Canonical Allele Identifier: CA2507353070
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102946810_102946811del , CM000663.2:g.102946810_102946811del GRCh38
NC_000001.10:g.103412366_103412367del , CM000663.1:g.103412366_103412367del GRCh37
NC_000001.9:g.103184954_103184955del NCBI36
NG_008033.1:g.166687_166688del
NG_008033.2:g.166687_166688del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.3276+39_3276+40del MANE Select ENSP00000359114.3:n.3276+39_3276+40del
ENST00000353414.8:c.3159+39_3159+40del ENSP00000302551.6:n.3159+39_3159+40del
ENST00000358392.6:c.3312+39_3312+40del ENSP00000351163.2:n.3312+39_3312+40del
ENST00000370096.7:c.3276+39_3276+40del ENSP00000359114.3:n.3276+39_3276+40del
ENST00000512756.5:c.2928+39_2928+40del ENSP00000426533.1:n.2928+39_2928+40del
ENST00000635193.1:c.2610+39_2610+40del
NM_001190709.1:c.3159+39_3159+40del NP_001177638.1:n.3159+39_3159+40del
NM_001854.3:c.3276+39_3276+40del NP_001845.3:n.3276+39_3276+40del
NM_080629.2:c.3312+39_3312+40del NP_542196.2:n.3312+39_3312+40del
NM_080630.3:c.2928+39_2928+40del NP_542197.3:n.2928+39_2928+40del
XM_011540719.1:c.3276+39_3276+40del XP_011539021.1:n.3276+39_3276+40del
XM_011540720.1:c.1509+39_1509+40del XP_011539022.1:n.1509+39_1509+40del
XM_011540721.1:c.864+39_864+40del XP_011539023.1:n.864+39_864+40del
NR_134980.1:n.3610+39_3610+40del
XM_017000334.1:c.3429+39_3429+40del XP_016855823.1:n.3429+39_3429+40del
XM_017000335.1:c.3423+39_3423+40del XP_016855824.1:n.3423+39_3423+40del
XM_017000336.1:c.3429+39_3429+40del XP_016855825.1:n.3429+39_3429+40del
XM_017000337.1:c.1827+39_1827+40del XP_016855826.1:n.1827+39_1827+40del
NM_001854.4:c.3276+39_3276+40del MANE Select NP_001845.3:n.3276+39_3276+40del
NM_080630.4:c.2928+39_2928+40del NP_542197.3:n.2928+39_2928+40del
NR_134980.2:n.3636+39_3636+40del
NM_001190709.2:c.3159+39_3159+40del NP_001177638.1:n.3159+39_3159+40del
NM_080629.3:c.3312+39_3312+40del NP_542196.2:n.3312+39_3312+40del