Canonical Allele Identifier: CA645522725
Gene: COL11A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102946895_102946896delinsAA , CM000663.2:g.102946895_102946896delinsAA GRCh38
NC_000001.10:g.103412451_103412452delinsAA , CM000663.1:g.103412451_103412452delinsAA GRCh37
NC_000001.9:g.103185039_103185040delinsAA NCBI36
NG_008033.1:g.166601_166602delinsTT
NG_008033.2:g.166601_166602delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.3229_3230delinsTT MANE Select ENSP00000359114.3:p.Pro1077Leu
ENST00000353414.8:c.3112_3113delinsTT ENSP00000302551.6:p.Pro1038Leu
ENST00000358392.6:c.3265_3266delinsTT ENSP00000351163.2:p.Pro1089Leu
ENST00000370096.7:c.3229_3230delinsTT ENSP00000359114.3:p.Pro1077Leu
ENST00000512756.5:c.2881_2882delinsTT ENSP00000426533.1:p.Pro961Leu
ENST00000635193.1:c.2563_2564delinsTT
NM_001190709.1:c.3112_3113delinsTT NP_001177638.1:p.Pro1038Leu
NM_001854.3:c.3229_3230delinsTT NP_001845.3:p.Pro1077Leu
NM_080629.2:c.3265_3266delinsTT NP_542196.2:p.Pro1089Leu
NM_080630.3:c.2881_2882delinsTT NP_542197.3:p.Pro961Leu
XM_011540719.1:c.3229_3230delinsTT XP_011539021.1:p.Pro1077Leu
XM_011540720.1:c.1462_1463delinsTT XP_011539022.1:p.Pro488Leu
XM_011540721.1:c.817_818delinsTT XP_011539023.1:p.Pro273Leu
NR_134980.1:n.3563_3564delinsTT
XM_017000334.1:c.3382_3383delinsTT XP_016855823.1:p.Pro1128Leu
XM_017000335.1:c.3376_3377delinsTT XP_016855824.1:p.Pro1126Leu
XM_017000336.1:c.3382_3383delinsTT XP_016855825.1:p.Pro1128Leu
XM_017000337.1:c.1780_1781delinsTT XP_016855826.1:p.Pro594Leu
NM_001854.4:c.3229_3230delinsTT MANE Select NP_001845.3:p.Pro1077Leu
NM_080630.4:c.2881_2882delinsTT NP_542197.3:p.Pro961Leu
NR_134980.2:n.3589_3590delinsTT
NM_001190709.2:c.3112_3113delinsTT NP_001177638.1:p.Pro1038Leu
NM_080629.3:c.3265_3266delinsTT NP_542196.2:p.Pro1089Leu