Canonical Allele Identifier: CA1019231080

Gene: COL9A3

Linked Data

• dbSNP Id: rs2063601230
• gnomAD v3: 20-62832063-GGGGAGGTGTTTACCATTC-G
• gnomAD v4: 20-62832063-GGGGAGGTGTTTACCATTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62832064_62832081del , CM000682.2:g.62832064_62832081del	GRCh38
NC_000020.10:g.61463416_61463433del , CM000682.1:g.61463416_61463433del	GRCh37
NC_000020.9:g.60933861_60933878del	NCBI36
NG_016353.1:g.20003_20020del

Transcript Alleles

HGVS	Amino-acid change
ENST00000649368.1:c.1288-90_1288-73del MANE Select	ENSP00000496793.1:n.1288-90_1288-73del
ENST00000343916.7:c.1288-90_1288-73del	ENSP00000341640.3:n.1288-90_1288-73del
ENST00000466192.5:n.925_942del
ENST00000469852.5:n.494_511del
ENST00000481800.1:n.260+77_261-73del
ENST00000490398.5:n.85-90_85-73del
NM_001853.3:c.1288-90_1288-73del	NP_001844.3:n.1288-90_1288-73del
XM_011528543.1:c.1288-90_1288-73del	XP_011526845.1:n.1288-90_1288-73del
XM_011528544.1:c.1081-90_1081-73del	XP_011526846.1:n.1081-90_1081-73del
XM_011528545.1:c.1288-90_1288-73del	XP_011526847.1:n.1288-90_1288-73del
XM_011528546.1:c.1288-90_1288-73del	XP_011526848.1:n.1288-90_1288-73del
XM_011528547.1:c.1288-90_1288-73del	XP_011526849.1:n.1288-90_1288-73del
XR_936499.1:n.1289-90_1289-73del
NM_001853.4:c.1288-90_1288-73del MANE Select	NP_001844.3:n.1288-90_1288-73del
XM_017027666.1:c.1288-90_1288-73del	XP_016883155.1:n.1288-90_1288-73del