Canonical Allele Identifier: CA2249011143
Gene: COX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208513_14208514delinsGT , CM000679.2:g.14208513_14208514delinsGT GRCh38
NC_000017.10:g.14111830_14111831delinsGT , CM000679.1:g.14111830_14111831delinsGT GRCh37
NC_000017.9:g.14052555_14052556delinsGT NCBI36
NG_008034.1:g.144112_144113delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261643.8:c.*1300_*1301delinsGT MANE Select ENSP00000261643.3:n.*1300_*1301delinsGT
ENST00000664217.1:c.*56-41_*56-40delinsGT ENSP00000499396.1:n.*56-41_*56-40delinsGT
ENST00000670279.1:c.929-996_929-995delinsGT ENSP00000499450.1:n.929-996_929-995delinsGT
ENST00000261643.7:c.*1300_*1301delinsGT ENSP00000261643.3:n.*1300_*1301delinsGT
NM_001303.3:c.*1300_*1301delinsGT NP_001294.2:n.*1300_*1301delinsGT
XM_011523658.1:c.*1300_*1301delinsGT XP_011521960.1:n.*1300_*1301delinsGT
XR_933974.1:n.1032-996_1032-995delinsGT
NM_001303.4:c.*1300_*1301delinsGT MANE Select NP_001294.2:n.*1300_*1301delinsGT