Canonical Allele Identifier: CA312586
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 203747
ClinVar RCV Id: RCV000185938
dbSNP Id: rs796051973
MyVariant Identifiers: chr2:g.26417454_26417460dupGACTTCA (hg19) chr2:g.26417453_26417454insGACTTCA (hg19) chr2:g.26194585_26194591dupGACTTCA (hg38) chr2:g.26194584_26194585insGACTTCA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26194588_26194594dup , CM000664.2:g.26194588_26194594dup GRCh38
NC_000002.11:g.26417457_26417463dup , CM000664.1:g.26417457_26417463dup GRCh37
NC_000002.10:g.26270961_26270967dup NCBI36
NG_007121.1:g.55030_55036dup
NG_007121.2:g.55031_55037dup

Transcript Alleles

HGVS Amino-acid change
ENST00000380649.8:c.1668_1674dup (HADHA) MANE Select ENSP00000370023.3:p.Ile559Ter
ENST00000492433.2:c.1668_1674dup (HADHA) ENSP00000438039.2:p.Ile559Ter
ENST00000643057.1:c.*1559_*1565dup (HADHA) ENSP00000493761.1:n.*1559_*1565dup
ENST00000643063.1:c.*714_*720dup (HADHA) ENSP00000495353.1:n.*714_*720dup
ENST00000643233.1:c.*1559_*1565dup (HADHA) ENSP00000493880.1:n.*1559_*1565dup
ENST00000644428.1:c.*292_*298dup (HADHA) ENSP00000495560.1:n.*292_*298dup
ENST00000645274.1:c.1563_1569dup (HADHA) ENSP00000493996.1:p.Ile524Ter
ENST00000646031.1:c.1027_1033dup (HADHA)
ENST00000646483.1:c.1534_1540dup (HADHA) ENSP00000496185.1:n.1534_1540dup
ENST00000380649.7:c.1668_1674dup (HADHA) ENSP00000370023.3:p.Ile559Ter
ENST00000492433.1:c.126_132dup (HADHA) ENSP00000438039.1:p.Ile45Ter
NM_000182.4:c.1668_1674dup (HADHA) NP_000173.2:p.Ile559Ter
XM_011532567.1:c.1683+7273_1683+7279dup (GAREM2) XP_011530869.1:n.1683+7273_1683+7279dup
XM_011532567.3:c.1683+7273_1683+7279dup (GAREM2) XP_011530869.1:n.1683+7273_1683+7279dup
NM_000182.5:c.1668_1674dup (HADHA) MANE Select NP_000173.2:p.Ile559Ter
Search 100 bp 5'
Search 100 bp 3'