Canonical Allele Identifier: CA1185271919
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102978768_102978769delinsGA , CM000663.2:g.102978768_102978769delinsGA GRCh38
NC_000001.10:g.103444324_103444325delinsGA , CM000663.1:g.103444324_103444325delinsGA GRCh37
NC_000001.9:g.103216912_103216913delinsGA NCBI36
NG_008033.1:g.134728_134729delinsTC
NG_008033.2:g.134728_134729delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2710-17_2710-16delinsTC MANE Select ENSP00000359114.3:n.2710-17_2710-16delinsTC
ENST00000353414.8:c.2593-17_2593-16delinsTC ENSP00000302551.6:n.2593-17_2593-16delinsTC
ENST00000358392.6:c.2746-17_2746-16delinsTC ENSP00000351163.2:n.2746-17_2746-16delinsTC
ENST00000370096.7:c.2710-17_2710-16delinsTC ENSP00000359114.3:n.2710-17_2710-16delinsTC
ENST00000512756.5:c.2362-17_2362-16delinsTC ENSP00000426533.1:n.2362-17_2362-16delinsTC
ENST00000635193.1:c.2044-17_2044-16delinsTC
NM_001190709.1:c.2593-17_2593-16delinsTC NP_001177638.1:n.2593-17_2593-16delinsTC
NM_001854.3:c.2710-17_2710-16delinsTC NP_001845.3:n.2710-17_2710-16delinsTC
NM_080629.2:c.2746-17_2746-16delinsTC NP_542196.2:n.2746-17_2746-16delinsTC
NM_080630.3:c.2362-17_2362-16delinsTC NP_542197.3:n.2362-17_2362-16delinsTC
XM_011540719.1:c.2710-17_2710-16delinsTC XP_011539021.1:n.2710-17_2710-16delinsTC
XM_011540720.1:c.943-17_943-16delinsTC XP_011539022.1:n.943-17_943-16delinsTC
XM_011540721.1:c.298-17_298-16delinsTC XP_011539023.1:n.298-17_298-16delinsTC
XR_946545.1:n.3124-17_3124-16delinsTC
NR_134980.1:n.3044-17_3044-16delinsTC
XM_017000334.1:c.2863-17_2863-16delinsTC XP_016855823.1:n.2863-17_2863-16delinsTC
XM_017000335.1:c.2857-17_2857-16delinsTC XP_016855824.1:n.2857-17_2857-16delinsTC
XM_017000336.1:c.2863-17_2863-16delinsTC XP_016855825.1:n.2863-17_2863-16delinsTC
XM_017000337.1:c.1261-17_1261-16delinsTC XP_016855826.1:n.1261-17_1261-16delinsTC
NM_001854.4:c.2710-17_2710-16delinsTC MANE Select NP_001845.3:n.2710-17_2710-16delinsTC
NM_080630.4:c.2362-17_2362-16delinsTC NP_542197.3:n.2362-17_2362-16delinsTC
NR_134980.2:n.3070-17_3070-16delinsTC
NM_001190709.2:c.2593-17_2593-16delinsTC NP_001177638.1:n.2593-17_2593-16delinsTC
NM_080629.3:c.2746-17_2746-16delinsTC NP_542196.2:n.2746-17_2746-16delinsTC