Canonical Allele Identifier: CA2744832079
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102978976_102978977del , CM000663.2:g.102978976_102978977del GRCh38
NC_000001.10:g.103444532_103444533del , CM000663.1:g.103444532_103444533del GRCh37
NC_000001.9:g.103217120_103217121del NCBI36
NG_008033.1:g.134520_134521del
NG_008033.2:g.134520_134521del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2656-64_2656-63del MANE Select ENSP00000359114.3:n.2656-64_2656-63del
ENST00000353414.8:c.2539-64_2539-63del ENSP00000302551.6:n.2539-64_2539-63del
ENST00000358392.6:c.2692-64_2692-63del ENSP00000351163.2:n.2692-64_2692-63del
ENST00000370096.7:c.2656-64_2656-63del ENSP00000359114.3:n.2656-64_2656-63del
ENST00000512756.5:c.2308-64_2308-63del ENSP00000426533.1:n.2308-64_2308-63del
ENST00000635193.1:c.1990-64_1990-63del
NM_001190709.1:c.2539-64_2539-63del NP_001177638.1:n.2539-64_2539-63del
NM_001854.3:c.2656-64_2656-63del NP_001845.3:n.2656-64_2656-63del
NM_080629.2:c.2692-64_2692-63del NP_542196.2:n.2692-64_2692-63del
NM_080630.3:c.2308-64_2308-63del NP_542197.3:n.2308-64_2308-63del
XM_011540719.1:c.2656-64_2656-63del XP_011539021.1:n.2656-64_2656-63del
XM_011540720.1:c.889-64_889-63del XP_011539022.1:n.889-64_889-63del
XM_011540721.1:c.244-64_244-63del XP_011539023.1:n.244-64_244-63del
XR_946545.1:n.3070-64_3070-63del
NR_134980.1:n.2990-64_2990-63del
XM_017000334.1:c.2809-64_2809-63del XP_016855823.1:n.2809-64_2809-63del
XM_017000335.1:c.2803-64_2803-63del XP_016855824.1:n.2803-64_2803-63del
XM_017000336.1:c.2809-64_2809-63del XP_016855825.1:n.2809-64_2809-63del
XM_017000337.1:c.1207-64_1207-63del XP_016855826.1:n.1207-64_1207-63del
NM_001854.4:c.2656-64_2656-63del MANE Select NP_001845.3:n.2656-64_2656-63del
NM_080630.4:c.2308-64_2308-63del NP_542197.3:n.2308-64_2308-63del
NR_134980.2:n.3016-64_3016-63del
NM_001190709.2:c.2539-64_2539-63del NP_001177638.1:n.2539-64_2539-63del
NM_080629.3:c.2692-64_2692-63del NP_542196.2:n.2692-64_2692-63del