Canonical Allele Identifier: CA1140701981
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102989465_102989478delinsATATATATATATAT , CM000663.2:g.102989465_102989478delinsATATATATATATAT GRCh38
NC_000001.10:g.103455021_103455034delinsATATATATATATAT , CM000663.1:g.103455021_103455034delinsATATATATATATAT GRCh37
NC_000001.9:g.103227609_103227622delinsATATATATATATAT NCBI36
NG_008033.1:g.124019_124032delinsATATATATATATAT
NG_008033.2:g.124019_124032delinsATATATATATATAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2394+40_2394+53delinsATATATATATATAT MANE Select ENSP00000359114.3:n.2394+40_2394+53delinsATATATATATATAT
ENST00000353414.8:c.2277+40_2277+53delinsATATATATATATAT ENSP00000302551.6:n.2277+40_2277+53delinsATATATATATATAT
ENST00000358392.6:c.2430+40_2430+53delinsATATATATATATAT ENSP00000351163.2:n.2430+40_2430+53delinsATATATATATATAT
ENST00000370096.7:c.2394+40_2394+53delinsATATATATATATAT ENSP00000359114.3:n.2394+40_2394+53delinsATATATATATATAT
ENST00000512756.5:c.2046+40_2046+53delinsATATATATATATAT ENSP00000426533.1:n.2046+40_2046+53delinsATATATATATATAT
ENST00000635193.1:c.1712+40_1712+53delinsATATATATATATAT
NM_001190709.1:c.2277+40_2277+53delinsATATATATATATAT NP_001177638.1:n.2277+40_2277+53delinsATATATATATATAT
NM_001854.3:c.2394+40_2394+53delinsATATATATATATAT NP_001845.3:n.2394+40_2394+53delinsATATATATATATAT
NM_080629.2:c.2430+40_2430+53delinsATATATATATATAT NP_542196.2:n.2430+40_2430+53delinsATATATATATATAT
NM_080630.3:c.2046+40_2046+53delinsATATATATATATAT NP_542197.3:n.2046+40_2046+53delinsATATATATATATAT
XM_011540719.1:c.2394+40_2394+53delinsATATATATATATAT XP_011539021.1:n.2394+40_2394+53delinsATATATATATATAT
XM_011540720.1:c.627+40_627+53delinsATATATATATATAT XP_011539022.1:n.627+40_627+53delinsATATATATATATAT
XM_011540721.1:c.-35+40_-35+53delinsATATATATATATAT XP_011539023.1:n.-35+40_-35+53delinsATATATATATATAT
XR_946545.1:n.2792+40_2792+53delinsATATATATATATAT
NR_134980.1:n.2712+40_2712+53delinsATATATATATATAT
XM_017000334.1:c.2547+40_2547+53delinsATATATATATATAT XP_016855823.1:n.2547+40_2547+53delinsATATATATATATAT
XM_017000335.1:c.2541+40_2541+53delinsATATATATATATAT XP_016855824.1:n.2541+40_2541+53delinsATATATATATATAT
XM_017000336.1:c.2547+40_2547+53delinsATATATATATATAT XP_016855825.1:n.2547+40_2547+53delinsATATATATATATAT
XM_017000337.1:c.945+40_945+53delinsATATATATATATAT XP_016855826.1:n.945+40_945+53delinsATATATATATATAT
NM_001854.4:c.2394+40_2394+53delinsATATATATATATAT MANE Select NP_001845.3:n.2394+40_2394+53delinsATATATATATATAT
NM_080630.4:c.2046+40_2046+53delinsATATATATATATAT NP_542197.3:n.2046+40_2046+53delinsATATATATATATAT
NR_134980.2:n.2738+40_2738+53delinsATATATATATATAT
NM_001190709.2:c.2277+40_2277+53delinsATATATATATATAT NP_001177638.1:n.2277+40_2277+53delinsATATATATATATAT
NM_080629.3:c.2430+40_2430+53delinsATATATATATATAT NP_542196.2:n.2430+40_2430+53delinsATATATATATATAT