Canonical Allele Identifier: CA1185278478
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102994054_102994085delinsTTTAGTATATAACAGTAGCTTTTTCCAGATAA , CM000663.2:g.102994054_102994085delinsTTTAGTATATAACAGTAGCTTTTTCCAGATAA GRCh38
NC_000001.10:g.103459610_103459641delinsTTTAGTATATAACAGTAGCTTTTTCCAGATAA , CM000663.1:g.103459610_103459641delinsTTTAGTATATAACAGTAGCTTTTTCCAGATAA GRCh37
NC_000001.9:g.103232198_103232229delinsTTTAGTATATAACAGTAGCTTTTTCCAGATAA NCBI36
NG_008033.1:g.119412_119443delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA
NG_008033.2:g.119412_119443delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2340+1779_2340+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA MANE Select ENSP00000359114.3:n.2340+1779_2340+1810delinsTTATCTGGAAAAAGCT...
ENST00000353414.8:c.2223+1779_2223+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA ENSP00000302551.6:n.2223+1779_2223+1810delinsTTATCTGGAAAAAGCT...
ENST00000358392.6:c.2376+1779_2376+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA ENSP00000351163.2:n.2376+1779_2376+1810delinsTTATCTGGAAAAAGCT...
ENST00000370096.7:c.2340+1779_2340+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA ENSP00000359114.3:n.2340+1779_2340+1810delinsTTATCTGGAAAAAGCT...
ENST00000512756.5:c.1992+1779_1992+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA ENSP00000426533.1:n.1992+1779_1992+1810delinsTTATCTGGAAAAAGCT...
ENST00000635193.1:c.1658+1779_1658+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA
NM_001190709.1:c.2223+1779_2223+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA NP_001177638.1:n.2223+1779_2223+1810delinsTTATCTGGAAAAAGCTACT...
NM_001854.3:c.2340+1779_2340+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA NP_001845.3:n.2340+1779_2340+1810delinsTTATCTGGAAAAAGCTACTGTT...
NM_080629.2:c.2376+1779_2376+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA NP_542196.2:n.2376+1779_2376+1810delinsTTATCTGGAAAAAGCTACTGTT...
NM_080630.3:c.1992+1779_1992+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA NP_542197.3:n.1992+1779_1992+1810delinsTTATCTGGAAAAAGCTACTGTT...
XM_011540719.1:c.2340+1779_2340+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA XP_011539021.1:n.2340+1779_2340+1810delinsTTATCTGGAAAAAGCTACT...
XM_011540720.1:c.573+1779_573+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA XP_011539022.1:n.573+1779_573+1810delinsTTATCTGGAAAAAGCTACTGT...
XM_011540721.1:c.-89+1779_-89+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA XP_011539023.1:n.-89+1779_-89+1810delinsTTATCTGGAAAAAGCTACTGT...
XR_946545.1:n.2738+1779_2738+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA
NR_134980.1:n.2658+1779_2658+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA
XM_017000334.1:c.2493+1779_2493+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA XP_016855823.1:n.2493+1779_2493+1810delinsTTATCTGGAAAAAGCTACT...
XM_017000335.1:c.2487+1779_2487+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA XP_016855824.1:n.2487+1779_2487+1810delinsTTATCTGGAAAAAGCTACT...
XM_017000336.1:c.2493+1779_2493+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA XP_016855825.1:n.2493+1779_2493+1810delinsTTATCTGGAAAAAGCTACT...
XM_017000337.1:c.891+1779_891+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA XP_016855826.1:n.891+1779_891+1810delinsTTATCTGGAAAAAGCTACTGT...
NM_001854.4:c.2340+1779_2340+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA MANE Select NP_001845.3:n.2340+1779_2340+1810delinsTTATCTGGAAAAAGCTACTGTT...
NM_080630.4:c.1992+1779_1992+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA NP_542197.3:n.1992+1779_1992+1810delinsTTATCTGGAAAAAGCTACTGTT...
NR_134980.2:n.2684+1779_2684+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA
NM_001190709.2:c.2223+1779_2223+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA NP_001177638.1:n.2223+1779_2223+1810delinsTTATCTGGAAAAAGCTACT...
NM_080629.3:c.2376+1779_2376+1810delinsTTATCTGGAAAAAGCTACTGTTATATACTAAA NP_542196.2:n.2376+1779_2376+1810delinsTTATCTGGAAAAAGCTACTGTT...