Canonical Allele Identifier: CA973561
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102889585dup , CM000663.2:g.102889585dup GRCh38
NC_000001.10:g.103355141dup , CM000663.1:g.103355141dup GRCh37
NC_000001.9:g.103127729dup NCBI36
NG_008033.1:g.223919dup
NG_008033.2:g.223919dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.4357-16dup MANE Select ENSP00000359114.3:n.4357-16dup
ENST00000353414.8:c.4240-16dup ENSP00000302551.6:n.4240-16dup
ENST00000358392.6:c.4393-16dup ENSP00000351163.2:n.4393-16dup
ENST00000370096.7:c.4357-16dup ENSP00000359114.3:n.4357-16dup
ENST00000512756.5:c.4009-16dup ENSP00000426533.1:n.4009-16dup
ENST00000635193.1:c.3691-16dup
NM_001190709.1:c.4240-16dup NP_001177638.1:n.4240-16dup
NM_001854.3:c.4357-16dup NP_001845.3:n.4357-16dup
NM_080629.2:c.4393-16dup NP_542196.2:n.4393-16dup
NM_080630.3:c.4009-16dup NP_542197.3:n.4009-16dup
XM_011540720.1:c.2590-16dup XP_011539022.1:n.2590-16dup
XM_011540721.1:c.1945-16dup XP_011539023.1:n.1945-16dup
NR_134980.1:n.4691-16dup
XM_017000334.1:c.4510-16dup XP_016855823.1:n.4510-16dup
XM_017000335.1:c.4504-16dup XP_016855824.1:n.4504-16dup
XM_017000337.1:c.2908-16dup XP_016855826.1:n.2908-16dup
NM_001854.4:c.4357-16dup MANE Select NP_001845.3:n.4357-16dup
NM_080630.4:c.4009-16dup NP_542197.3:n.4009-16dup
NR_134980.2:n.4717-16dup
NM_001190709.2:c.4240-16dup NP_001177638.1:n.4240-16dup
NM_080629.3:c.4393-16dup NP_542196.2:n.4393-16dup