Canonical Allele Identifier: CA317319224
Community Standard Title: NM_001853.4(COL9A3):c.79-140del
Gene: COL9A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62817427del , CM000682.2:g.62817427del GRCh38
NC_000020.10:g.61448779del , CM000682.1:g.61448779del GRCh37
NC_000020.9:g.60919224del NCBI36
NG_016353.1:g.5366del

Transcript Alleles

HGVS Amino-acid Change
NM_001853.4:c.79-140del MANE Select NP_001844.3:n.79-140del
ENST00000649368.1:c.79-140del MANE Select ENSP00000496793.1:n.79-140del
NM_001853.3:c.79-140del NP_001844.3:n.79-140del
ENST00000343916.7:c.79-140del ENSP00000341640.3:n.79-140del
ENST00000477612.5:n.75-140del
XM_011528543.1:c.79-140del XP_011526845.1:n.79-140del
XM_011528545.1:c.79-140del XP_011526847.1:n.79-140del
XM_011528546.1:c.79-140del XP_011526848.1:n.79-140del
XM_011528547.1:c.79-140del XP_011526849.1:n.79-140del
XM_017027666.1:c.79-140del XP_016883155.1:n.79-140del
XR_936499.1:n.80-140del