Canonical Allele Identifier: CA2574717524
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2440019
ClinVar RCV Id: RCV003144919
gnomAD v4: 10-133373280-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373285dup , CM000672.2:g.133373285dup GRCh38
NC_000010.10:g.135186789dup , CM000672.1:g.135186789dup GRCh37
NC_000010.9:g.135036779dup NCBI36
NG_042077.1:g.5124dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.53dup MANE Select ENSP00000357535.3:p.Val19GlyfsTer14
ENST00000368547.3:c.53dup ENSP00000357535.3:p.Val19GlyfsTer14
NM_004092.3:c.53dup NP_004083.3:p.Val19GlyfsTer14
XR_002956965.1:n.116dup
NM_004092.4:c.53dup MANE Select NP_004083.3:p.Val19GlyfsTer14
Search 100 bp 5'
Search 100 bp 3'