Canonical Allele Identifier: CA2611597208
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133366191-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366195del , CM000672.2:g.133366195del GRCh38
NC_000010.10:g.135179699del , CM000672.1:g.135179699del GRCh37
NC_000010.9:g.135029689del NCBI36
NG_042077.1:g.12213del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-97del MANE Select ENSP00000357535.3:n.620-97del
ENST00000368547.3:c.620-97del ENSP00000357535.3:n.620-97del
NM_004092.3:c.620-97del NP_004083.3:n.620-97del
XR_002956965.1:n.1379del
NM_004092.4:c.620-97del MANE Select NP_004083.3:n.620-97del
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Search 100 bp 3'