Canonical Allele Identifier: CA2740092780

Gene: HADHA

Linked Data

• ClinVar Variation Id: 3034661
• ClinVar RCV Id: RCV004537000

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204202del , CM000664.2:g.26204202del	GRCh38
NC_000002.11:g.26427071del , CM000664.1:g.26427071del	GRCh37
NC_000002.10:g.26280575del	NCBI36
NG_007121.1:g.45420del
NG_007121.2:g.45421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1086-5del MANE Select	ENSP00000370023.3:n.1086-5del
ENST00000492433.2:c.1086-5del	ENSP00000438039.2:n.1086-5del
ENST00000643057.1:c.*977-5del	ENSP00000493761.1:n.*977-5del
ENST00000643063.1:c.*132-5del	ENSP00000495353.1:n.*132-5del
ENST00000643233.1:c.*977-5del	ENSP00000493880.1:n.*977-5del
ENST00000644428.1:c.1086-5del	ENSP00000495560.1:n.1086-5del
ENST00000645274.1:c.981-5del	ENSP00000493996.1:n.981-5del
ENST00000646031.1:c.445-5del
ENST00000646483.1:c.952-5del	ENSP00000496185.1:n.952-5del
ENST00000380649.7:c.1086-5del	ENSP00000370023.3:n.1086-5del
NM_000182.4:c.1086-5del	NP_000173.2:n.1086-5del
NM_000182.5:c.1086-5del MANE Select	NP_000173.2:n.1086-5del