Canonical Allele Identifier: CA1239706358
Gene: HADHA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26204001_26204004delinsAAAC , CM000664.2:g.26204001_26204004delinsAAAC GRCh38
NC_000002.11:g.26426870_26426873delinsAAAC , CM000664.1:g.26426870_26426873delinsAAAC GRCh37
NC_000002.10:g.26280374_26280377delinsAAAC NCBI36
NG_007121.1:g.45617_45620delinsGTTT
NG_007121.2:g.45618_45621delinsGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1220+58_1220+61delinsGTTT MANE Select ENSP00000370023.3:n.1220+58_1220+61delinsGTTT
ENST00000492433.2:c.1220+58_1220+61delinsGTTT ENSP00000438039.2:n.1220+58_1220+61delinsGTTT
ENST00000643057.1:c.*1111+58_*1111+61delinsGTTT ENSP00000493761.1:n.*1111+58_*1111+61delinsGTTT
ENST00000643063.1:c.*266+58_*266+61delinsGTTT ENSP00000495353.1:n.*266+58_*266+61delinsGTTT
ENST00000643233.1:c.*1111+58_*1111+61delinsGTTT ENSP00000493880.1:n.*1111+58_*1111+61delinsGTTT
ENST00000644428.1:c.1220+58_1220+61delinsGTTT ENSP00000495560.1:n.1220+58_1220+61delinsGTTT
ENST00000645274.1:c.1115+58_1115+61delinsGTTT ENSP00000493996.1:n.1115+58_1115+61delinsGTTT
ENST00000646031.1:c.579+58_579+61delinsGTTT
ENST00000646483.1:c.1086+58_1086+61delinsGTTT ENSP00000496185.1:n.1086+58_1086+61delinsGTTT
ENST00000380649.7:c.1220+58_1220+61delinsGTTT ENSP00000370023.3:n.1220+58_1220+61delinsGTTT
NM_000182.4:c.1220+58_1220+61delinsGTTT NP_000173.2:n.1220+58_1220+61delinsGTTT
NM_000182.5:c.1220+58_1220+61delinsGTTT MANE Select NP_000173.2:n.1220+58_1220+61delinsGTTT