Canonical Allele Identifier: CA636331545
Gene: COL9A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62817595_62817604del , CM000682.2:g.62817595_62817604del GRCh38
NC_000020.10:g.61448947_61448956del , CM000682.1:g.61448947_61448956del GRCh37
NC_000020.9:g.60919392_60919401del NCBI36
NG_016353.1:g.5534_5543del

Transcript Alleles

HGVS Amino-acid Change
NM_001853.4:c.107_116del MANE Select NP_001844.3:p.Pro36ArgfsTer?
ENST00000649368.1:c.107_116del MANE Select ENSP00000496793.1:p.Pro36ArgfsTer?
NM_001853.3:c.107_116del NP_001844.3:p.Pro36ArgfsTer?
ENST00000343916.7:c.107_116del ENSP00000341640.3:p.Pro36ArgfsTer?
ENST00000477612.5:n.103_112del
ENST00000489045.5:n.153_162del
XM_011528543.1:c.107_116del XP_011526845.1:p.Pro36ArgfsTer?
XM_011528545.1:c.107_116del XP_011526847.1:p.Pro36ArgfsTer?
XM_011528546.1:c.107_116del XP_011526848.1:p.Pro36ArgfsTer?
XM_011528547.1:c.107_116del XP_011526849.1:p.Pro36ArgfsTer?
XM_017027666.1:c.107_116del XP_016883155.1:p.Pro36ArgfsTer?
XR_936499.1:n.108_117del