Canonical Allele Identifier: CA16040880
Gene: HADHA HGNC NCBI

Linked Data

ClinVar Variation Id: 371450
ClinVar RCV Id: RCV000411006
dbSNP Id: rs1057517282
MyVariant Identifiers: chr2:g.26455086del (hg19) chr2:g.26232218del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26232221del , CM000664.2:g.26232221del GRCh38
NC_000002.11:g.26455089del , CM000664.1:g.26455089del GRCh37
NC_000002.10:g.26308593del NCBI36
NG_007121.1:g.17404del
NG_007121.2:g.17404del

Transcript Alleles

HGVS Amino-acid change
ENST00000380649.8:c.515del MANE Select ENSP00000370023.3:p.Pro172LeufsTer29
ENST00000471743.2:n.392del
ENST00000492433.2:c.515del ENSP00000438039.2:p.Pro172LeufsTer29
ENST00000643057.1:c.*406del ENSP00000493761.1:n.*406del
ENST00000643063.1:c.515del ENSP00000495353.1:p.Pro172LeufsTer29
ENST00000643233.1:c.*406del ENSP00000493880.1:n.*406del
ENST00000644428.1:c.515del ENSP00000495560.1:p.Pro172LeufsTer29
ENST00000645274.1:c.454-1924del ENSP00000493996.1:n.454-1924del
ENST00000646483.1:c.381del ENSP00000496185.1:n.381del
ENST00000380649.7:c.515del ENSP00000370023.3:p.Pro172LeufsTer29
ENST00000461025.1:n.415del
NM_000182.4:c.515del NP_000173.2:p.Pro172LeufsTer29
NM_000182.5:c.515del MANE Select NP_000173.2:p.Pro172LeufsTer29
Search 100 bp 5'
Search 100 bp 3'