Canonical Allele Identifier: CA2611598625
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373330-CCAT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373331_133373333del , CM000672.2:g.133373331_133373333del GRCh38
NC_000010.10:g.135186835_135186837del , CM000672.1:g.135186835_135186837del GRCh37
NC_000010.9:g.135036825_135036827del NCBI36
NG_042077.1:g.5072_5074del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.1_3del MANE Select ENSP00000357535.3:p.Met1del
ENST00000368547.3:c.1_3del ENSP00000357535.3:p.Met1del
NM_004092.3:c.1_3del NP_004083.3:p.Met1del
XR_002956965.1:n.64_66del
NM_004092.4:c.1_3del MANE Select NP_004083.3:p.Met1del
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Search 100 bp 3'