Canonical Allele Identifier: CA317318987

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62817107_62817112dup , CM000682.2:g.62817107_62817112dup	GRCh38
NC_000020.10:g.61448459_61448464dup , CM000682.1:g.61448459_61448464dup	GRCh37
NC_000020.9:g.60918904_60918909dup	NCBI36
NG_016353.1:g.5046_5051dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001853.4:c.43_48dup MANE Select	NP_001844.3:p.Leu16_Gly17insLeuLeu
ENST00000649368.1:c.43_48dup MANE Select	ENSP00000496793.1:p.Leu16_Gly17insLeuLeu
NM_001853.3:c.43_48dup	NP_001844.3:p.Leu16_Gly17insLeuLeu
ENST00000343916.7:c.43_48dup	ENSP00000341640.3:p.Leu16_Gly17insLeuLeu
ENST00000477612.5:n.75-460_75-455dup
XM_011528543.1:c.43_48dup	XP_011526845.1:p.Leu16_Gly17insLeuLeu
XM_011528545.1:c.43_48dup	XP_011526847.1:p.Leu16_Gly17insLeuLeu
XM_011528546.1:c.43_48dup	XP_011526848.1:p.Leu16_Gly17insLeuLeu
XM_011528547.1:c.43_48dup	XP_011526849.1:p.Leu16_Gly17insLeuLeu
XM_017027666.1:c.43_48dup	XP_016883155.1:p.Leu16_Gly17insLeuLeu
XR_936499.1:n.44_49dup