Canonical Allele Identifier: CA596741456
Gene: ECHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1162583795
gnomAD v2: 10-135179633-G-GA
gnomAD v3: 10-133366129-G-GA
gnomAD v4: 10-133366129-G-GA
MyVariant Identifiers: chr10:g.135179633_135179634insA (hg19) chr10:g.133366129_133366130insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133366132dup , CM000672.2:g.133366132dup GRCh38
NC_000010.10:g.135179636dup , CM000672.1:g.135179636dup GRCh37
NC_000010.9:g.135029626dup NCBI36
NG_042077.1:g.12275dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.620-35dup MANE Select ENSP00000357535.3:n.620-35dup
ENST00000368547.3:c.620-35dup ENSP00000357535.3:n.620-35dup
NM_004092.3:c.620-35dup NP_004083.3:n.620-35dup
XR_002956965.1:n.1441dup
NM_004092.4:c.620-35dup MANE Select NP_004083.3:n.620-35dup
Search 100 bp 5'
Search 100 bp 3'