Canonical Allele Identifier: CA2611598673
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373374dup , CM000672.2:g.133373374dup GRCh38
NC_000010.10:g.135186878dup , CM000672.1:g.135186878dup GRCh37
NC_000010.9:g.135036868dup NCBI36
NG_042077.1:g.5035dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-37dup ENSP00000357535.3:n.-37dup
NM_004092.3:c.-37dup NP_004083.3:n.-37dup
XR_002956965.1:n.27dup