Canonical Allele Identifier: CA1185280333
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102998229_102998230delinsTA , CM000663.2:g.102998229_102998230delinsTA GRCh38
NC_000001.10:g.103463785_103463786delinsTA , CM000663.1:g.103463785_103463786delinsTA GRCh37
NC_000001.9:g.103236373_103236374delinsTA NCBI36
NG_008033.1:g.115267_115268delinsTA
NG_008033.2:g.115267_115268delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2196+80_2196+81delinsTA MANE Select ENSP00000359114.3:n.2196+80_2196+81delinsTA
ENST00000353414.8:c.2079+80_2079+81delinsTA ENSP00000302551.6:n.2079+80_2079+81delinsTA
ENST00000358392.6:c.2232+80_2232+81delinsTA ENSP00000351163.2:n.2232+80_2232+81delinsTA
ENST00000370096.7:c.2196+80_2196+81delinsTA ENSP00000359114.3:n.2196+80_2196+81delinsTA
ENST00000512756.5:c.1848+80_1848+81delinsTA ENSP00000426533.1:n.1848+80_1848+81delinsTA
ENST00000635193.1:c.1514+80_1514+81delinsTA
NM_001190709.1:c.2079+80_2079+81delinsTA NP_001177638.1:n.2079+80_2079+81delinsTA
NM_001854.3:c.2196+80_2196+81delinsTA NP_001845.3:n.2196+80_2196+81delinsTA
NM_080629.2:c.2232+80_2232+81delinsTA NP_542196.2:n.2232+80_2232+81delinsTA
NM_080630.3:c.1848+80_1848+81delinsTA NP_542197.3:n.1848+80_1848+81delinsTA
XM_011540719.1:c.2196+80_2196+81delinsTA XP_011539021.1:n.2196+80_2196+81delinsTA
XM_011540720.1:c.429+80_429+81delinsTA XP_011539022.1:n.429+80_429+81delinsTA
XM_011540721.1:c.-233+80_-233+81delinsTA XP_011539023.1:n.-233+80_-233+81delinsTA
XR_946545.1:n.2594+80_2594+81delinsTA
NR_134980.1:n.2514+80_2514+81delinsTA
XM_017000334.1:c.2349+80_2349+81delinsTA XP_016855823.1:n.2349+80_2349+81delinsTA
XM_017000335.1:c.2343+80_2343+81delinsTA XP_016855824.1:n.2343+80_2343+81delinsTA
XM_017000336.1:c.2349+80_2349+81delinsTA XP_016855825.1:n.2349+80_2349+81delinsTA
XM_017000337.1:c.747+80_747+81delinsTA XP_016855826.1:n.747+80_747+81delinsTA
NM_001854.4:c.2196+80_2196+81delinsTA MANE Select NP_001845.3:n.2196+80_2196+81delinsTA
NM_080630.4:c.1848+80_1848+81delinsTA NP_542197.3:n.1848+80_1848+81delinsTA
NR_134980.2:n.2540+80_2540+81delinsTA
NM_001190709.2:c.2079+80_2079+81delinsTA NP_001177638.1:n.2079+80_2079+81delinsTA
NM_080629.3:c.2232+80_2232+81delinsTA NP_542196.2:n.2232+80_2232+81delinsTA