Canonical Allele Identifier: CA2842524568
Gene: ECHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366036dup , CM000672.2:g.133366036dup GRCh38
NC_000010.10:g.135179540dup , CM000672.1:g.135179540dup GRCh37
NC_000010.9:g.135029530dup NCBI36
NG_042077.1:g.12369dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.679dup MANE Select ENSP00000357535.3:p.Glu227GlyfsTer8
ENST00000368547.3:c.679dup ENSP00000357535.3:p.Glu227GlyfsTer8
NM_004092.3:c.679dup NP_004083.3:p.Glu227GlyfsTer8
XR_002956965.1:n.1535dup
NM_004092.4:c.679dup MANE Select NP_004083.3:p.Glu227GlyfsTer8
Search 100 bp 5'
Search 100 bp 3'