Canonical Allele Identifier: CA2744832073
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102978785_102978787del , CM000663.2:g.102978785_102978787del GRCh38
NC_000001.10:g.103444341_103444343del , CM000663.1:g.103444341_103444343del GRCh37
NC_000001.9:g.103216929_103216931del NCBI36
NG_008033.1:g.134710_134712del
NG_008033.2:g.134710_134712del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2710-35_2710-33del MANE Select ENSP00000359114.3:n.2710-35_2710-33del
ENST00000353414.8:c.2593-35_2593-33del ENSP00000302551.6:n.2593-35_2593-33del
ENST00000358392.6:c.2746-35_2746-33del ENSP00000351163.2:n.2746-35_2746-33del
ENST00000370096.7:c.2710-35_2710-33del ENSP00000359114.3:n.2710-35_2710-33del
ENST00000512756.5:c.2362-35_2362-33del ENSP00000426533.1:n.2362-35_2362-33del
ENST00000635193.1:c.2044-35_2044-33del
NM_001190709.1:c.2593-35_2593-33del NP_001177638.1:n.2593-35_2593-33del
NM_001854.3:c.2710-35_2710-33del NP_001845.3:n.2710-35_2710-33del
NM_080629.2:c.2746-35_2746-33del NP_542196.2:n.2746-35_2746-33del
NM_080630.3:c.2362-35_2362-33del NP_542197.3:n.2362-35_2362-33del
XM_011540719.1:c.2710-35_2710-33del XP_011539021.1:n.2710-35_2710-33del
XM_011540720.1:c.943-35_943-33del XP_011539022.1:n.943-35_943-33del
XM_011540721.1:c.298-35_298-33del XP_011539023.1:n.298-35_298-33del
XR_946545.1:n.3124-35_3124-33del
NR_134980.1:n.3044-35_3044-33del
XM_017000334.1:c.2863-35_2863-33del XP_016855823.1:n.2863-35_2863-33del
XM_017000335.1:c.2857-35_2857-33del XP_016855824.1:n.2857-35_2857-33del
XM_017000336.1:c.2863-35_2863-33del XP_016855825.1:n.2863-35_2863-33del
XM_017000337.1:c.1261-35_1261-33del XP_016855826.1:n.1261-35_1261-33del
NM_001854.4:c.2710-35_2710-33del MANE Select NP_001845.3:n.2710-35_2710-33del
NM_080630.4:c.2362-35_2362-33del NP_542197.3:n.2362-35_2362-33del
NR_134980.2:n.3070-35_3070-33del
NM_001190709.2:c.2593-35_2593-33del NP_001177638.1:n.2593-35_2593-33del
NM_080629.3:c.2746-35_2746-33del NP_542196.2:n.2746-35_2746-33del