Canonical Allele Identifier: CA661960623
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1235795305
gnomAD v4: 10-133366138-CTT-C
MyVariant Identifiers: chr10:g.135179643_135179644del (hg19) chr10:g.133366139_133366140del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366139_133366140del , CM000672.2:g.133366139_133366140del GRCh38
NC_000010.10:g.135179643_135179644del , CM000672.1:g.135179643_135179644del GRCh37
NC_000010.9:g.135029633_135029634del NCBI36
NG_042077.1:g.12265_12266del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-45_620-44del MANE Select ENSP00000357535.3:n.620-45_620-44del
ENST00000368547.3:c.620-45_620-44del ENSP00000357535.3:n.620-45_620-44del
NM_004092.3:c.620-45_620-44del NP_004083.3:n.620-45_620-44del
XR_002956965.1:n.1431_1432del
NM_004092.4:c.620-45_620-44del MANE Select NP_004083.3:n.620-45_620-44del
Search 100 bp 5'
Search 100 bp 3'