgfsTer2
ENST00000643233.1:c.*70del	ENSP00000493880.1:n.*70del
ENST00000644428.1:c.179del	ENSP00000495560.1:p.Lys60ArgfsTer2
ENST00000645274.1:c.179del	ENSP00000493996.1:p.Lys60ArgfsTer2
ENST00000646483.1:c.179del	ENSP00000496185.1:p.Lys60SerfsTer?
ENST00000380649.7:c.179del	ENSP00000370023.3:p.Lys60ArgfsTer2
NM_000182.4:c.179del	NP_000173.2:p.Lys60ArgfsTer2
NM_000182.5:c.179del MANE Select	NP_000173.2:p.Lys60ArgfsTer2