Canonical Allele Identifier: CA5765693
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs757127640
ExAC: 10:135179618 AGT / A
gnomAD v2: 10-135179618-AGT-A
gnomAD v4: 10-133366114-AGT-A
MyVariant Identifiers: chr10:g.135179619_135179620del (hg19) chr10:g.133366115_133366116del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366116_133366117del , CM000672.2:g.133366116_133366117del GRCh38
NC_000010.10:g.135179620_135179621del , CM000672.1:g.135179620_135179621del GRCh37
NC_000010.9:g.135029610_135029611del NCBI36
NG_042077.1:g.12289_12290del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-21_620-20del MANE Select ENSP00000357535.3:n.620-21_620-20del
ENST00000368547.3:c.620-21_620-20del ENSP00000357535.3:n.620-21_620-20del
NM_004092.3:c.620-21_620-20del NP_004083.3:n.620-21_620-20del
XR_002956965.1:n.1455_1456del
NM_004092.4:c.620-21_620-20del MANE Select NP_004083.3:n.620-21_620-20del
Search 100 bp 5'
Search 100 bp 3'