Canonical Allele Identifier: CA997439301
Gene: DUXA HGNC NCBI

Linked Data

gnomAD v3: 19-57166807-TGTTATGGGGG-T
gnomAD v4: 19-57166807-TGTTATGGGGG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.57166808_57166817del , CM000681.2:g.57166808_57166817del GRCh38
NC_000019.9:g.57678176_57678185del , CM000681.1:g.57678176_57678185del GRCh37
NC_000019.8:g.62369988_62369997del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000554048.3:c.25+602_25+611del MANE Select ENSP00000452398.1:n.25+602_25+611del
ENST00000554048.2:c.25+602_25+611del ENSP00000452398.1:n.25+602_25+611del
NM_001012729.1:c.25+602_25+611del NP_001012747.1:n.25+602_25+611del
NM_001012729.2:c.25+602_25+611del MANE Select NP_001012747.1:n.25+602_25+611del
Search 100 bp 5'
Search 100 bp 3'