Canonical Allele Identifier: CA1005161970
Gene: COL11A1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102998231del , CM000663.2:g.102998231del GRCh38
NC_000001.10:g.103463787del , CM000663.1:g.103463787del GRCh37
NC_000001.9:g.103236375del NCBI36
NG_008033.1:g.115267del
NG_008033.2:g.115267del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2196+80del MANE Select ENSP00000359114.3:n.2196+80del
ENST00000353414.8:c.2079+80del ENSP00000302551.6:n.2079+80del
ENST00000358392.6:c.2232+80del ENSP00000351163.2:n.2232+80del
ENST00000370096.7:c.2196+80del ENSP00000359114.3:n.2196+80del
ENST00000512756.5:c.1848+80del ENSP00000426533.1:n.1848+80del
ENST00000635193.1:c.1514+80del
NM_001190709.1:c.2079+80del NP_001177638.1:n.2079+80del
NM_001854.3:c.2196+80del NP_001845.3:n.2196+80del
NM_080629.2:c.2232+80del NP_542196.2:n.2232+80del
NM_080630.3:c.1848+80del NP_542197.3:n.1848+80del
XM_011540719.1:c.2196+80del XP_011539021.1:n.2196+80del
XM_011540720.1:c.429+80del XP_011539022.1:n.429+80del
XM_011540721.1:c.-233+80del XP_011539023.1:n.-233+80del
XR_946545.1:n.2594+80del
NR_134980.1:n.2514+80del
XM_017000334.1:c.2349+80del XP_016855823.1:n.2349+80del
XM_017000335.1:c.2343+80del XP_016855824.1:n.2343+80del
XM_017000336.1:c.2349+80del XP_016855825.1:n.2349+80del
XM_017000337.1:c.747+80del XP_016855826.1:n.747+80del
NM_001854.4:c.2196+80del MANE Select NP_001845.3:n.2196+80del
NM_080630.4:c.1848+80del NP_542197.3:n.1848+80del
NR_134980.2:n.2540+80del
NM_001190709.2:c.2079+80del NP_001177638.1:n.2079+80del
NM_080629.3:c.2232+80del NP_542196.2:n.2232+80del