Canonical Allele Identifier: CA2249011308
Gene: COX10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.14208851_14208856delinsGATGTT , CM000679.2:g.14208851_14208856delinsGATGTT GRCh38
NC_000017.10:g.14112168_14112173delinsGATGTT , CM000679.1:g.14112168_14112173delinsGATGTT GRCh37
NC_000017.9:g.14052893_14052898delinsGATGTT NCBI36
NG_008034.1:g.144450_144455delinsGATGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000664217.1:c.*281+72_*281+77delinsGATGTT ENSP00000499396.1:n.*281+72_*281+77delinsGATGTT
ENST00000670279.1:c.929-658_929-653delinsGATGTT ENSP00000499450.1:n.929-658_929-653delinsGATGTT
XR_933974.1:n.1032-658_1032-653delinsGATGTT