Canonical Allele Identifier: CA2374469779
Gene: COL9A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62832097_62832122delinsGCTCACTTTAGGGATTCCTGCCATTC , CM000682.2:g.62832097_62832122delinsGCTCACTTTAGGGATTCCTGCCATTC GRCh38
NC_000020.10:g.61463449_61463474delinsGCTCACTTTAGGGATTCCTGCCATTC , CM000682.1:g.61463449_61463474delinsGCTCACTTTAGGGATTCCTGCCATTC GRCh37
NC_000020.9:g.60933894_60933919delinsGCTCACTTTAGGGATTCCTGCCATTC NCBI36
NG_016353.1:g.20036_20061delinsGCTCACTTTAGGGATTCCTGCCATTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000649368.1:c.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTGCCATTC MANE Select ENSP00000496793.1:n.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTG...
ENST00000343916.7:c.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTGCCATTC ENSP00000341640.3:n.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTG...
ENST00000466192.5:n.958_983delinsGCTCACTTTAGGGATTCCTGCCATTC
ENST00000469852.5:n.527_552delinsGCTCACTTTAGGGATTCCTGCCATTC
ENST00000481800.1:n.261-57_261-32delinsGCTCACTTTAGGGATTCCTGCCATTC
ENST00000490398.5:n.85-57_85-32delinsGCTCACTTTAGGGATTCCTGCCATTC
NM_001853.3:c.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTGCCATTC NP_001844.3:n.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTGCCATTC...
XM_011528543.1:c.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTGCCATTC XP_011526845.1:n.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTGCCA...
XM_011528544.1:c.1081-57_1081-32delinsGCTCACTTTAGGGATTCCTGCCATTC XP_011526846.1:n.1081-57_1081-32delinsGCTCACTTTAGGGATTCCTGCCA...
XM_011528545.1:c.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTGCCATTC XP_011526847.1:n.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTGCCA...
XM_011528546.1:c.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTGCCATTC XP_011526848.1:n.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTGCCA...
XM_011528547.1:c.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTGCCATTC XP_011526849.1:n.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTGCCA...
XR_936499.1:n.1289-57_1289-32delinsGCTCACTTTAGGGATTCCTGCCATTC
NM_001853.4:c.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTGCCATTC MANE Select NP_001844.3:n.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTGCCATTC...
XM_017027666.1:c.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTGCCATTC XP_016883155.1:n.1288-57_1288-32delinsGCTCACTTTAGGGATTCCTGCCA...