Canonical Allele Identifier: CA2611598719
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373398_133373407del , CM000672.2:g.133373398_133373407del GRCh38
NC_000010.10:g.135186902_135186911del , CM000672.1:g.135186902_135186911del GRCh37
NC_000010.9:g.135036892_135036901del NCBI36
NG_042077.1:g.4998_5007del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-74_-65del ENSP00000357535.3:n.-74_-65del