Canonical Allele Identifier: CA2611598637
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373341-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373343del , CM000672.2:g.133373343del GRCh38
NC_000010.10:g.135186847del , CM000672.1:g.135186847del GRCh37
NC_000010.9:g.135036837del NCBI36
NG_042077.1:g.5063del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.-9del MANE Select ENSP00000357535.3:n.-9del
ENST00000368547.3:c.-9del ENSP00000357535.3:n.-9del
NM_004092.3:c.-9del NP_004083.3:n.-9del
XR_002956965.1:n.55del
NM_004092.4:c.-9del MANE Select NP_004083.3:n.-9del
Search 100 bp 5'
Search 100 bp 3'