Canonical Allele Identifier: CA2790080234
Gene: ECHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373319_133373327dup , CM000672.2:g.133373319_133373327dup GRCh38
NC_000010.10:g.135186823_135186831dup , CM000672.1:g.135186823_135186831dup GRCh37
NC_000010.9:g.135036813_135036821dup NCBI36
NG_042077.1:g.5079_5087dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.8_16dup MANE Select ENSP00000357535.3:p.Arg5_Val6insAlaLeuArg
ENST00000368547.3:c.8_16dup ENSP00000357535.3:p.Arg5_Val6insAlaLeuArg
NM_004092.3:c.8_16dup NP_004083.3:p.Arg5_Val6insAlaLeuArg
XR_002956965.1:n.71_79dup
NM_004092.4:c.8_16dup MANE Select NP_004083.3:p.Arg5_Val6insAlaLeuArg
Search 100 bp 5'
Search 100 bp 3'