Canonical Allele Identifier: CA2611598618
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373292-CG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373295del , CM000672.2:g.133373295del GRCh38
NC_000010.10:g.135186799del , CM000672.1:g.135186799del GRCh37
NC_000010.9:g.135036789del NCBI36
NG_042077.1:g.5112del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.41del MANE Select ENSP00000357535.3:p.Pro14ArgfsTer2
ENST00000368547.3:c.41del ENSP00000357535.3:p.Pro14ArgfsTer2
NM_004092.3:c.41del NP_004083.3:p.Pro14ArgfsTer2
XR_002956965.1:n.104del
NM_004092.4:c.41del MANE Select NP_004083.3:p.Pro14ArgfsTer2
Search 100 bp 5'
Search 100 bp 3'