Canonical Allele Identifier: CA2611598740
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373411-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373413del , CM000672.2:g.133373413del GRCh38
NC_000010.10:g.135186917del , CM000672.1:g.135186917del GRCh37
NC_000010.9:g.135036907del NCBI36
NG_042077.1:g.4993del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-79del ENSP00000357535.3:n.-79del
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Search 100 bp 3'