Canonical Allele Identifier: CA918798907
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1589884911
gnomAD v4: 10-133373303-C-CGCAGGACA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373312_133373319dup , CM000672.2:g.133373312_133373319dup GRCh38
NC_000010.10:g.135186816_135186823dup , CM000672.1:g.135186816_135186823dup GRCh37
NC_000010.9:g.135036806_135036813dup NCBI36
NG_042077.1:g.5094_5101dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.23_30dup MANE Select ENSP00000357535.3:p.Val11CysfsTer8
ENST00000368547.3:c.23_30dup ENSP00000357535.3:p.Val11CysfsTer8
NM_004092.3:c.23_30dup NP_004083.3:p.Val11CysfsTer8
XR_002956965.1:n.86_93dup
NM_004092.4:c.23_30dup MANE Select NP_004083.3:p.Val11CysfsTer8
Search 100 bp 5'
Search 100 bp 3'