Canonical Allele Identifier: CA2611597206
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133366190-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366191del , CM000672.2:g.133366191del GRCh38
NC_000010.10:g.135179695del , CM000672.1:g.135179695del GRCh37
NC_000010.9:g.135029685del NCBI36
NG_042077.1:g.12214del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-96del MANE Select ENSP00000357535.3:n.620-96del
ENST00000368547.3:c.620-96del ENSP00000357535.3:n.620-96del
NM_004092.3:c.620-96del NP_004083.3:n.620-96del
XR_002956965.1:n.1380del
NM_004092.4:c.620-96del MANE Select NP_004083.3:n.620-96del
Search 100 bp 5'
Search 100 bp 3'