Canonical Allele Identifier: CA2653721854

Gene: COL9A3

Linked Data

• gnomAD v4: 20-62832086-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62832089del , CM000682.2:g.62832089del	GRCh38
NC_000020.10:g.61463441del , CM000682.1:g.61463441del	GRCh37
NC_000020.9:g.60933886del	NCBI36
NG_016353.1:g.20028del

Transcript Alleles

HGVS	Amino-acid change
ENST00000649368.1:c.1288-65del MANE Select	ENSP00000496793.1:n.1288-65del
ENST00000343916.7:c.1288-65del	ENSP00000341640.3:n.1288-65del
ENST00000466192.5:n.950del
ENST00000469852.5:n.519del
ENST00000481800.1:n.261-65del
ENST00000490398.5:n.85-65del
NM_001853.3:c.1288-65del	NP_001844.3:n.1288-65del
XM_011528543.1:c.1288-65del	XP_011526845.1:n.1288-65del
XM_011528544.1:c.1081-65del	XP_011526846.1:n.1081-65del
XM_011528545.1:c.1288-65del	XP_011526847.1:n.1288-65del
XM_011528546.1:c.1288-65del	XP_011526848.1:n.1288-65del
XM_011528547.1:c.1288-65del	XP_011526849.1:n.1288-65del
XR_936499.1:n.1289-65del
NM_001853.4:c.1288-65del MANE Select	NP_001844.3:n.1288-65del
XM_017027666.1:c.1288-65del	XP_016883155.1:n.1288-65del