Canonical Allele Identifier: CA1185276582
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102989465_102989466delinsAT , CM000663.2:g.102989465_102989466delinsAT GRCh38
NC_000001.10:g.103455021_103455022delinsAT , CM000663.1:g.103455021_103455022delinsAT GRCh37
NC_000001.9:g.103227609_103227610delinsAT NCBI36
NG_008033.1:g.124031_124032delinsAT
NG_008033.2:g.124031_124032delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2394+52_2394+53delinsAT MANE Select ENSP00000359114.3:n.2394+52_2394+53delinsAT
ENST00000353414.8:c.2277+52_2277+53delinsAT ENSP00000302551.6:n.2277+52_2277+53delinsAT
ENST00000358392.6:c.2430+52_2430+53delinsAT ENSP00000351163.2:n.2430+52_2430+53delinsAT
ENST00000370096.7:c.2394+52_2394+53delinsAT ENSP00000359114.3:n.2394+52_2394+53delinsAT
ENST00000512756.5:c.2046+52_2046+53delinsAT ENSP00000426533.1:n.2046+52_2046+53delinsAT
ENST00000635193.1:c.1712+52_1712+53delinsAT
NM_001190709.1:c.2277+52_2277+53delinsAT NP_001177638.1:n.2277+52_2277+53delinsAT
NM_001854.3:c.2394+52_2394+53delinsAT NP_001845.3:n.2394+52_2394+53delinsAT
NM_080629.2:c.2430+52_2430+53delinsAT NP_542196.2:n.2430+52_2430+53delinsAT
NM_080630.3:c.2046+52_2046+53delinsAT NP_542197.3:n.2046+52_2046+53delinsAT
XM_011540719.1:c.2394+52_2394+53delinsAT XP_011539021.1:n.2394+52_2394+53delinsAT
XM_011540720.1:c.627+52_627+53delinsAT XP_011539022.1:n.627+52_627+53delinsAT
XM_011540721.1:c.-35+52_-35+53delinsAT XP_011539023.1:n.-35+52_-35+53delinsAT
XR_946545.1:n.2792+52_2792+53delinsAT
NR_134980.1:n.2712+52_2712+53delinsAT
XM_017000334.1:c.2547+52_2547+53delinsAT XP_016855823.1:n.2547+52_2547+53delinsAT
XM_017000335.1:c.2541+52_2541+53delinsAT XP_016855824.1:n.2541+52_2541+53delinsAT
XM_017000336.1:c.2547+52_2547+53delinsAT XP_016855825.1:n.2547+52_2547+53delinsAT
XM_017000337.1:c.945+52_945+53delinsAT XP_016855826.1:n.945+52_945+53delinsAT
NM_001854.4:c.2394+52_2394+53delinsAT MANE Select NP_001845.3:n.2394+52_2394+53delinsAT
NM_080630.4:c.2046+52_2046+53delinsAT NP_542197.3:n.2046+52_2046+53delinsAT
NR_134980.2:n.2738+52_2738+53delinsAT
NM_001190709.2:c.2277+52_2277+53delinsAT NP_001177638.1:n.2277+52_2277+53delinsAT
NM_080629.3:c.2430+52_2430+53delinsAT NP_542196.2:n.2430+52_2430+53delinsAT