Canonical Allele Identifier: CA10604533
Gene: COL11A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102913664_102913675del , CM000663.2:g.102913664_102913675del GRCh38
NC_000001.10:g.103379220_103379231del , CM000663.1:g.103379220_103379231del GRCh37
NC_000001.9:g.103151808_103151819del NCBI36
NG_008033.1:g.199826_199837del
NG_008033.2:g.199826_199837del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.3998_4009del MANE Select ENSP00000359114.3:p.Gly1333_Gly1336del
ENST00000353414.8:c.3881_3892del ENSP00000302551.6:p.Gly1294_Gly1297del
ENST00000358392.6:c.4034_4045del ENSP00000351163.2:p.Gly1345_Gly1348del
ENST00000370096.7:c.3998_4009del ENSP00000359114.3:p.Gly1333_Gly1336del
ENST00000512756.5:c.3650_3661del ENSP00000426533.1:p.Gly1217_Gly1220del
ENST00000635193.1:c.3332_3343del
NM_001190709.1:c.3881_3892del NP_001177638.1:p.Gly1294_Gly1297del
NM_001854.3:c.3998_4009del NP_001845.3:p.Gly1333_Gly1336del
NM_080629.2:c.4034_4045del NP_542196.2:p.Gly1345_Gly1348del
NM_080630.3:c.3650_3661del NP_542197.3:p.Gly1217_Gly1220del
XM_011540719.1:c.3998_4009del XP_011539021.1:p.Gly1333_Gly1336del
XM_011540720.1:c.2231_2242del XP_011539022.1:p.Gly744_Gly747del
XM_011540721.1:c.1586_1597del XP_011539023.1:p.Gly529_Gly532del
NR_134980.1:n.4332_4343del
XM_017000334.1:c.4151_4162del XP_016855823.1:p.Gly1384_Gly1387del
XM_017000335.1:c.4145_4156del XP_016855824.1:p.Gly1382_Gly1385del
XM_017000336.1:c.4151_4162del XP_016855825.1:p.Gly1384_Gly1387del
XM_017000337.1:c.2549_2560del XP_016855826.1:p.Gly850_Gly853del
NM_001854.4:c.3998_4009del MANE Select NP_001845.3:p.Gly1333_Gly1336del
NM_080630.4:c.3650_3661del NP_542197.3:p.Gly1217_Gly1220del
NR_134980.2:n.4358_4369del
NM_001190709.2:c.3881_3892del NP_001177638.1:p.Gly1294_Gly1297del
NM_080629.3:c.4034_4045del NP_542196.2:p.Gly1345_Gly1348del
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