Canonical Allele Identifier: CA1239706452
Gene: HADHA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26204238_26204249delinsAATCATTTCAGT , CM000664.2:g.26204238_26204249delinsAATCATTTCAGT GRCh38
NC_000002.11:g.26427107_26427118delinsAATCATTTCAGT , CM000664.1:g.26427107_26427118delinsAATCATTTCAGT GRCh37
NC_000002.10:g.26280611_26280622delinsAATCATTTCAGT NCBI36
NG_007121.1:g.45372_45383delinsACTGAAATGATT
NG_007121.2:g.45373_45384delinsACTGAAATGATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1086-53_1086-42delinsACTGAAATGATT MANE Select ENSP00000370023.3:n.1086-53_1086-42delinsACTGAAATGATT
ENST00000492433.2:c.1086-53_1086-42delinsACTGAAATGATT ENSP00000438039.2:n.1086-53_1086-42delinsACTGAAATGATT
ENST00000643057.1:c.*977-53_*977-42delinsACTGAAATGATT ENSP00000493761.1:n.*977-53_*977-42delinsACTGAAATGATT
ENST00000643063.1:c.*132-53_*132-42delinsACTGAAATGATT ENSP00000495353.1:n.*132-53_*132-42delinsACTGAAATGATT
ENST00000643233.1:c.*977-53_*977-42delinsACTGAAATGATT ENSP00000493880.1:n.*977-53_*977-42delinsACTGAAATGATT
ENST00000644428.1:c.1086-53_1086-42delinsACTGAAATGATT ENSP00000495560.1:n.1086-53_1086-42delinsACTGAAATGATT
ENST00000645274.1:c.981-53_981-42delinsACTGAAATGATT ENSP00000493996.1:n.981-53_981-42delinsACTGAAATGATT
ENST00000646031.1:c.445-53_445-42delinsACTGAAATGATT
ENST00000646483.1:c.952-53_952-42delinsACTGAAATGATT ENSP00000496185.1:n.952-53_952-42delinsACTGAAATGATT
ENST00000380649.7:c.1086-53_1086-42delinsACTGAAATGATT ENSP00000370023.3:n.1086-53_1086-42delinsACTGAAATGATT
NM_000182.4:c.1086-53_1086-42delinsACTGAAATGATT NP_000173.2:n.1086-53_1086-42delinsACTGAAATGATT
NM_000182.5:c.1086-53_1086-42delinsACTGAAATGATT MANE Select NP_000173.2:n.1086-53_1086-42delinsACTGAAATGATT