Canonical Allele Identifier: CA2344305831
Gene: DUXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57166629_57166632delinsTAAC , CM000681.2:g.57166629_57166632delinsTAAC GRCh38
NC_000019.9:g.57677997_57678000delinsTAAC , CM000681.1:g.57677997_57678000delinsTAAC GRCh37
NC_000019.8:g.62369809_62369812delinsTAAC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000554048.3:c.25+787_25+790delinsGTTA MANE Select ENSP00000452398.1:n.25+787_25+790delinsGTTA
ENST00000554048.2:c.25+787_25+790delinsGTTA ENSP00000452398.1:n.25+787_25+790delinsGTTA
NM_001012729.1:c.25+787_25+790delinsGTTA NP_001012747.1:n.25+787_25+790delinsGTTA
NM_001012729.2:c.25+787_25+790delinsGTTA MANE Select NP_001012747.1:n.25+787_25+790delinsGTTA