Canonical Allele Identifier: CA317326136
Community Standard Title: NM_001853.4(COL9A3):c.519+203_519+205del
Gene: COL9A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62822835_62822837del , CM000682.2:g.62822835_62822837del GRCh38
NC_000020.10:g.61454187_61454189del , CM000682.1:g.61454187_61454189del GRCh37
NC_000020.9:g.60924632_60924634del NCBI36
NG_016353.1:g.10774_10776del

Transcript Alleles

HGVS Amino-acid Change
NM_001853.4:c.519+203_519+205del MANE Select NP_001844.3:n.519+203_519+205del
ENST00000649368.1:c.519+203_519+205del MANE Select ENSP00000496793.1:n.519+203_519+205del
NM_001853.3:c.519+203_519+205del NP_001844.3:n.519+203_519+205del
ENST00000343916.7:c.519+203_519+205del ENSP00000341640.3:n.519+203_519+205del
ENST00000452372.1:c.408+203_408+205del ENSP00000394280.1:n.408+203_408+205del
ENST00000452372.2:c.408+203_408+205del ENSP00000394280.1:n.408+203_408+205del
ENST00000463487.2:n.24+203_24+205del
ENST00000477612.5:n.515+203_515+205del
ENST00000489045.5:n.565+203_565+205del
XM_011528543.1:c.519+203_519+205del XP_011526845.1:n.519+203_519+205del
XM_011528544.1:c.312+203_312+205del XP_011526846.1:n.312+203_312+205del
XM_011528545.1:c.519+203_519+205del XP_011526847.1:n.519+203_519+205del
XM_011528546.1:c.519+203_519+205del XP_011526848.1:n.519+203_519+205del
XM_011528547.1:c.519+203_519+205del XP_011526849.1:n.519+203_519+205del
XM_017027666.1:c.519+203_519+205del XP_016883155.1:n.519+203_519+205del
XR_936499.1:n.520+203_520+205del