Canonical Allele Identifier: CA2740092779

Gene: HADHA

Linked Data

• ClinVar Variation Id: 2942406
• ClinVar RCV Id: RCV003805620

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204099dup , CM000664.2:g.26204099dup	GRCh38
NC_000002.11:g.26426968dup , CM000664.1:g.26426968dup	GRCh37
NC_000002.10:g.26280472dup	NCBI36
NG_007121.1:g.45522dup
NG_007121.2:g.45523dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1183dup MANE Select	ENSP00000370023.3:p.Thr395AsnfsTer16
ENST00000492433.2:c.1183dup	ENSP00000438039.2:p.Thr395AsnfsTer16
ENST00000643057.1:c.*1074dup	ENSP00000493761.1:n.*1074dup
ENST00000643063.1:c.*229dup	ENSP00000495353.1:n.*229dup
ENST00000643233.1:c.*1074dup	ENSP00000493880.1:n.*1074dup
ENST00000644428.1:c.1183dup	ENSP00000495560.1:p.Thr395AsnfsTer16
ENST00000645274.1:c.1078dup	ENSP00000493996.1:p.Thr360AsnfsTer16
ENST00000646031.1:c.542dup
ENST00000646483.1:c.1049dup	ENSP00000496185.1:n.1049dup
ENST00000380649.7:c.1183dup	ENSP00000370023.3:p.Thr395AsnfsTer16
NM_000182.4:c.1183dup	NP_000173.2:p.Thr395AsnfsTer16
NM_000182.5:c.1183dup MANE Select	NP_000173.2:p.Thr395AsnfsTer16