Canonical Allele Identifier: CA1239701357
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26192559_26192560delinsGA , CM000664.2:g.26192559_26192560delinsGA GRCh38
NC_000002.11:g.26415428_26415429delinsGA , CM000664.1:g.26415428_26415429delinsGA GRCh37
NC_000002.10:g.26268932_26268933delinsGA NCBI36
NG_007121.1:g.57061_57062delinsTC
NG_007121.2:g.57062_57063delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1886-136_1886-135delinsTC (HADHA) MANE Select ENSP00000370023.3:n.1886-136_1886-135delinsTC
ENST00000492433.2:c.1886-136_1886-135delinsTC (HADHA) ENSP00000438039.2:n.1886-136_1886-135delinsTC
ENST00000643057.1:c.*1777-136_*1777-135delinsTC (HADHA) ENSP00000493761.1:n.*1777-136_*1777-135delinsTC
ENST00000643063.1:c.*932-136_*932-135delinsTC (HADHA) ENSP00000495353.1:n.*932-136_*932-135delinsTC
ENST00000643233.1:c.*1777-136_*1777-135delinsTC (HADHA) ENSP00000493880.1:n.*1777-136_*1777-135delinsTC
ENST00000644428.1:c.*510-136_*510-135delinsTC (HADHA) ENSP00000495560.1:n.*510-136_*510-135delinsTC
ENST00000645274.1:c.1781-136_1781-135delinsTC (HADHA) ENSP00000493996.1:n.1781-136_1781-135delinsTC
ENST00000646031.1:c.1245-136_1245-135delinsTC (HADHA)
ENST00000646483.1:c.1752-136_1752-135delinsTC (HADHA) ENSP00000496185.1:n.1752-136_1752-135delinsTC
ENST00000380649.7:c.1886-136_1886-135delinsTC (HADHA) ENSP00000370023.3:n.1886-136_1886-135delinsTC
ENST00000492433.1:c.344-136_344-135delinsTC (HADHA) ENSP00000438039.1:n.344-136_344-135delinsTC
NM_000182.4:c.1886-136_1886-135delinsTC (HADHA) NP_000173.2:n.1886-136_1886-135delinsTC
XM_011532567.1:c.1683+5244_1683+5245delinsGA (GAREM2) XP_011530869.1:n.1683+5244_1683+5245delinsGA
XM_011532567.3:c.1683+5244_1683+5245delinsGA (GAREM2) XP_011530869.1:n.1683+5244_1683+5245delinsGA
NM_000182.5:c.1886-136_1886-135delinsTC (HADHA) MANE Select NP_000173.2:n.1886-136_1886-135delinsTC