Canonical Allele Identifier: CA2658210956
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26192515_26192516insAGCCACCAC , CM000664.2:g.26192515_26192516insAGCCACCAC GRCh38
NC_000002.11:g.26415384_26415385insAGCCACCAC , CM000664.1:g.26415384_26415385insAGCCACCAC GRCh37
NC_000002.10:g.26268888_26268889insAGCCACCAC NCBI36
NG_007121.1:g.57105_57106insGTGGTGGCT
NG_007121.2:g.57106_57107insGTGGTGGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1886-92_1886-91insGTGGTGGCT (HADHA) MANE Select ENSP00000370023.3:n.1886-92_1886-91insGTGGTGGCT
ENST00000492433.2:c.1886-92_1886-91insGTGGTGGCT (HADHA) ENSP00000438039.2:n.1886-92_1886-91insGTGGTGGCT
ENST00000643057.1:c.*1777-92_*1777-91insGTGGTGGCT (HADHA) ENSP00000493761.1:n.*1777-92_*1777-91insGTGGTGGCT
ENST00000643063.1:c.*932-92_*932-91insGTGGTGGCT (HADHA) ENSP00000495353.1:n.*932-92_*932-91insGTGGTGGCT
ENST00000643233.1:c.*1777-92_*1777-91insGTGGTGGCT (HADHA) ENSP00000493880.1:n.*1777-92_*1777-91insGTGGTGGCT
ENST00000644428.1:c.*510-92_*510-91insGTGGTGGCT (HADHA) ENSP00000495560.1:n.*510-92_*510-91insGTGGTGGCT
ENST00000645274.1:c.1781-92_1781-91insGTGGTGGCT (HADHA) ENSP00000493996.1:n.1781-92_1781-91insGTGGTGGCT
ENST00000646031.1:c.1245-92_1245-91insGTGGTGGCT (HADHA)
ENST00000646483.1:c.1752-92_1752-91insGTGGTGGCT (HADHA) ENSP00000496185.1:n.1752-92_1752-91insGTGGTGGCT
ENST00000380649.7:c.1886-92_1886-91insGTGGTGGCT (HADHA) ENSP00000370023.3:n.1886-92_1886-91insGTGGTGGCT
ENST00000492433.1:c.344-92_344-91insGTGGTGGCT (HADHA) ENSP00000438039.1:n.344-92_344-91insGTGGTGGCT
NM_000182.4:c.1886-92_1886-91insGTGGTGGCT (HADHA) NP_000173.2:n.1886-92_1886-91insGTGGTGGCT
XM_011532567.1:c.1683+5200_1683+5201insAGCCACCAC (GAREM2) XP_011530869.1:n.1683+5200_1683+5201insAGCCACCAC
XM_011532567.3:c.1683+5200_1683+5201insAGCCACCAC (GAREM2) XP_011530869.1:n.1683+5200_1683+5201insAGCCACCAC
NM_000182.5:c.1886-92_1886-91insGTGGTGGCT (HADHA) MANE Select NP_000173.2:n.1886-92_1886-91insGTGGTGGCT