Canonical Allele Identifier: CA2653704950

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62817112_62817113insCTCCTC , CM000682.2:g.62817112_62817113insCTCCTC	GRCh38
NC_000020.10:g.61448464_61448465insCTCCTC , CM000682.1:g.61448464_61448465insCTCCTC	GRCh37
NC_000020.9:g.60918909_60918910insCTCCTC	NCBI36
NG_016353.1:g.5051_5052insCTCCTC

Transcript Alleles

HGVS	Amino-acid Change
NM_001853.4:c.48_49insCTCCTC MANE Select	NP_001844.3:p.Leu16_Gly17insLeuLeu
ENST00000649368.1:c.48_49insCTCCTC MANE Select	ENSP00000496793.1:p.Leu16_Gly17insLeuLeu
NM_001853.3:c.48_49insCTCCTC	NP_001844.3:p.Leu16_Gly17insLeuLeu
ENST00000343916.7:c.48_49insCTCCTC	ENSP00000341640.3:p.Leu16_Gly17insLeuLeu
ENST00000477612.5:n.75-455_75-454insCTCCTC
XM_011528543.1:c.48_49insCTCCTC	XP_011526845.1:p.Leu16_Gly17insLeuLeu
XM_011528545.1:c.48_49insCTCCTC	XP_011526847.1:p.Leu16_Gly17insLeuLeu
XM_011528546.1:c.48_49insCTCCTC	XP_011526848.1:p.Leu16_Gly17insLeuLeu
XM_011528547.1:c.48_49insCTCCTC	XP_011526849.1:p.Leu16_Gly17insLeuLeu
XM_017027666.1:c.48_49insCTCCTC	XP_016883155.1:p.Leu16_Gly17insLeuLeu
XR_936499.1:n.49_50insCTCCTC