Canonical Allele Identifier: CA2034477385
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47993562_47993570delinsCCTAGGGAA , CM000674.2:g.47993562_47993570delinsCCTAGGGAA GRCh38
NC_000012.11:g.48387345_48387353delinsCCTAGGGAA , CM000674.1:g.48387345_48387353delinsCCTAGGGAA GRCh37
NC_000012.10:g.46673612_46673620delinsCCTAGGGAA NCBI36
NG_008072.1:g.15933_15941delinsTTCCCTAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.718-68_718-60delinsTTCCCTAGG ENSP00000338213.6:n.718-68_718-60delinsTTCCCTAGG
ENST00000380518.8:c.925-68_925-60delinsTTCCCTAGG MANE Select ENSP00000369889.3:n.925-68_925-60delinsTTCCCTAGG
ENST00000337299.6:c.718-68_718-60delinsTTCCCTAGG ENSP00000338213.6:n.718-68_718-60delinsTTCCCTAGG
ENST00000380518.7:c.925-68_925-60delinsTTCCCTAGG ENSP00000369889.3:n.925-68_925-60delinsTTCCCTAGG
NM_001844.4:c.925-68_925-60delinsTTCCCTAGG NP_001835.3:n.925-68_925-60delinsTTCCCTAGG
NM_033150.2:c.718-68_718-60delinsTTCCCTAGG NP_149162.2:n.718-68_718-60delinsTTCCCTAGG
XM_006719242.2:c.1069-68_1069-60delinsTTCCCTAGG XP_006719305.2:n.1069-68_1069-60delinsTTCCCTAGG
XM_011537928.1:c.1069-68_1069-60delinsTTCCCTAGG XP_011536230.1:n.1069-68_1069-60delinsTTCCCTAGG
XM_011537929.1:c.1069-68_1069-60delinsTTCCCTAGG XP_011536231.1:n.1069-68_1069-60delinsTTCCCTAGG
XM_011537930.1:c.1069-68_1069-60delinsTTCCCTAGG XP_011536232.1:n.1069-68_1069-60delinsTTCCCTAGG
XM_011537931.1:c.1069-68_1069-60delinsTTCCCTAGG XP_011536233.1:n.1069-68_1069-60delinsTTCCCTAGG
XM_011537932.1:c.1069-68_1069-60delinsTTCCCTAGG XP_011536234.1:n.1069-68_1069-60delinsTTCCCTAGG
XM_011537933.1:c.1069-68_1069-60delinsTTCCCTAGG XP_011536235.1:n.1069-68_1069-60delinsTTCCCTAGG
XM_011537934.1:c.1066-68_1066-60delinsTTCCCTAGG XP_011536236.1:n.1066-68_1066-60delinsTTCCCTAGG
XM_017018828.1:c.1069-68_1069-60delinsTTCCCTAGG XP_016874317.1:n.1069-68_1069-60delinsTTCCCTAGG
XM_017018829.1:c.1066-68_1066-60delinsTTCCCTAGG XP_016874318.1:n.1066-68_1066-60delinsTTCCCTAGG
XM_017018830.1:c.859-68_859-60delinsTTCCCTAGG XP_016874319.1:n.859-68_859-60delinsTTCCCTAGG
XM_017018831.2:c.379-68_379-60delinsTTCCCTAGG XP_016874320.1:n.379-68_379-60delinsTTCCCTAGG
NM_001844.5:c.925-68_925-60delinsTTCCCTAGG MANE Select NP_001835.3:n.925-68_925-60delinsTTCCCTAGG
NM_033150.3:c.718-68_718-60delinsTTCCCTAGG NP_149162.2:n.718-68_718-60delinsTTCCCTAGG