Canonical Allele Identifier: CA531392420

Gene: HADHA

Linked Data

• dbSNP Id: rs1558319532
• gnomAD v2: 2-26426955-CG-C
• gnomAD v4: 2-26204086-CG-C
• MyVariant Identifiers: chr2:g.26426956del (hg19) ; chr2:g.26204087del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204088del , CM000664.2:g.26204088del	GRCh38
NC_000002.11:g.26426957del , CM000664.1:g.26426957del	GRCh37
NC_000002.10:g.26280461del	NCBI36
NG_007121.1:g.45534del
NG_007121.2:g.45535del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1195del MANE Select	ENSP00000370023.3:p.Arg399GlufsTer10
ENST00000492433.2:c.1195del	ENSP00000438039.2:p.Arg399GlufsTer10
ENST00000643057.1:c.*1086del	ENSP00000493761.1:n.*1086del
ENST00000643063.1:c.*241del	ENSP00000495353.1:n.*241del
ENST00000643233.1:c.*1086del	ENSP00000493880.1:n.*1086del
ENST00000644428.1:c.1195del	ENSP00000495560.1:p.Arg399GlufsTer10
ENST00000645274.1:c.1090del	ENSP00000493996.1:p.Arg364GlufsTer10
ENST00000646031.1:c.554del
ENST00000646483.1:c.1061del	ENSP00000496185.1:n.1061del
ENST00000380649.7:c.1195del	ENSP00000370023.3:p.Arg399GlufsTer10
NM_000182.4:c.1195del	NP_000173.2:p.Arg399GlufsTer10
NM_000182.5:c.1195del MANE Select	NP_000173.2:p.Arg399GlufsTer10