Canonical Allele Identifier: CA2522383286
Gene: HADHA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26203911_26203912insACAT , CM000664.2:g.26203911_26203912insACAT GRCh38
NC_000002.11:g.26426780_26426781insACAT , CM000664.1:g.26426780_26426781insACAT GRCh37
NC_000002.10:g.26280284_26280285insACAT NCBI36
NG_007121.1:g.45709_45710insATGT
NG_007121.2:g.45710_45711insATGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1220+150_1220+151insATGT MANE Select ENSP00000370023.3:n.1220+150_1220+151insATGT
ENST00000492433.2:c.1220+150_1220+151insATGT ENSP00000438039.2:n.1220+150_1220+151insATGT
ENST00000643057.1:c.*1111+150_*1111+151insATGT ENSP00000493761.1:n.*1111+150_*1111+151insATGT
ENST00000643063.1:c.*266+150_*266+151insATGT ENSP00000495353.1:n.*266+150_*266+151insATGT
ENST00000643233.1:c.*1111+150_*1111+151insATGT ENSP00000493880.1:n.*1111+150_*1111+151insATGT
ENST00000644428.1:c.1220+150_1220+151insATGT ENSP00000495560.1:n.1220+150_1220+151insATGT
ENST00000645274.1:c.1115+150_1115+151insATGT ENSP00000493996.1:n.1115+150_1115+151insATGT
ENST00000646031.1:c.579+150_579+151insATGT
ENST00000646483.1:c.1086+150_1086+151insATGT ENSP00000496185.1:n.1086+150_1086+151insATGT
ENST00000380649.7:c.1220+150_1220+151insATGT ENSP00000370023.3:n.1220+150_1220+151insATGT
NM_000182.4:c.1220+150_1220+151insATGT NP_000173.2:n.1220+150_1220+151insATGT
NM_000182.5:c.1220+150_1220+151insATGT MANE Select NP_000173.2:n.1220+150_1220+151insATGT