Canonical Allele Identifier: CA2611598613
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373258-GACGCCAGGCGGGACAGCGAACCGGGGGCCTCAGCGGGCCGCGGA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373259_133373302del , CM000672.2:g.133373259_133373302del GRCh38
NC_000010.10:g.135186763_135186806del , CM000672.1:g.135186763_135186806del GRCh37
NC_000010.9:g.135036753_135036796del NCBI36
NG_042077.1:g.5103_5146del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.32_75del MANE Select ENSP00000357535.3:p.Val11AlafsTer7
ENST00000368547.3:c.32_75del ENSP00000357535.3:p.Val11AlafsTer7
NM_004092.3:c.32_75del NP_004083.3:p.Val11AlafsTer7
XR_002956965.1:n.95_138del
NM_004092.4:c.32_75del MANE Select NP_004083.3:p.Val11AlafsTer7
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