Canonical Allele Identifier: CA2611598612
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373253-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373255del , CM000672.2:g.133373255del GRCh38
NC_000010.10:g.135186759del , CM000672.1:g.135186759del GRCh37
NC_000010.9:g.135036749del NCBI36
NG_042077.1:g.5151del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.80del MANE Select ENSP00000357535.3:p.Phe27SerfsTer23
ENST00000368547.3:c.80del ENSP00000357535.3:p.Phe27SerfsTer23
NM_004092.3:c.80del NP_004083.3:p.Phe27SerfsTer23
XR_002956965.1:n.143del
NM_004092.4:c.80del MANE Select NP_004083.3:p.Phe27SerfsTer23
Search 100 bp 5'
Search 100 bp 3'