Canonical Allele Identifier: CA1239706392

Gene: HADHA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204086_26204087delinsCG , CM000664.2:g.26204086_26204087delinsCG	GRCh38
NC_000002.11:g.26426955_26426956delinsCG , CM000664.1:g.26426955_26426956delinsCG	GRCh37
NC_000002.10:g.26280459_26280460delinsCG	NCBI36
NG_007121.1:g.45534_45535delinsCG
NG_007121.2:g.45535_45536delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1195_1196delinsCG MANE Select	ENSP00000370023.3:p.Arg399=
ENST00000492433.2:c.1195_1196delinsCG	ENSP00000438039.2:p.Arg399=
ENST00000643057.1:c.*1086_*1087delinsCG	ENSP00000493761.1:n.*1086_*1087delinsCG
ENST00000643063.1:c.*241_*242delinsCG	ENSP00000495353.1:n.*241_*242delinsCG
ENST00000643233.1:c.*1086_*1087delinsCG	ENSP00000493880.1:n.*1086_*1087delinsCG
ENST00000644428.1:c.1195_1196delinsCG	ENSP00000495560.1:p.Arg399=
ENST00000645274.1:c.1090_1091delinsCG	ENSP00000493996.1:p.Arg364=
ENST00000646031.1:c.554_555delinsCG
ENST00000646483.1:c.1061_1062delinsCG	ENSP00000496185.1:n.1061_1062delinsCG
ENST00000380649.7:c.1195_1196delinsCG	ENSP00000370023.3:p.Arg399=
NM_000182.4:c.1195_1196delinsCG	NP_000173.2:p.Arg399=
NM_000182.5:c.1195_1196delinsCG MANE Select	NP_000173.2:p.Arg399=