Canonical Allele Identifier: CA2574717543
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373406del , CM000672.2:g.133373406del GRCh38
NC_000010.10:g.135186910del , CM000672.1:g.135186910del GRCh37
NC_000010.9:g.135036900del NCBI36
NG_042077.1:g.5001del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-71del ENSP00000357535.3:n.-71del