Canonical Allele Identifier: CA2577448382
Gene: COL9A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62832184_62832185dup , CM000682.2:g.62832184_62832185dup GRCh38
NC_000020.10:g.61463536_61463537dup , CM000682.1:g.61463536_61463537dup GRCh37
NC_000020.9:g.60933981_60933982dup NCBI36
NG_016353.1:g.20123_20124dup

Transcript Alleles

HGVS Amino-acid change
ENST00000649368.1:c.1318_1319dup MANE Select ENSP00000496793.1:p.Asp440GlufsTer?
ENST00000343916.7:c.1318_1319dup ENSP00000341640.3:p.Asp440GlufsTer?
ENST00000466192.5:n.1045_1046dup
ENST00000469852.5:n.614_615dup
ENST00000481800.1:n.291_292dup
ENST00000490398.5:n.115_116dup
NM_001853.3:c.1318_1319dup NP_001844.3:p.Asp440GlufsTer?
XM_011528543.1:c.1318_1319dup XP_011526845.1:p.Asp440GlufsTer?
XM_011528544.1:c.1111_1112dup XP_011526846.1:p.Asp371GlufsTer?
XM_011528545.1:c.1318_1319dup XP_011526847.1:p.Asp440GlufsTer?
XM_011528546.1:c.1318_1319dup XP_011526848.1:p.Asp440GlufsTer?
XM_011528547.1:c.1318_1319dup XP_011526849.1:p.Asp440GlufsTer?
XR_936499.1:n.1319_1320dup
NM_001853.4:c.1318_1319dup MANE Select NP_001844.3:p.Asp440GlufsTer?
XM_017027666.1:c.1318_1319dup XP_016883155.1:p.Asp440GlufsTer?