Canonical Allele Identifier: CA1946721140
Gene: ECHS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373369_133373370delinsGC , CM000672.2:g.133373369_133373370delinsGC GRCh38
NC_000010.10:g.135186873_135186874delinsGC , CM000672.1:g.135186873_135186874delinsGC GRCh37
NC_000010.9:g.135036863_135036864delinsGC NCBI36
NG_042077.1:g.5035_5036delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-37_-36delinsGC ENSP00000357535.3:n.-37_-36delinsGC
NM_004092.3:c.-37_-36delinsGC NP_004083.3:n.-37_-36delinsGC
XR_002956965.1:n.27_28delinsGC