Canonical Allele Identifier: CA2034459130
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47987562_47987586delinsAAAGCCACAGACCCCAGACCCCCCC , CM000674.2:g.47987562_47987586delinsAAAGCCACAGACCCCAGACCCCCCC GRCh38
NC_000012.11:g.48381345_48381369delinsAAAGCCACAGACCCCAGACCCCCCC , CM000674.1:g.48381345_48381369delinsAAAGCCACAGACCCCAGACCCCCCC GRCh37
NC_000012.10:g.46667612_46667636delinsAAAGCCACAGACCCCAGACCCCCCC NCBI36
NG_008072.1:g.21917_21941delinsGGGGGGGTCTGGGGTCTGTGGCTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.1014+25_1014+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT ENSP00000338213.6:n.1014+25_1014+49delinsGGGGGGGTCTGGGGTCTGTG...
ENST00000380518.8:c.1221+25_1221+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT MANE Select ENSP00000369889.3:n.1221+25_1221+49delinsGGGGGGGTCTGGGGTCTGTG...
ENST00000337299.6:c.1014+25_1014+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT ENSP00000338213.6:n.1014+25_1014+49delinsGGGGGGGTCTGGGGTCTGTG...
ENST00000380518.7:c.1221+25_1221+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT ENSP00000369889.3:n.1221+25_1221+49delinsGGGGGGGTCTGGGGTCTGTG...
ENST00000493991.5:n.145+25_145+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT
NM_001844.4:c.1221+25_1221+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT NP_001835.3:n.1221+25_1221+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT
NM_033150.2:c.1014+25_1014+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT NP_149162.2:n.1014+25_1014+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT
XM_006719242.2:c.1365+25_1365+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT XP_006719305.2:n.1365+25_1365+49delinsGGGGGGGTCTGGGGTCTGTGGCT...
XM_011537928.1:c.1365+25_1365+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT XP_011536230.1:n.1365+25_1365+49delinsGGGGGGGTCTGGGGTCTGTGGCT...
XM_011537929.1:c.1365+25_1365+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT XP_011536231.1:n.1365+25_1365+49delinsGGGGGGGTCTGGGGTCTGTGGCT...
XM_011537930.1:c.1365+25_1365+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT XP_011536232.1:n.1365+25_1365+49delinsGGGGGGGTCTGGGGTCTGTGGCT...
XM_011537931.1:c.1365+25_1365+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT XP_011536233.1:n.1365+25_1365+49delinsGGGGGGGTCTGGGGTCTGTGGCT...
XM_011537932.1:c.1365+25_1365+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT XP_011536234.1:n.1365+25_1365+49delinsGGGGGGGTCTGGGGTCTGTGGCT...
XM_011537933.1:c.1365+25_1365+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT XP_011536235.1:n.1365+25_1365+49delinsGGGGGGGTCTGGGGTCTGTGGCT...
XM_011537934.1:c.1362+25_1362+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT XP_011536236.1:n.1362+25_1362+49delinsGGGGGGGTCTGGGGTCTGTGGCT...
XM_011537935.1:c.309+25_309+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT XP_011536237.1:n.309+25_309+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT...
XM_017018828.1:c.1365+25_1365+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT XP_016874317.1:n.1365+25_1365+49delinsGGGGGGGTCTGGGGTCTGTGGCT...
XM_017018829.1:c.1362+25_1362+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT XP_016874318.1:n.1362+25_1362+49delinsGGGGGGGTCTGGGGTCTGTGGCT...
XM_017018830.1:c.1155+25_1155+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT XP_016874319.1:n.1155+25_1155+49delinsGGGGGGGTCTGGGGTCTGTGGCT...
XM_017018831.2:c.675+25_675+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT XP_016874320.1:n.675+25_675+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT...
NM_001844.5:c.1221+25_1221+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT MANE Select NP_001835.3:n.1221+25_1221+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT
NM_033150.3:c.1014+25_1014+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT NP_149162.2:n.1014+25_1014+49delinsGGGGGGGTCTGGGGTCTGTGGCTTT