Canonical Allele Identifier: CA9949006

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62817603_62817611del , CM000682.2:g.62817603_62817611del	GRCh38
NC_000020.10:g.61448955_61448963del , CM000682.1:g.61448955_61448963del	GRCh37
NC_000020.9:g.60919400_60919408del	NCBI36
NG_016353.1:g.5542_5550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649368.1:c.115_123del MANE Select	ENSP00000496793.1:p.Pro39_Gly41del
ENST00000343916.7:c.115_123del	ENSP00000341640.3:p.Pro39_Gly41del
ENST00000477612.5:n.111_119del
ENST00000489045.5:n.161_169del
NM_001853.3:c.115_123del	NP_001844.3:p.Pro39_Gly41del
XM_011528543.1:c.115_123del	XP_011526845.1:p.Pro39_Gly41del
XM_011528545.1:c.115_123del	XP_011526847.1:p.Pro39_Gly41del
XM_011528546.1:c.115_123del	XP_011526848.1:p.Pro39_Gly41del
XM_011528547.1:c.115_123del	XP_011526849.1:p.Pro39_Gly41del
XR_936499.1:n.116_124del
NM_001853.4:c.115_123del MANE Select	NP_001844.3:p.Pro39_Gly41del
XM_017027666.1:c.115_123del	XP_016883155.1:p.Pro39_Gly41del