Canonical Allele Identifier: CA9948999
Gene: COL9A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62817590_62817598del , CM000682.2:g.62817590_62817598del GRCh38
NC_000020.10:g.61448942_61448950del , CM000682.1:g.61448942_61448950del GRCh37
NC_000020.9:g.60919387_60919395del NCBI36
NG_016353.1:g.5529_5537del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649368.1:c.102_110del MANE Select ENSP00000496793.1:p.Gly35_Pro37del
ENST00000343916.7:c.102_110del ENSP00000341640.3:p.Gly35_Pro37del
ENST00000477612.5:n.98_106del
ENST00000489045.5:n.148_156del
NM_001853.3:c.102_110del NP_001844.3:p.Gly35_Pro37del
XM_011528543.1:c.102_110del XP_011526845.1:p.Gly35_Pro37del
XM_011528545.1:c.102_110del XP_011526847.1:p.Gly35_Pro37del
XM_011528546.1:c.102_110del XP_011526848.1:p.Gly35_Pro37del
XM_011528547.1:c.102_110del XP_011526849.1:p.Gly35_Pro37del
XR_936499.1:n.103_111del
NM_001853.4:c.102_110del MANE Select NP_001844.3:p.Gly35_Pro37del
XM_017027666.1:c.102_110del XP_016883155.1:p.Gly35_Pro37del