Canonical Allele Identifier: CA2535783770
Gene: HADHA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26203907_26203908insGTTTTGTTATAGATATCATAG , CM000664.2:g.26203907_26203908insGTTTTGTTATAGATATCATAG GRCh38
NC_000002.11:g.26426776_26426777insGTTTTGTTATAGATATCATAG , CM000664.1:g.26426776_26426777insGTTTTGTTATAGATATCATAG GRCh37
NC_000002.10:g.26280280_26280281insGTTTTGTTATAGATATCATAG NCBI36
NG_007121.1:g.45713_45714insCTATGATATCTATAACAAAAC
NG_007121.2:g.45714_45715insCTATGATATCTATAACAAAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1220+154_1220+155insCTATGATATCTATAACAAAAC MANE Select ENSP00000370023.3:n.1220+154_1220+155insCTATGATATCTATAACAAAAC...
ENST00000492433.2:c.1220+154_1220+155insCTATGATATCTATAACAAAAC ENSP00000438039.2:n.1220+154_1220+155insCTATGATATCTATAACAAAAC...
ENST00000643057.1:c.*1111+154_*1111+155insCTATGATATCTATAACAAAAC ENSP00000493761.1:n.*1111+154_*1111+155insCTATGATATCTATAACAAA...
ENST00000643063.1:c.*266+154_*266+155insCTATGATATCTATAACAAAAC ENSP00000495353.1:n.*266+154_*266+155insCTATGATATCTATAACAAAAC...
ENST00000643233.1:c.*1111+154_*1111+155insCTATGATATCTATAACAAAAC ENSP00000493880.1:n.*1111+154_*1111+155insCTATGATATCTATAACAAA...
ENST00000644428.1:c.1220+154_1220+155insCTATGATATCTATAACAAAAC ENSP00000495560.1:n.1220+154_1220+155insCTATGATATCTATAACAAAAC...
ENST00000645274.1:c.1115+154_1115+155insCTATGATATCTATAACAAAAC ENSP00000493996.1:n.1115+154_1115+155insCTATGATATCTATAACAAAAC...
ENST00000646031.1:c.579+154_579+155insCTATGATATCTATAACAAAAC
ENST00000646483.1:c.1086+154_1086+155insCTATGATATCTATAACAAAAC ENSP00000496185.1:n.1086+154_1086+155insCTATGATATCTATAACAAAAC...
ENST00000380649.7:c.1220+154_1220+155insCTATGATATCTATAACAAAAC ENSP00000370023.3:n.1220+154_1220+155insCTATGATATCTATAACAAAAC...
NM_000182.4:c.1220+154_1220+155insCTATGATATCTATAACAAAAC NP_000173.2:n.1220+154_1220+155insCTATGATATCTATAACAAAAC
NM_000182.5:c.1220+154_1220+155insCTATGATATCTATAACAAAAC MANE Select NP_000173.2:n.1220+154_1220+155insCTATGATATCTATAACAAAAC