Canonical Allele Identifier: CA2611598759
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373422_133373437del , CM000672.2:g.133373422_133373437del GRCh38
NC_000010.10:g.135186926_135186941del , CM000672.1:g.135186926_135186941del GRCh37
NC_000010.9:g.135036916_135036931del NCBI36
NG_042077.1:g.4968_4983del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-104_-89del ENSP00000357535.3:n.-104_-89del