Canonical Allele Identifier: CA2547239424

Gene: HADHA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204032_26204033del , CM000664.2:g.26204032_26204033del	GRCh38
NC_000002.11:g.26426901_26426902del , CM000664.1:g.26426901_26426902del	GRCh37
NC_000002.10:g.26280405_26280406del	NCBI36
NG_007121.1:g.45588_45589del
NG_007121.2:g.45589_45590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1220+29_1220+30del MANE Select	ENSP00000370023.3:n.1220+29_1220+30del
ENST00000492433.2:c.1220+29_1220+30del	ENSP00000438039.2:n.1220+29_1220+30del
ENST00000643057.1:c.*1111+29_*1111+30del	ENSP00000493761.1:n.*1111+29_*1111+30del
ENST00000643063.1:c.*266+29_*266+30del	ENSP00000495353.1:n.*266+29_*266+30del
ENST00000643233.1:c.*1111+29_*1111+30del	ENSP00000493880.1:n.*1111+29_*1111+30del
ENST00000644428.1:c.1220+29_1220+30del	ENSP00000495560.1:n.1220+29_1220+30del
ENST00000645274.1:c.1115+29_1115+30del	ENSP00000493996.1:n.1115+29_1115+30del
ENST00000646031.1:c.579+29_579+30del
ENST00000646483.1:c.1086+29_1086+30del	ENSP00000496185.1:n.1086+29_1086+30del
ENST00000380649.7:c.1220+29_1220+30del	ENSP00000370023.3:n.1220+29_1220+30del
NM_000182.4:c.1220+29_1220+30del	NP_000173.2:n.1220+29_1220+30del
NM_000182.5:c.1220+29_1220+30del MANE Select	NP_000173.2:n.1220+29_1220+30del