Canonical Allele Identifier: CA1239705188
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26201195_26201197delinsAAC , CM000664.2:g.26201195_26201197delinsAAC GRCh38
NC_000002.11:g.26424064_26424066delinsAAC , CM000664.1:g.26424064_26424066delinsAAC GRCh37
NC_000002.10:g.26277568_26277570delinsAAC NCBI36
NG_007121.1:g.48424_48426delinsGTT
NG_007121.2:g.48425_48427delinsGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1344_1346delinsGTT (HADHA) MANE Select ENSP00000370023.3:p.Val448=
ENST00000492433.2:c.1344_1346delinsGTT (HADHA) ENSP00000438039.2:p.Val448=
ENST00000643057.1:c.*1235_*1237delinsGTT (HADHA) ENSP00000493761.1:n.*1235_*1237delinsGTT
ENST00000643063.1:c.*390_*392delinsGTT (HADHA) ENSP00000495353.1:n.*390_*392delinsGTT
ENST00000643233.1:c.*1235_*1237delinsGTT (HADHA) ENSP00000493880.1:n.*1235_*1237delinsGTT
ENST00000644428.1:c.1344_1346delinsGTT (HADHA) ENSP00000495560.1:p.Val448=
ENST00000645274.1:c.1239_1241delinsGTT (HADHA) ENSP00000493996.1:p.Val413=
ENST00000646031.1:c.703_705delinsGTT (HADHA)
ENST00000646483.1:c.1210_1212delinsGTT (HADHA) ENSP00000496185.1:n.1210_1212delinsGTT
ENST00000380649.7:c.1344_1346delinsGTT (HADHA) ENSP00000370023.3:p.Val448=
NM_000182.4:c.1344_1346delinsGTT (HADHA) NP_000173.2:p.Val448=
XM_011532567.1:c.1684-1038_1684-1036delinsAAC (GAREM2) XP_011530869.1:n.1684-1038_1684-1036delinsAAC
XM_011532567.3:c.1684-1038_1684-1036delinsAAC (GAREM2) XP_011530869.1:n.1684-1038_1684-1036delinsAAC
NM_000182.5:c.1344_1346delinsGTT (HADHA) MANE Select NP_000173.2:p.Val448=