Canonical Allele Identifier: CA2551444697
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26192646_26192647insT , CM000664.2:g.26192646_26192647insT GRCh38
NC_000002.11:g.26415515_26415516insT , CM000664.1:g.26415515_26415516insT GRCh37
NC_000002.10:g.26269019_26269020insT NCBI36
NG_007121.1:g.56974_56975insA
NG_007121.2:g.56975_56976insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1886-223_1886-222insA (HADHA) MANE Select ENSP00000370023.3:n.1886-223_1886-222insA
ENST00000492433.2:c.1886-223_1886-222insA (HADHA) ENSP00000438039.2:n.1886-223_1886-222insA
ENST00000643057.1:c.*1777-223_*1777-222insA (HADHA) ENSP00000493761.1:n.*1777-223_*1777-222insA
ENST00000643063.1:c.*932-223_*932-222insA (HADHA) ENSP00000495353.1:n.*932-223_*932-222insA
ENST00000643233.1:c.*1777-223_*1777-222insA (HADHA) ENSP00000493880.1:n.*1777-223_*1777-222insA
ENST00000644428.1:c.*510-223_*510-222insA (HADHA) ENSP00000495560.1:n.*510-223_*510-222insA
ENST00000645274.1:c.1781-223_1781-222insA (HADHA) ENSP00000493996.1:n.1781-223_1781-222insA
ENST00000646031.1:c.1245-223_1245-222insA (HADHA)
ENST00000646483.1:c.1752-223_1752-222insA (HADHA) ENSP00000496185.1:n.1752-223_1752-222insA
ENST00000380649.7:c.1886-223_1886-222insA (HADHA) ENSP00000370023.3:n.1886-223_1886-222insA
ENST00000492433.1:c.344-223_344-222insA (HADHA) ENSP00000438039.1:n.344-223_344-222insA
NM_000182.4:c.1886-223_1886-222insA (HADHA) NP_000173.2:n.1886-223_1886-222insA
XM_011532567.1:c.1683+5331_1683+5332insT (GAREM2) XP_011530869.1:n.1683+5331_1683+5332insT
XM_011532567.3:c.1683+5331_1683+5332insT (GAREM2) XP_011530869.1:n.1683+5331_1683+5332insT
NM_000182.5:c.1886-223_1886-222insA (HADHA) MANE Select NP_000173.2:n.1886-223_1886-222insA