Canonical Allele Identifier: CA2574717548
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373427del , CM000672.2:g.133373427del GRCh38
NC_000010.10:g.135186931del , CM000672.1:g.135186931del GRCh37
NC_000010.9:g.135036921del NCBI36
NG_042077.1:g.4979del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-93del ENSP00000357535.3:n.-93del