Canonical Allele Identifier: CA2611598772
Gene: ECHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133373430_133373431insTCTCG , CM000672.2:g.133373430_133373431insTCTCG GRCh38
NC_000010.10:g.135186934_135186935insTCTCG , CM000672.1:g.135186934_135186935insTCTCG GRCh37
NC_000010.9:g.135036924_135036925insTCTCG NCBI36
NG_042077.1:g.4975_4976insGAGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000368547.3:c.-97_-96insGAGAC ENSP00000357535.3:n.-97_-96insGAGAC