Canonical Allele Identifier: CA2993564782
Community Standard Title: NM_001854.4(COL11A1):c.948_949insAT (p.Tyr317IlefsTer28)
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.103025563_103025564insTA , CM000663.2:g.103025563_103025564insTA GRCh38
NC_000001.10:g.103491119_103491120insTA , CM000663.1:g.103491119_103491120insTA GRCh37
NC_000001.9:g.103263707_103263708insTA NCBI36
NG_008033.1:g.87934_87935insAT
NG_008033.2:g.87934_87935insAT

Transcript Alleles

HGVS Amino-acid Change
NM_001854.4:c.948_949insAT MANE Select NP_001845.3:p.Tyr317IlefsTer28
ENST00000370096.9:c.948_949insAT MANE Select ENSP00000359114.3:p.Tyr317IlefsTer28
NM_001190709.1:c.831_832insAT NP_001177638.1:p.Tyr278IlefsTer28
NM_001190709.2:c.831_832insAT NP_001177638.1:p.Tyr278IlefsTer28
NM_001854.3:c.948_949insAT NP_001845.3:p.Tyr317IlefsTer28
NM_080629.2:c.984_985insAT NP_542196.2:p.Tyr329IlefsTer28
NM_080629.3:c.984_985insAT NP_542196.2:p.Tyr329IlefsTer28
NM_080630.3:c.897+653_897+654insAT NP_542197.3:n.897+653_897+654insAT
NM_080630.4:c.897+653_897+654insAT NP_542197.3:n.897+653_897+654insAT
NR_134980.1:n.1266_1267insAT
NR_134980.2:n.1292_1293insAT
ENST00000353414.8:c.831_832insAT ENSP00000302551.6:p.Tyr278IlefsTer28
ENST00000358392.6:c.984_985insAT ENSP00000351163.2:p.Tyr329IlefsTer28
ENST00000370096.7:c.948_949insAT ENSP00000359114.3:p.Tyr317IlefsTer28
ENST00000427239.5:c.984_985insAT ENSP00000408640.1:p.Tyr329IlefsTer28
ENST00000461720.6:c.1101_1102insAT ENSP00000494909.1:p.Tyr368IlefsTer28
ENST00000512756.5:c.897+653_897+654insAT ENSP00000426533.1:n.897+653_897+654insAT
ENST00000635193.1:c.266_267insAT
ENST00000644186.1:c.948_949insAT ENSP00000493821.1:p.Tyr317IlefsTer28
ENST00000645458.1:c.948_949insAT ENSP00000494179.1:p.Tyr317IlefsTer28
ENST00000647280.1:c.948_949insAT ENSP00000494583.1:p.Tyr317IlefsTer28
XM_011540719.1:c.948_949insAT XP_011539021.1:p.Tyr317IlefsTer28
XM_011540721.1:c.-1481_-1480insAT XP_011539023.1:n.-1481_-1480insAT
XM_017000334.1:c.1101_1102insAT XP_016855823.1:p.Tyr368IlefsTer28
XM_017000335.1:c.1095_1096insAT XP_016855824.1:p.Tyr366IlefsTer28
XM_017000336.1:c.1101_1102insAT XP_016855825.1:p.Tyr368IlefsTer28
XR_946545.1:n.1346_1347insAT