Canonical Allele Identifier: CA2611597152

Gene: ECHS1

Linked Data

• gnomAD v4: 10-133366104-CAAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366108_133366111del , CM000672.2:g.133366108_133366111del	GRCh38
NC_000010.10:g.135179612_135179615del , CM000672.1:g.135179612_135179615del	GRCh37
NC_000010.9:g.135029602_135029605del	NCBI36
NG_042077.1:g.12297_12300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.620-13_620-10del MANE Select	ENSP00000357535.3:n.620-13_620-10del
ENST00000368547.3:c.620-13_620-10del	ENSP00000357535.3:n.620-13_620-10del
NM_004092.3:c.620-13_620-10del	NP_004083.3:n.620-13_620-10del
XR_002956965.1:n.1463_1466del
NM_004092.4:c.620-13_620-10del MANE Select	NP_004083.3:n.620-13_620-10del