Canonical Allele Identifier: CA2609470373

Gene: COL13A1

Linked Data

• gnomAD v4: 10-69922766-CAGGGCTCCCTGGGCCCCCAGGGCCAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69922770_69922795del , CM000672.2:g.69922770_69922795del	GRCh38
NC_000010.10:g.71682526_71682551del , CM000672.1:g.71682526_71682551del	GRCh37
NC_000010.9:g.71352532_71352557del	NCBI36
NG_046344.1:g.125883_125908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398969.8:c.1232_1256+1del
ENST00000673628.2:c.1107_1131+1del
ENST00000673641.2:c.1107_1131+1del
ENST00000673802.2:c.1029_1053+1del
ENST00000673914.2:c.1039_1063+1del
ENST00000673957.2:c.1144_1168+1del
ENST00000674008.2:c.1233_1257+1del
ENST00000674040.2:c.1196_1220+1del
ENST00000674124.2:c.860_884+1del
ENST00000682048.1:n.393_417+1del
ENST00000682511.1:n.116_140+1del
ENST00000682679.1:c.1232_1256+1del
ENST00000683194.1:n.630_654+1del
ENST00000683633.1:n.558_582+1del
ENST00000683667.1:n.630_654+1del
ENST00000683993.1:n.393_417+1del
ENST00000684309.1:n.630_654+1del
ENST00000684323.1:n.114_138+1del
ENST00000684376.1:n.116_140+1del
ENST00000684387.1:n.824_848+1del
ENST00000357811.8:c.1170_1194+1del
ENST00000398978.8:c.1173_1197+1del
ENST00000645393.2:c.1206_1230+1del
ENST00000673628.1:c.998_1022+1del
ENST00000673641.1:c.923_947+1del
ENST00000673802.1:c.845_869+1del
ENST00000673842.1:c.1119_1143+1del
ENST00000673850.1:c.116_140+1del
ENST00000673914.1:c.956_980+1del
ENST00000673931.1:c.125_149+1del
ENST00000673957.1:c.933_957+1del
ENST00000674008.1:c.1196_1220+1del
ENST00000674040.1:c.1113_1137+1del
ENST00000674050.1:c.484_508+1del
ENST00000674121.1:c.1002_1026+1del
ENST00000674124.1:c.558_582+1del
ENST00000354547.7:c.1107_1131+1del
ENST00000357811.7:c.1107_1131+1del
ENST00000398969.7:c.993_1017+1del
ENST00000398978.7:c.1173_1197+1del
ENST00000479733.5:c.1200_1224+1del
ENST00000517713.5:c.1107_1131+1del
ENST00000520133.5:c.1020_1044+1del
ENST00000520267.5:c.1002_1026+1del
ENST00000522165.5:c.1116_1140+1del
NM_001130103.1:c.1173_1197+1del
NM_080798.3:c.1002_1026+1del
NM_080800.3:c.1116_1140+1del
NM_080801.3:c.1107_1131+1del
NM_080802.3:c.1107_1131+1del
NM_080805.3:c.1020_1044+1del
XM_011539292.1:c.1206_1230+1del
XM_011539293.1:c.1206_1230+1del
XM_011539294.1:c.1143_1167+1del
XM_011539295.1:c.1206_1230+1del
NM_001320951.1:c.1143_1167+1del
XM_011539292.3:c.1206_1230+1del
XM_011539293.3:c.1206_1230+1del
XM_011539294.3:c.1143_1167+1del
XM_011539295.3:c.1206_1230+1del
XM_017015676.2:c.1206_1230+1del
XM_017015677.2:c.1206_1230+1del
XM_017015679.2:c.1206_1230+1del
XM_017015680.2:c.1206_1230+1del
XM_017015681.2:c.1143_1167+1del
XM_017015682.2:c.1206_1230+1del
XM_017015683.2:c.1170_1194+1del
XM_017015684.2:c.1107_1131+1del
XM_017015685.2:c.1143_1167+1del
XM_017015686.2:c.1143_1167+1del
XM_017015687.2:c.1206_1230+1del
XM_017015688.2:c.1143_1167+1del
XM_017015689.2:c.1143_1167+1del
XM_017015690.2:c.1116_1140+1del
XM_017015691.2:c.1143_1167+1del
XM_017015692.2:c.1107_1131+1del
XM_017015693.2:c.1143_1167+1del
XM_017015694.2:c.1002_1026+1del
XM_017015695.2:c.1002_1026+1del
XM_017015697.2:c.543_567+1del
XM_024447815.1:c.1206_1230+1del
XM_024447816.1:c.1020_1044+1del
XM_024447817.1:c.1029_1053+1del
XM_024447818.1:c.1002_1026+1del
XR_001747024.2:n.1769_1793+1del
NM_001130103.2:c.1173_1197+1del
NM_001320951.2:c.1143_1167+1del
NM_001368882.1:c.1206_1230+1del
NM_001368883.1:c.1170_1194+1del
NM_001368884.1:c.1143_1167+1del
NM_001368885.1:c.1107_1131+1del
NM_001368886.1:c.543_567+1del
NM_001368895.1:c.1116_1140+1del
NM_001368896.1:c.1002_1026+1del
NM_001368897.1:c.1029_1053+1del
NM_001368898.1:c.1002_1026+1del
NM_080798.4:c.1002_1026+1del
NM_080800.4:c.1116_1140+1del
NM_080801.4:c.1107_1131+1del
NM_080802.4:c.1107_1131+1del
NM_080805.4:c.1020_1044+1del