Canonical Allele Identifier: CA2611598621
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373301-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373302del , CM000672.2:g.133373302del GRCh38
NC_000010.10:g.135186806del , CM000672.1:g.135186806del GRCh37
NC_000010.9:g.135036796del NCBI36
NG_042077.1:g.5103del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.32del MANE Select ENSP00000357535.3:p.Val11AlafsTer5
ENST00000368547.3:c.32del ENSP00000357535.3:p.Val11AlafsTer5
NM_004092.3:c.32del NP_004083.3:p.Val11AlafsTer5
XR_002956965.1:n.95del
NM_004092.4:c.32del MANE Select NP_004083.3:p.Val11AlafsTer5
Search 100 bp 5'
Search 100 bp 3'