Canonical Allele Identifier: CA2611597215

Gene: ECHS1

Linked Data

• gnomAD v4: 10-133366199-CTCTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133366200_133366204del , CM000672.2:g.133366200_133366204del	GRCh38
NC_000010.10:g.135179704_135179708del , CM000672.1:g.135179704_135179708del	GRCh37
NC_000010.9:g.135029694_135029698del	NCBI36
NG_042077.1:g.12201_12205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.620-109_620-105del MANE Select	ENSP00000357535.3:n.620-109_620-105del
ENST00000368547.3:c.620-109_620-105del	ENSP00000357535.3:n.620-109_620-105del
NM_004092.3:c.620-109_620-105del	NP_004083.3:n.620-109_620-105del
XR_002956965.1:n.1367_1371del
NM_004092.4:c.620-109_620-105del MANE Select	NP_004083.3:n.620-109_620-105del