Canonical Allele Identifier: CA2611598626
Gene: ECHS1 HGNC NCBI

Linked Data

gnomAD v4: 10-133373332-A-ATGGCTCTC
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373336_133373343dup , CM000672.2:g.133373336_133373343dup GRCh38
NC_000010.10:g.135186840_135186847dup , CM000672.1:g.135186840_135186847dup GRCh37
NC_000010.9:g.135036830_135036837dup NCBI36
NG_042077.1:g.5065_5072dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.4:c.-7_1dup MANE Select ENSP00000357535.3:p.Met1ArgfsTer18
ENST00000368547.3:c.-7_1dup ENSP00000357535.3:p.Met1ArgfsTer18
NM_004092.3:c.-7_1dup NP_004083.3:p.Met1ArgfsTer18
XR_002956965.1:n.57_64dup
NM_004092.4:c.-7_1dup MANE Select NP_004083.3:p.Met1ArgfsTer18
Search 100 bp 5'
Search 100 bp 3'