Canonical Allele Identifier: CA2374469780

Gene: COL9A3

Linked Data

• dbSNP Id: rs2063601412

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62832101_62832125del , CM000682.2:g.62832101_62832125del	GRCh38
NC_000020.10:g.61463453_61463477del , CM000682.1:g.61463453_61463477del	GRCh37
NC_000020.9:g.60933898_60933922del	NCBI36
NG_016353.1:g.20040_20064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649368.1:c.1288-53_1288-29del MANE Select	ENSP00000496793.1:n.1288-53_1288-29del
ENST00000343916.7:c.1288-53_1288-29del	ENSP00000341640.3:n.1288-53_1288-29del
ENST00000466192.5:n.962_986del
ENST00000469852.5:n.531_555del
ENST00000481800.1:n.261-53_261-29del
ENST00000490398.5:n.85-53_85-29del
NM_001853.3:c.1288-53_1288-29del	NP_001844.3:n.1288-53_1288-29del
XM_011528543.1:c.1288-53_1288-29del	XP_011526845.1:n.1288-53_1288-29del
XM_011528544.1:c.1081-53_1081-29del	XP_011526846.1:n.1081-53_1081-29del
XM_011528545.1:c.1288-53_1288-29del	XP_011526847.1:n.1288-53_1288-29del
XM_011528546.1:c.1288-53_1288-29del	XP_011526848.1:n.1288-53_1288-29del
XM_011528547.1:c.1288-53_1288-29del	XP_011526849.1:n.1288-53_1288-29del
XR_936499.1:n.1289-53_1289-29del
NM_001853.4:c.1288-53_1288-29del MANE Select	NP_001844.3:n.1288-53_1288-29del
XM_017027666.1:c.1288-53_1288-29del	XP_016883155.1:n.1288-53_1288-29del