Canonical Allele Identifier: CA2611598780
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373436del , CM000672.2:g.133373436del GRCh38
NC_000010.10:g.135186940del , CM000672.1:g.135186940del GRCh37
NC_000010.9:g.135036930del NCBI36
NG_042077.1:g.4971del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-101del ENSP00000357535.3:n.-101del