Canonical Allele Identifier: CA2611598736
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373407-ACAGGCCAGCGCCGCGAGACCAGGCGGCCCTCGCGAGATCAGCCCGGGCAGAGTGAGCGGGTCGCTCTCCGCCAGGCCCCGCCCC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373414_133373497del , CM000672.2:g.133373414_133373497del GRCh38
NC_000010.10:g.135186918_135187001del , CM000672.1:g.135186918_135187001del GRCh37
NC_000010.9:g.135036908_135036991del NCBI36
NG_042077.1:g.4914_4997del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-158_-75del ENSP00000357535.3:n.-158_-75del
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