Canonical Allele Identifier: CA2586967148
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102978717_102978725del , CM000663.2:g.102978717_102978725del GRCh38
NC_000001.10:g.103444273_103444281del , CM000663.1:g.103444273_103444281del GRCh37
NC_000001.9:g.103216861_103216869del NCBI36
NG_008033.1:g.134774_134782del
NG_008033.2:g.134774_134782del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2739_2747del MANE Select ENSP00000359114.3:p.Pro914_Gly916del
ENST00000353414.8:c.2622_2630del ENSP00000302551.6:p.Pro875_Gly877del
ENST00000358392.6:c.2775_2783del ENSP00000351163.2:p.Pro926_Gly928del
ENST00000370096.7:c.2739_2747del ENSP00000359114.3:p.Pro914_Gly916del
ENST00000512756.5:c.2391_2399del ENSP00000426533.1:p.Pro798_Gly800del
ENST00000635193.1:c.2073_2081del
NM_001190709.1:c.2622_2630del NP_001177638.1:p.Pro875_Gly877del
NM_001854.3:c.2739_2747del NP_001845.3:p.Pro914_Gly916del
NM_080629.2:c.2775_2783del NP_542196.2:p.Pro926_Gly928del
NM_080630.3:c.2391_2399del NP_542197.3:p.Pro798_Gly800del
XM_011540719.1:c.2739_2747del XP_011539021.1:p.Pro914_Gly916del
XM_011540720.1:c.972_980del XP_011539022.1:p.Pro325_Gly327del
XM_011540721.1:c.327_335del XP_011539023.1:p.Pro110_Gly112del
XR_946545.1:n.3153_3161del
NR_134980.1:n.3073_3081del
XM_017000334.1:c.2892_2900del XP_016855823.1:p.Pro965_Gly967del
XM_017000335.1:c.2886_2894del XP_016855824.1:p.Pro963_Gly965del
XM_017000336.1:c.2892_2900del XP_016855825.1:p.Pro965_Gly967del
XM_017000337.1:c.1290_1298del XP_016855826.1:p.Pro431_Gly433del
NM_001854.4:c.2739_2747del MANE Select NP_001845.3:p.Pro914_Gly916del
NM_080630.4:c.2391_2399del NP_542197.3:p.Pro798_Gly800del
NR_134980.2:n.3099_3107del
NM_001190709.2:c.2622_2630del NP_001177638.1:p.Pro875_Gly877del
NM_080629.3:c.2775_2783del NP_542196.2:p.Pro926_Gly928del