Canonical Allele Identifier: CA2611598718
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373397-CGCTCCGCCCACAGGCCAGCGCCGCGAGACCAGGCGGCCCTCGCGAGATCAGCCCGGGCAGAGTGAGCGGGTCGCTCTCCGCCAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373400_133373483del , CM000672.2:g.133373400_133373483del GRCh38
NC_000010.10:g.135186904_135186987del , CM000672.1:g.135186904_135186987del GRCh37
NC_000010.9:g.135036894_135036977del NCBI36
NG_042077.1:g.4924_5007del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-148_-65del ENSP00000357535.3:n.-148_-65del
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