Canonical Allele Identifier: CA661965919
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1484052050
MyVariant Identifiers: chr10:g.135186851_135186876del (hg19) chr10:g.133373347_133373372del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373354_133373379del , CM000672.2:g.133373354_133373379del GRCh38
NC_000010.10:g.135186858_135186883del , CM000672.1:g.135186858_135186883del GRCh37
NC_000010.9:g.135036848_135036873del NCBI36
NG_042077.1:g.5033_5058del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-39_-14del ENSP00000357535.3:n.-39_-14del
NM_004092.3:c.-39_-14del NP_004083.3:n.-39_-14del
XR_002956965.1:n.25_50del
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