Canonical Allele Identifier: CA2577447886
Gene: COL9A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62817593_62817601del , CM000682.2:g.62817593_62817601del GRCh38
NC_000020.10:g.61448945_61448953del , CM000682.1:g.61448945_61448953del GRCh37
NC_000020.9:g.60919390_60919398del NCBI36
NG_016353.1:g.5532_5540del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649368.1:c.105_113del MANE Select ENSP00000496793.1:p.Pro36_Gly38del
ENST00000343916.7:c.105_113del ENSP00000341640.3:p.Pro36_Gly38del
ENST00000477612.5:n.101_109del
ENST00000489045.5:n.151_159del
NM_001853.3:c.105_113del NP_001844.3:p.Pro36_Gly38del
XM_011528543.1:c.105_113del XP_011526845.1:p.Pro36_Gly38del
XM_011528545.1:c.105_113del XP_011526847.1:p.Pro36_Gly38del
XM_011528546.1:c.105_113del XP_011526848.1:p.Pro36_Gly38del
XM_011528547.1:c.105_113del XP_011526849.1:p.Pro36_Gly38del
XR_936499.1:n.106_114del
NM_001853.4:c.105_113del MANE Select NP_001844.3:p.Pro36_Gly38del
XM_017027666.1:c.105_113del XP_016883155.1:p.Pro36_Gly38del