Canonical Allele Identifier: CA2611598724
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373403_133373404del , CM000672.2:g.133373403_133373404del GRCh38
NC_000010.10:g.135186907_135186908del , CM000672.1:g.135186907_135186908del GRCh37
NC_000010.9:g.135036897_135036898del NCBI36
NG_042077.1:g.5002_5003del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-70_-69del ENSP00000357535.3:n.-70_-69del
NM_004092.3:c.-70_-69del NP_004083.3:n.-70_-69del