Canonical Allele Identifier: CA16040877
Gene: HADHA HGNC NCBI

Linked Data

ClinVar Variation Id: 371204
ClinVar RCV Id: RCV000412311
dbSNP Id: rs1057517087
MyVariant Identifiers: chr2:g.26426949del (hg19) chr2:g.26204080del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26204080del , CM000664.2:g.26204080del GRCh38
NC_000002.11:g.26426949del , CM000664.1:g.26426949del GRCh37
NC_000002.10:g.26280453del NCBI36
NG_007121.1:g.45541del
NG_007121.2:g.45542del

Transcript Alleles

HGVS Amino-acid change
ENST00000380649.8:c.1202del MANE Select ENSP00000370023.3:p.Gln401ArgfsTer8
ENST00000492433.2:c.1202del ENSP00000438039.2:p.Gln401ArgfsTer8
ENST00000643057.1:c.*1093del ENSP00000493761.1:n.*1093del
ENST00000643063.1:c.*248del ENSP00000495353.1:n.*248del
ENST00000643233.1:c.*1093del ENSP00000493880.1:n.*1093del
ENST00000644428.1:c.1202del ENSP00000495560.1:p.Gln401ArgfsTer8
ENST00000645274.1:c.1097del ENSP00000493996.1:p.Gln366ArgfsTer8
ENST00000646031.1:c.561del
ENST00000646483.1:c.1068del ENSP00000496185.1:n.1068del
ENST00000380649.7:c.1202del ENSP00000370023.3:p.Gln401ArgfsTer8
NM_000182.4:c.1202del NP_000173.2:p.Gln401ArgfsTer8
NM_000182.5:c.1202del MANE Select NP_000173.2:p.Gln401ArgfsTer8
Search 100 bp 5'
Search 100 bp 3'