Canonical Allele Identifier: CA2611598580
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373224-CCAGCTCTCACCGCGCACTCACCCGAGGCGAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373225_133373255del , CM000672.2:g.133373225_133373255del GRCh38
NC_000010.10:g.135186729_135186759del , CM000672.1:g.135186729_135186759del GRCh37
NC_000010.9:g.135036719_135036749del NCBI36
NG_042077.1:g.5150_5180del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.79_88+21del
ENST00000368547.3:c.79_88+21del
NM_004092.3:c.79_88+21del
XR_002956965.1:n.142_151+21del
NM_004092.4:c.79_88+21del
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