Canonical Allele Identifier: CA511167021
Gene: COL9A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62832157_62832158insA , CM000682.2:g.62832157_62832158insA GRCh38
NC_000020.10:g.61463509_61463510insA , CM000682.1:g.61463509_61463510insA GRCh37
NC_000020.9:g.60933954_60933955insA NCBI36
NG_016353.1:g.20096_20097insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000649368.1:c.1291_1292insA MANE Select ENSP00000496793.1:p.Pro431HisfsTer8
ENST00000343916.7:c.1291_1292insA ENSP00000341640.3:p.Pro431HisfsTer8
ENST00000466192.5:n.1018_1019insA
ENST00000469852.5:n.587_588insA
ENST00000481800.1:n.264_265insA
ENST00000490398.5:n.88_89insA
NM_001853.3:c.1291_1292insA NP_001844.3:p.Pro431HisfsTer8
XM_011528543.1:c.1291_1292insA XP_011526845.1:p.Pro431HisfsTer8
XM_011528544.1:c.1084_1085insA XP_011526846.1:p.Pro362HisfsTer8
XM_011528545.1:c.1291_1292insA XP_011526847.1:p.Pro431HisfsTer8
XM_011528546.1:c.1291_1292insA XP_011526848.1:p.Pro431HisfsTer8
XM_011528547.1:c.1291_1292insA XP_011526849.1:p.Pro431HisfsTer8
XR_936499.1:n.1292_1293insA
NM_001853.4:c.1291_1292insA MANE Select NP_001844.3:p.Pro431HisfsTer8
XM_017027666.1:c.1291_1292insA XP_016883155.1:p.Pro431HisfsTer8