Canonical Allele Identifier: CA746384182

Gene: COL9A3

Linked Data

• dbSNP Id: rs1260182031
• gnomAD v4: 20-62832071-GT-G
• MyVariant Identifiers: chr20:g.61463424del (hg19) ; chr20:g.62832072del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62832074del , CM000682.2:g.62832074del	GRCh38
NC_000020.10:g.61463426del , CM000682.1:g.61463426del	GRCh37
NC_000020.9:g.60933871del	NCBI36
NG_016353.1:g.20013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649368.1:c.1288-80del MANE Select	ENSP00000496793.1:n.1288-80del
ENST00000343916.7:c.1288-80del	ENSP00000341640.3:n.1288-80del
ENST00000466192.5:n.935del
ENST00000469852.5:n.504del
ENST00000481800.1:n.261-80del
ENST00000490398.5:n.85-80del
NM_001853.3:c.1288-80del	NP_001844.3:n.1288-80del
XM_011528543.1:c.1288-80del	XP_011526845.1:n.1288-80del
XM_011528544.1:c.1081-80del	XP_011526846.1:n.1081-80del
XM_011528545.1:c.1288-80del	XP_011526847.1:n.1288-80del
XM_011528546.1:c.1288-80del	XP_011526848.1:n.1288-80del
XM_011528547.1:c.1288-80del	XP_011526849.1:n.1288-80del
XR_936499.1:n.1289-80del
NM_001853.4:c.1288-80del MANE Select	NP_001844.3:n.1288-80del
XM_017027666.1:c.1288-80del	XP_016883155.1:n.1288-80del