Canonical Allele Identifier: CA2636210036
Gene: COX10 HGNC NCBI

Linked Data

gnomAD v4: 17-14208546-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208551del , CM000679.2:g.14208551del GRCh38
NC_000017.10:g.14111868del , CM000679.1:g.14111868del GRCh37
NC_000017.9:g.14052593del NCBI36
NG_008034.1:g.144150del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.*1338del MANE Select ENSP00000261643.3:n.*1338del
ENST00000664217.1:c.*56-3del ENSP00000499396.1:n.*56-3del
ENST00000670279.1:c.929-958del ENSP00000499450.1:n.929-958del
ENST00000261643.7:c.*1338del ENSP00000261643.3:n.*1338del
NM_001303.3:c.*1338del NP_001294.2:n.*1338del
XM_011523658.1:c.*1338del XP_011521960.1:n.*1338del
XR_933974.1:n.1032-958del
NM_001303.4:c.*1338del MANE Select NP_001294.2:n.*1338del
Search 100 bp 5'
Search 100 bp 3'