Canonical Allele Identifier: CA2611598746
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373414_133373417del , CM000672.2:g.133373414_133373417del GRCh38
NC_000010.10:g.135186918_135186921del , CM000672.1:g.135186918_135186921del GRCh37
NC_000010.9:g.135036908_135036911del NCBI36
NG_042077.1:g.4988_4991del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-84_-81del ENSP00000357535.3:n.-84_-81del