Canonical Allele Identifier: CA884748997
Gene: COL11A1 HGNC NCBI

Linked Data

dbSNP Id: rs1260054806

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102946974_102946976del , CM000663.2:g.102946974_102946976del GRCh38
NC_000001.10:g.103412530_103412532del , CM000663.1:g.103412530_103412532del GRCh37
NC_000001.9:g.103185118_103185120del NCBI36
NG_008033.1:g.166524_166526del
NG_008033.2:g.166524_166526del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.3169-17_3169-15del MANE Select ENSP00000359114.3:n.3169-17_3169-15del
ENST00000353414.8:c.3052-17_3052-15del ENSP00000302551.6:n.3052-17_3052-15del
ENST00000358392.6:c.3205-17_3205-15del ENSP00000351163.2:n.3205-17_3205-15del
ENST00000370096.7:c.3169-17_3169-15del ENSP00000359114.3:n.3169-17_3169-15del
ENST00000512756.5:c.2821-17_2821-15del ENSP00000426533.1:n.2821-17_2821-15del
ENST00000635193.1:c.2503-17_2503-15del
NM_001190709.1:c.3052-17_3052-15del NP_001177638.1:n.3052-17_3052-15del
NM_001854.3:c.3169-17_3169-15del NP_001845.3:n.3169-17_3169-15del
NM_080629.2:c.3205-17_3205-15del NP_542196.2:n.3205-17_3205-15del
NM_080630.3:c.2821-17_2821-15del NP_542197.3:n.2821-17_2821-15del
XM_011540719.1:c.3169-17_3169-15del XP_011539021.1:n.3169-17_3169-15del
XM_011540720.1:c.1402-17_1402-15del XP_011539022.1:n.1402-17_1402-15del
XM_011540721.1:c.757-17_757-15del XP_011539023.1:n.757-17_757-15del
NR_134980.1:n.3503-17_3503-15del
XM_017000334.1:c.3322-17_3322-15del XP_016855823.1:n.3322-17_3322-15del
XM_017000335.1:c.3316-17_3316-15del XP_016855824.1:n.3316-17_3316-15del
XM_017000336.1:c.3322-17_3322-15del XP_016855825.1:n.3322-17_3322-15del
XM_017000337.1:c.1720-17_1720-15del XP_016855826.1:n.1720-17_1720-15del
NM_001854.4:c.3169-17_3169-15del MANE Select NP_001845.3:n.3169-17_3169-15del
NM_080630.4:c.2821-17_2821-15del NP_542197.3:n.2821-17_2821-15del
NR_134980.2:n.3529-17_3529-15del
NM_001190709.2:c.3052-17_3052-15del NP_001177638.1:n.3052-17_3052-15del
NM_080629.3:c.3205-17_3205-15del NP_542196.2:n.3205-17_3205-15del