Canonical Allele Identifier: CA934177059
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1849141080
gnomAD v3: 10-133373244-AC-A
gnomAD v4: 10-133373244-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373247del , CM000672.2:g.133373247del GRCh38
NC_000010.10:g.135186751del , CM000672.1:g.135186751del GRCh37
NC_000010.9:g.135036741del NCBI36
NG_042077.1:g.5160del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.88+1del
ENST00000368547.3:c.88+1del
NM_004092.3:c.88+1del
XR_002956965.1:n.151+1del
NM_004092.4:c.88+1del
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