Canonical Allele Identifier: CA2646804947
Gene: COL11A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102978969_102978972del , CM000663.2:g.102978969_102978972del GRCh38
NC_000001.10:g.103444525_103444528del , CM000663.1:g.103444525_103444528del GRCh37
NC_000001.9:g.103217113_103217116del NCBI36
NG_008033.1:g.134526_134529del
NG_008033.2:g.134526_134529del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2656-58_2656-55del MANE Select ENSP00000359114.3:n.2656-58_2656-55del
ENST00000353414.8:c.2539-58_2539-55del ENSP00000302551.6:n.2539-58_2539-55del
ENST00000358392.6:c.2692-58_2692-55del ENSP00000351163.2:n.2692-58_2692-55del
ENST00000370096.7:c.2656-58_2656-55del ENSP00000359114.3:n.2656-58_2656-55del
ENST00000512756.5:c.2308-58_2308-55del ENSP00000426533.1:n.2308-58_2308-55del
ENST00000635193.1:c.1990-58_1990-55del
NM_001190709.1:c.2539-58_2539-55del NP_001177638.1:n.2539-58_2539-55del
NM_001854.3:c.2656-58_2656-55del NP_001845.3:n.2656-58_2656-55del
NM_080629.2:c.2692-58_2692-55del NP_542196.2:n.2692-58_2692-55del
NM_080630.3:c.2308-58_2308-55del NP_542197.3:n.2308-58_2308-55del
XM_011540719.1:c.2656-58_2656-55del XP_011539021.1:n.2656-58_2656-55del
XM_011540720.1:c.889-58_889-55del XP_011539022.1:n.889-58_889-55del
XM_011540721.1:c.244-58_244-55del XP_011539023.1:n.244-58_244-55del
XR_946545.1:n.3070-58_3070-55del
NR_134980.1:n.2990-58_2990-55del
XM_017000334.1:c.2809-58_2809-55del XP_016855823.1:n.2809-58_2809-55del
XM_017000335.1:c.2803-58_2803-55del XP_016855824.1:n.2803-58_2803-55del
XM_017000336.1:c.2809-58_2809-55del XP_016855825.1:n.2809-58_2809-55del
XM_017000337.1:c.1207-58_1207-55del XP_016855826.1:n.1207-58_1207-55del
NM_001854.4:c.2656-58_2656-55del MANE Select NP_001845.3:n.2656-58_2656-55del
NM_080630.4:c.2308-58_2308-55del NP_542197.3:n.2308-58_2308-55del
NR_134980.2:n.3016-58_3016-55del
NM_001190709.2:c.2539-58_2539-55del NP_001177638.1:n.2539-58_2539-55del
NM_080629.3:c.2692-58_2692-55del NP_542196.2:n.2692-58_2692-55del