Canonical Allele Identifier: CA2993564781

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103025560_103025561del , CM000663.2:g.103025560_103025561del	GRCh38
NC_000001.10:g.103491116_103491117del , CM000663.1:g.103491116_103491117del	GRCh37
NC_000001.9:g.103263704_103263705del	NCBI36
NG_008033.1:g.87936_87937del
NG_008033.2:g.87936_87937del

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.950_951del MANE Select	NP_001845.3:p.Tyr317SerfsTer6
ENST00000370096.9:c.950_951del MANE Select	ENSP00000359114.3:p.Tyr317SerfsTer6
NM_001190709.1:c.833_834del	NP_001177638.1:p.Tyr278SerfsTer6
NM_001190709.2:c.833_834del	NP_001177638.1:p.Tyr278SerfsTer6
NM_001854.3:c.950_951del	NP_001845.3:p.Tyr317SerfsTer6
NM_080629.2:c.986_987del	NP_542196.2:p.Tyr329SerfsTer6
NM_080629.3:c.986_987del	NP_542196.2:p.Tyr329SerfsTer6
NM_080630.3:c.897+655_897+656del	NP_542197.3:n.897+655_897+656del
NM_080630.4:c.897+655_897+656del	NP_542197.3:n.897+655_897+656del
NR_134980.1:n.1268_1269del
NR_134980.2:n.1294_1295del
ENST00000353414.8:c.833_834del	ENSP00000302551.6:p.Tyr278SerfsTer6
ENST00000358392.6:c.986_987del	ENSP00000351163.2:p.Tyr329SerfsTer6
ENST00000370096.7:c.950_951del	ENSP00000359114.3:p.Tyr317SerfsTer6
ENST00000427239.5:c.986_987del	ENSP00000408640.1:p.Tyr329SerfsTer6
ENST00000461720.6:c.1103_1104del	ENSP00000494909.1:p.Tyr368SerfsTer6
ENST00000512756.5:c.897+655_897+656del	ENSP00000426533.1:n.897+655_897+656del
ENST00000635193.1:c.268_269del
ENST00000644186.1:c.950_951del	ENSP00000493821.1:p.Tyr317SerfsTer6
ENST00000645458.1:c.950_951del	ENSP00000494179.1:p.Tyr317SerfsTer6
ENST00000647280.1:c.950_951del	ENSP00000494583.1:p.Tyr317SerfsTer6
XM_011540719.1:c.950_951del	XP_011539021.1:p.Tyr317SerfsTer6
XM_011540721.1:c.-1479_-1478del	XP_011539023.1:n.-1479_-1478del
XM_017000334.1:c.1103_1104del	XP_016855823.1:p.Tyr368SerfsTer6
XM_017000335.1:c.1097_1098del	XP_016855824.1:p.Tyr366SerfsTer6
XM_017000336.1:c.1103_1104del	XP_016855825.1:p.Tyr368SerfsTer6
XR_946545.1:n.1348_1349del