Canonical Allele Identifier: CA2574717533
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373361del , CM000672.2:g.133373361del GRCh38
NC_000010.10:g.135186865del , CM000672.1:g.135186865del GRCh37
NC_000010.9:g.135036855del NCBI36
NG_042077.1:g.5044del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-28del ENSP00000357535.3:n.-28del
NM_004092.3:c.-28del NP_004083.3:n.-28del
XR_002956965.1:n.36del