Canonical Allele Identifier: CA9949075

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62819278_62819286del , CM000682.2:g.62819278_62819286del	GRCh38
NC_000020.10:g.61450630_61450638del , CM000682.1:g.61450630_61450638del	GRCh37
NC_000020.9:g.60921075_60921083del	NCBI36
NG_016353.1:g.7217_7225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452372.2:c.129_137del	ENSP00000394280.1:p.Leu44_Gly46del
ENST00000649368.1:c.240_248del MANE Select	ENSP00000496793.1:p.Leu81_Gly83del
ENST00000343916.7:c.240_248del	ENSP00000341640.3:p.Leu81_Gly83del
ENST00000452372.1:c.129_137del	ENSP00000394280.1:p.Leu44_Gly46del
ENST00000477612.5:n.236_244del
ENST00000489045.5:n.286_294del
NM_001853.3:c.240_248del	NP_001844.3:p.Leu81_Gly83del
XM_011528543.1:c.240_248del	XP_011526845.1:p.Leu81_Gly83del
XM_011528544.1:c.-32_-24del	XP_011526846.1:n.-32_-24del
XM_011528545.1:c.240_248del	XP_011526847.1:p.Leu81_Gly83del
XM_011528546.1:c.240_248del	XP_011526848.1:p.Leu81_Gly83del
XM_011528547.1:c.240_248del	XP_011526849.1:p.Leu81_Gly83del
XR_936499.1:n.241_249del
NM_001853.4:c.240_248del MANE Select	NP_001844.3:p.Leu81_Gly83del
XM_017027666.1:c.240_248del	XP_016883155.1:p.Leu81_Gly83del