collagen, type XI, alpha 1 (COL11A1) - coding DNA reference sequence

(used for variant description)

(last modified September 4, 2020)


This file was created to facilitate the description of sequence variants on transcript NM_080629.2 in the COL11A1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008033.2, covering COL11A1 transcript NM_080629.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5018
                                           acacagtactctcagctt       c.-301

 .         .         .         .         .         .                g.5078
 gttggtggaagcccctcatctgccttcattctgaaggcagggcccggcagaggaaggatc       c.-241

 .         .         .         .         .         .                g.5138
 agagggtcgcggccggagggtcccggccggtggggccaactcagagggagaggaaagggc       c.-181

 .         .         .         .         .         .                g.5198
 tagagacacgaagaacgcaaaccatcaaatttagaagaaaaagccctttgactttttccc       c.-121

 .         .         .         .         .         .                g.5258
 cctctccctccccaatggctgtgtagcaaacatccctggcgataccttggaaaggacgaa       c.-61

 .         .         .         .         .         .                g.5318
 gttggtctgcagtcgcaatttcgtgggttgagttcacagttgtgagtgcggggctcggag       c.-1

          .         .         .         .         .         .       g.5378
 ATGGAGCCGTGGTCCTCTAGGTGGAAAACGAAACGGTGGCTCTGGGATTTCACCGTAACA       c.60
 M  E  P  W  S  S  R  W  K  T  K  R  W  L  W  D  F  T  V  T         p.20

          .         .         .         .       | 02 .         .    g.30538
 ACCCTCGCATTGACCTTCCTCTTCCAAGCTAGAGAGGTCAGAGGAG | CTGCTCCAGTTGAT    c.120
 T  L  A  L  T  F  L  F  Q  A  R  E  V  R  G  A |   A  P  V  D      p.40

          .         .         .         .         .         .       g.30598
 GTACTAAAAGCACTAGATTTTCACAATTCTCCAGAGGGAATATCAAAAACAACGGGATTT       c.180
 V  L  K  A  L  D  F  H  N  S  P  E  G  I  S  K  T  T  G  F         p.60

          .         .         .         .         .         .       g.30658
 TGCACAAACAGAAAGAATTCTAAAGGCTCAGATACTGCTTACAGAGTTTCAAAGCAAGCA       c.240
 C  T  N  R  K  N  S  K  G  S  D  T  A  Y  R  V  S  K  Q  A         p.80

          .         .         .     | 03   .         .         .    g.34651
 CAACTCAGTGCCCCAACAAAACAGTTATTTCCAG | GTGGAACTTTCCCAGAAGACTTTTCA    c.300
 Q  L  S  A  P  T  K  Q  L  F  P  G |   G  T  F  P  E  D  F  S      p.100

          .         .         .         .         .         .       g.34711
 ATACTATTTACAGTAAAACCAAAAAAAGGAATTCAGTCTTTCCTTTTATCTATATATAAT       c.360
 I  L  F  T  V  K  P  K  K  G  I  Q  S  F  L  L  S  I  Y  N         p.120

          .         .         .         .         .         .       g.34771
 GAGCATGGTATTCAGCAAATTGGTGTTGAGGTTGGGAGATCACCTGTTTTTCTGTTTGAA       c.420
 E  H  G  I  Q  Q  I  G  V  E  V  G  R  S  P  V  F  L  F  E         p.140

          .         .         .         .         .         .       g.34831
 GACCACACTGGAAAACCTGCCCCAGAAGACTATCCCCTCTTCAGAACTGTTAACATCGCT       c.480
 D  H  T  G  K  P  A  P  E  D  Y  P  L  F  R  T  V  N  I  A         p.160

          | 04         .         .         .         .         .    g.38768
 GACGGGAA | GTGGCATCGGGTAGCAATCAGCGTGGAGAAGAAAACTGTGACAATGATTGTT    c.540
 D  G  K  |  W  H  R  V  A  I  S  V  E  K  K  T  V  T  M  I  V      p.180

          .         .         .         .         .         .       g.38828
 GATTGTAAGAAGAAAACCACGAAACCACTTGATAGAAGTGAGAGAGCAATTGTTGATACC       c.600
 D  C  K  K  K  T  T  K  P  L  D  R  S  E  R  A  I  V  D  T         p.200

          .         .         .         .         .  | 05      .    g.82261
 AATGGAATCACGGTTTTTGGAACAAGGATTTTGGATGAAGAAGTTTTTGAG | GGGGACATT    c.660
 N  G  I  T  V  F  G  T  R  I  L  D  E  E  V  F  E   | G  D  I      p.220

          .         .         .         .         .         .       g.82321
 CAGCAGTTTTTGATCACAGGTGATCCCAAGGCAGCATATGACTACTGTGAGCATTATAGT       c.720
 Q  Q  F  L  I  T  G  D  P  K  A  A  Y  D  Y  C  E  H  Y  S         p.240

          .         .         .         .         .         .       g.82381
 CCAGACTGTGACTCTTCAGCACCCAAGGCTGCTCAAGCTCAGGAACCTCAGATAGATGAG       c.780
 P  D  C  D  S  S  A  P  K  A  A  Q  A  Q  E  P  Q  I  D  E         p.260

  | 06       .         .         .         .         .         .    g.87604
  | AAAAAGAAATCCAATTTCAAAAAGAAGATGAGGACAGTGGCTACTAAATCAAAGGAAAAA    c.840
  | K  K  K  S  N  F  K  K  K  M  R  T  V  A  T  K  S  K  E  K      p.280

          .         .         .         .         .         .       g.87664
 TCCAAAAAGTTTACACCCCCCAAATCTGAAAAATTTTCATCCAAGAAGAAGAAAAGTTAT       c.900
 S  K  K  F  T  P  P  K  S  E  K  F  S  S  K  K  K  K  S  Y         p.300

          .         .         .    | 07    .         .         .    g.87910
 CAAGCATCAGCAAAAGCCAAACTAGGGGTAAAG | GCAAACATCGTTGATGATTTTCAAGAA    c.960
 Q  A  S  A  K  A  K  L  G  V  K   | A  N  I  V  D  D  F  Q  E      p.320

          .         .         .         .         .         .       g.87970
 TACAACTATGGAACAATGGAAAGTTACCAGACAGAAGCTCCTAGGCATGTTTCTGGGACA       c.1020
 Y  N  Y  G  T  M  E  S  Y  Q  T  E  A  P  R  H  V  S  G  T         p.340

        | 08 .         .         .         .         .         .    g.90554
 AATGAG | CCAAATCCAGTTGAAGAAATATTTACTGAAGAATATCTAACGGGAGAGGATTAT    c.1080
 N  E   | P  N  P  V  E  E  I  F  T  E  E  Y  L  T  G  E  D  Y      p.360

          .         .         .         .         .         .       g.90614
 GATTCCCAGAGGAAAAATTCTGAGGATACACTATATGAAAACAAAGAAATAGACGGCAGG       c.1140
 D  S  Q  R  K  N  S  E  D  T  L  Y  E  N  K  E  I  D  G  R         p.380

          .         .         .         .         .         .       g.90674
 GATTCTGATCTTCTGGTAGATGGAGATTTAGGCGAATATGATTTTTATGAATATAAAGAA       c.1200
 D  S  D  L  L  V  D  G  D  L  G  E  Y  D  F  Y  E  Y  K  E         p.400

          .         .         .         .         .         .       g.90734
 TATGAAGATAAACCAACAAGCCCCCCTAATGAAGAATTTGGTCCAGGTGTACCAGCAGAA       c.1260
 Y  E  D  K  P  T  S  P  P  N  E  E  F  G  P  G  V  P  A  E         p.420

          .         .  | 09      .         .         .         .    g.91766
 ACTGATATTACAGAAACAAGC | ATAAATGGCCATGGTGCATATGGAGAGAAAGGACAGAAA    c.1320
 T  D  I  T  E  T  S   | I  N  G  H  G  A  Y  G  E  K  G  Q  K      p.440

          .         .     | 10   .         .         .         .    g.94673
 GGAGAACCAGCAGTGGTTGAGCCT | GGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGA    c.1380
 G  E  P  A  V  V  E  P   | G  M  L  V  E  G  P  P  G  P  A  G      p.460

        | 11 .         .         .         .         .         .    g.95668
 CCTGCA | GGTATTATGGGTCCTCCAGGTCTACAAGGCCCCACTGGACCCCCTGGTGACCCT    c.1440
 P  A   | G  I  M  G  P  P  G  L  Q  G  P  T  G  P  P  G  D  P      p.480

           | 12        .         .         .         .         .    g.97805
 GGCGATAGG | GGCCCCCCAGGACGTCCTGGCTTACCAGGGGCTGATGGTCTACCTGGTCCT    c.1500
 G  D  R   | G  P  P  G  R  P  G  L  P  G  A  D  G  L  P  G  P      p.500

          .         .     | 13   .         .         .         .    g.98938
 CCTGGTACTATGTTGATGTTACCG | TTCCGTTATGGTGGTGATGGTTCCAAAGGACCAACC    c.1560
 P  G  T  M  L  M  L  P   | F  R  Y  G  G  D  G  S  K  G  P  T      p.520

          .         .         .         .         | 14         .    g.101039
 ATCTCTGCTCAGGAAGCTCAGGCTCAAGCTATTCTTCAGCAGGCTCGG | ATTGCTCTGAGA    c.1620
 I  S  A  Q  E  A  Q  A  Q  A  I  L  Q  Q  A  R   | I  A  L  R      p.540

          .         .         .         .      | 15  .         .    g.104995
 GGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCAGGTCCTGTG | GGGGGGCCTGGTTCA    c.1680
 G  P  P  G  P  M  G  L  T  G  R  P  G  P  V   | G  G  P  G  S      p.560

          .         .         .          | 16        .         .    g.107202
 TCTGGGGCCAAAGGTGAGAGTGGTGATCCAGGTCCTCAG | GGCCCTCGAGGCGTCCAGGGT    c.1740
 S  G  A  K  G  E  S  G  D  P  G  P  Q   | G  P  R  G  V  Q  G      p.580

          .         .         .    | 17    .         .         .    g.107402
 CCCCCTGGTCCAACGGGAAAACCTGGAAAAAGG | GGTCGTCCAGGTGCAGATGGAGGAAGA    c.1800
 P  P  G  P  T  G  K  P  G  K  R   | G  R  P  G  A  D  G  G  R      p.600

          .         .        | 18.         .         .         .    g.107638
 GGAATGCCAGGAGAACCTGGGGCAAAG | GGAGATCGAGGGTTTGATGGACTTCCGGGTCTG    c.1860
 G  M  P  G  E  P  G  A  K   | G  D  R  G  F  D  G  L  P  G  L      p.620

          .         .  | 19      .         .         .         .    g.108874
 CCAGGTGACAAAGGTCACAGG | GGTGAACGAGGTCCTCAAGGTCCTCCAGGTCCTCCTGGT    c.1920
 P  G  D  K  G  H  R   | G  E  R  G  P  Q  G  P  P  G  P  P  G      p.640

          .      | 20  .         .         .         .         .    g.109053
 GATGATGGAATGAGG | GGAGAAGATGGAGAAATTGGACCAAGAGGTCTTCCAGGTGAAGCT    c.1980
 D  D  G  M  R   | G  E  D  G  E  I  G  P  R  G  L  P  G  E  A      p.660

  | 21       .         .         .         .         .     | 22   . g.110711
  | GGCCCACGAGGTTTGCTGGGTCCAAGGGGAACTCCAGGAGCTCCAGGGCAGCCT | GGTATG c.2040
  | G  P  R  G  L  L  G  P  R  G  T  P  G  A  P  G  Q  P   | G  M   p.680

          .         .         .          | 23        .         .    g.111036
 GCAGGTGTAGATGGCCCCCCAGGACCAAAAGGGAACATG | GGTCCCCAAGGGGAGCCTGGG    c.2100
 A  G  V  D  G  P  P  G  P  K  G  N  M   | G  P  Q  G  E  P  G      p.700

          .         .         .    | 24    .         .         .    g.111554
 CCTCCAGGTCAACAAGGGAATCCAGGACCTCAG | GGTCTTCCTGGTCCACAAGGTCCAATT    c.2160
 P  P  G  Q  Q  G  N  P  G  P  Q   | G  L  P  G  P  Q  G  P  I      p.720

          .         | 25         .         .         .         .    g.115175
 GGTCCTCCTGGTGAAAAA | GGACCACAAGGAAAACCAGGACTTGCTGGACTTCCTGGTGCT    c.2220
 G  P  P  G  E  K   | G  P  Q  G  K  P  G  L  A  G  L  P  G  A      p.740

          .   | 26     .         .         .         .        | 27. g.117457
 GATGGGCCTCCT | GGTCATCCTGGGAAAGAAGGCCAGTCTGGAGAAAAGGGGGCTCTG | GGT c.2280
 D  G  P  P   | G  H  P  G  K  E  G  Q  S  G  E  K  G  A  L   | G   p.760

          .         .         .         .         .  | 28      .    g.117597
 CCCCCTGGTCCACAAGGTCCTATTGGATACCCGGGCCCCCGGGGAGTAAAG | GGAGCAGAT    c.2340
 P  P  G  P  Q  G  P  I  G  Y  P  G  P  R  G  V  K   | G  A  D      p.780

          .         .         .       | 29 .         .         .    g.123949
 GGTGTCAGAGGTCTCAAGGGATCTAAAGGTGAAAAG | GGTGAAGATGGTTTTCCAGGATTC    c.2400
 G  V  R  G  L  K  G  S  K  G  E  K   | G  E  D  G  F  P  G  F      p.800

          .         .         . | 30       .         .         .    g.125786
 AAAGGTGACATGGGTCTAAAAGGTGACAGA | GGAGAAGTTGGTCAAATTGGCCCAAGAGGG    c.2460
 K  G  D  M  G  L  K  G  D  R   | G  E  V  G  Q  I  G  P  R  G      p.820

          .         .         .         .         .         .       g.125846
 GAAGATGGCCCTGAAGGACCCAAAGGTCGAGCAGGCCCAACTGGAGACCCAGGTCCTTCA       c.2520
 E  D  G  P  E  G  P  K  G  R  A  G  P  T  G  D  P  G  P  S         p.840

          .         | 31         .         .         .         .    g.129347
 GGTCAAGCAGGAGAAAAG | GGAAAACTTGGAGTTCCAGGATTACCAGGATATCCAGGAAGA    c.2580
 G  Q  A  G  E  K   | G  K  L  G  V  P  G  L  P  G  Y  P  G  R      p.860

          .   | 32     .         .         .         .         .    g.134109
 CAAGGTCCAAAG | GGTTCCACTGGATTCCCTGGGTTTCCAGGTGCCAATGGAGAGAAAGGT    c.2640
 Q  G  P  K   | G  S  T  G  F  P  G  F  P  G  A  N  G  E  K  G      p.880

        | 33 .         .         .         .         .  | 34      . g.134592
 GCACGG | GGAGTAGCTGGCAAACCAGGCCCTCGGGGTCAGCGTGGTCCAACG | GGTCCTCGA c.2700
 A  R   | G  V  A  G  K  P  G  P  R  G  Q  R  G  P  T   | G  P  R   p.900

          .         .         .         .      | 35  .         .    g.134759
 GGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCTGGGCCAAAG | GGCACTTCAGGTGGC    c.2760
 G  S  R  G  A  R  G  P  T  G  K  P  G  P  K   | G  T  S  G  G      p.920

          .         .         . | 36       .         .         .    g.138643
 GATGGCCCTCCTGGCCCTCCAGGTGAAAGA | GGTCCTCAAGGACCTCAGGGTCCAGTTGGA    c.2820
 D  G  P  P  G  P  P  G  E  R   | G  P  Q  G  P  Q  G  P  V  G      p.940

          .         .     | 37   .         .         .         .    g.143260
 TTCCCTGGACCAAAAGGCCCTCCT | GGACCACCTGGGAAGGATGGGCTGCCAGGACACCCT    c.2880
 F  P  G  P  K  G  P  P   | G  P  P  G  K  D  G  L  P  G  H  P      p.960

          .         | 38         .         .         .         .    g.147998
 GGGCAACGTGGGGAGACT | GGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTG    c.2940
 G  Q  R  G  E  T   | G  F  Q  G  K  T  G  P  P  G  P  G  G  V      p.980

          .   | 39     .         .         .         .         .    g.150784
 GTTGGACCACAG | GGACCAACCGGTGAGACTGGTCCAATAGGGGAACGTGGGCATCCTGGC    c.3000
 V  G  P  Q   | G  P  T  G  E  T  G  P  I  G  E  R  G  H  P  G      p.1000

          .         .         .         .         .         .       g.150844
 CCTCCTGGCCCTCCTGGTGAGCAAGGTCTTCCTGGTGCTGCAGGAAAAGAAGGTGCAAAG       c.3060
 P  P  G  P  P  G  E  Q  G  L  P  G  A  A  G  K  E  G  A  K         p.1020

  | 40       .         .         .         .         .         .    g.151291
  | GGTGATCCAGGTCCTCAAGGTATCTCAGGGAAAGATGGACCAGCAGGATTACGTGGTTTC    c.3120
  | G  D  P  G  P  Q  G  I  S  G  K  D  G  P  A  G  L  R  G  F      p.1040

          .         .         . | 41       .         .         .    g.151607
 CCAGGGGAAAGAGGTCTTCCTGGAGCTCAG | GGTGCACCTGGACTGAAAGGAGGGGAAGGT    c.3180
 P  G  E  R  G  L  P  G  A  Q   | G  A  P  G  L  K  G  G  E  G      p.1060

          .         .     | 42   .         .         .         .    g.166576
 CCCCAGGGCCCACCAGGTCCAGTT | GGCTCACCAGGAGAACGTGGGTCAGCAGGTACAGCT    c.3240
 P  Q  G  P  P  G  P  V   | G  S  P  G  E  R  G  S  A  G  T  A      p.1080

          .         .         .         .         .         .       g.166636
 GGCCCAATTGGTTTACCAGGGCGCCCGGGACCTCAGGGTCCTCCTGGTCCAGCTGGAGAG       c.3300
 G  P  I  G  L  P  G  R  P  G  P  Q  G  P  P  G  P  A  G  E         p.1100

          .   | 43     .         .         .         .         .    g.173110
 AAAGGTGCTCCT | GGAGAAAAAGGTCCCCAAGGGCCTGCAGGGAGAGATGGAGTTCAAGGT    c.3360
 K  G  A  P   | G  E  K  G  P  Q  G  P  A  G  R  D  G  V  Q  G      p.1120

          .         .         .         .         .         .       g.173170
 CCTGTTGGTCTCCCAGGGCCAGCTGGTCCTGCCGGCTCCCCTGGGGAAGACGGAGACAAG       c.3420
 P  V  G  L  P  G  P  A  G  P  A  G  S  P  G  E  D  G  D  K         p.1140

  | 44       .         .         .         .         .     | 45   . g.178389
  | GGTGAAATTGGTGAGCCGGGACAAAAAGGCAGCAAGGGTGACAAGGGAGAAAAT | GGCCCT c.3480
  | G  E  I  G  E  P  G  Q  K  G  S  K  G  D  K  G  E  N   | G  P   p.1160

          .         .         .         .         | 46         .    g.178952
 CCCGGTCCCCCAGGTCTTCAAGGACCAGTTGGTGCCCCTGGAATTGCT | GGAGGTGATGGT    c.3540
 P  G  P  P  G  L  Q  G  P  V  G  A  P  G  I  A   | G  G  D  G      p.1180

          .         .         .         .         .         .       g.179012
 GAACCAGGTCCTAGAGGACAGCAGGGGATGTTTGGGCAAAAAGGTGATGAGGGTGCCAGA       c.3600
 E  P  G  P  R  G  Q  Q  G  M  F  G  Q  K  G  D  E  G  A  R         p.1200

          .         .         .       | 47 .         .         .    g.190131
 GGCTTCCCTGGACCTCCTGGTCCAATAGGTCTTCAG | GGTCTGCCAGGCCCACCTGGTGAA    c.3660
 G  F  P  G  P  P  G  P  I  G  L  Q   | G  L  P  G  P  P  G  E      p.1220

          .         .         . | 48       .         .         .    g.191955
 AAAGGTGAAAATGGGGATGTTGGTCCCATG | GGGCCACCTGGTCCTCCAGGCCCAAGAGGC    c.3720
 K  G  E  N  G  D  V  G  P  M   | G  P  P  G  P  P  G  P  R  G      p.1240

          .         .     | 49   .         .         .         .    g.193168
 CCTCAAGGTCCCAATGGAGCTGAT | GGACCACAAGGACCCCCAGGGTCTGTTGGTTCAGTT    c.3780
 P  Q  G  P  N  G  A  D   | G  P  Q  G  P  P  G  S  V  G  S  V      p.1260

          .         | 50         .         .         .         .    g.197854
 GGTGGTGTTGGAGAAAAG | GGTGAACCTGGAGAAGCAGGGAACCCAGGGCCTCCTGGGGAA    c.3840
 G  G  V  G  E  K   | G  E  P  G  E  A  G  N  P  G  P  P  G  E      p.1280

          .   | 51     .         .         .         .         .    g.198733
 GCAGGTGTAGGC | GGTCCCAAAGGAGAAAGAGGAGAGAAAGGGGAAGCTGGTCCACCTGGA    c.3900
 A  G  V  G   | G  P  K  G  E  R  G  E  K  G  E  A  G  P  P  G      p.1300

          .         .         .         .         .         .       g.198793
 GCTGCTGGACCTCCAGGTGCCAAGGGGCCACCAGGTGATGATGGCCCTAAGGGTAACCCG       c.3960
 A  A  G  P  P  G  A  K  G  P  P  G  D  D  G  P  K  G  N  P         p.1320

  | 52       .         .         .         .         .     | 53   . g.199812
  | GGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCA | GGTCAA c.4020
  | G  P  V  G  F  P  G  D  P  G  P  P  G  E  P  G  P  A   | G  Q   p.1340

          .         .         .         .         | 54         .    g.201296
 GATGGTGTTGGTGGTGACAAGGGTGAAGATGGAGATCCTGGTCAACCG | GGTCCTCCTGGC    c.4080
 D  G  V  G  G  D  K  G  E  D  G  D  P  G  Q  P   | G  P  P  G      p.1360

          .         .         .         .   | 55     .         .    g.214520
 CCATCTGGTGAGGCTGGCCCACCAGGTCCTCCTGGAAAACGA | GGTCCTCCTGGAGCTGCA    c.4140
 P  S  G  E  A  G  P  P  G  P  P  G  K  R   | G  P  P  G  A  A      p.1380

          .         .         .       | 56 .         .         .    g.214747
 GGTGCAGAGGGAAGACAAGGTGAAAAAGGTGCTAAG | GGGGAAGCAGGTGCAGAAGGTCCT    c.4200
 G  A  E  G  R  Q  G  E  K  G  A  K   | G  E  A  G  A  E  G  P      p.1400

          .         .         .         .         .         .       g.214807
 CCTGGAAAAACCGGCCCAGTCGGTCCTCAGGGACCTGCAGGAAAGCCTGGTCCAGAAGGT       c.4260
 P  G  K  T  G  P  V  G  P  Q  G  P  A  G  K  P  G  P  E  G         p.1420

          .         .     | 57   .         .         .         .    g.215354
 CTTCGGGGCATCCCTGGTCCTGTG | GGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGAT    c.4320
 L  R  G  I  P  G  P  V   | G  E  Q  G  L  P  G  A  A  G  Q  D      p.1440

          .         | 58         .         .         .         .    g.223034
 GGACCACCTGGTCCTATG | GGACCTCCTGGCTTACCTGGTCTCAAAGGTGACCCTGGCTCC    c.4380
 G  P  P  G  P  M   | G  P  P  G  L  P  G  L  K  G  D  P  G  S      p.1460

          .   | 59     .         .         .         .         .    g.223982
 AAGGGTGAAAAG | GGACATCCTGGTTTAATTGGCCTGATTGGTCCTCCAGGAGAACAAGGG    c.4440
 K  G  E  K   | G  H  P  G  L  I  G  L  I  G  P  P  G  E  Q  G      p.1480

          .         .         .         .         .         .       g.224042
 GAAAAAGGTGACCGAGGGCTCCCTGGAACTCAAGGATCTCCAGGAGCAAAAGGGGATGGG       c.4500
 E  K  G  D  R  G  L  P  G  T  Q  G  S  P  G  A  K  G  D  G         p.1500

  | 60       .         .         .         .         .     | 61   . g.224744
  | GGAATTCCTGGTCCTGCTGGTCCCTTAGGTCCACCTGGTCCTCCAGGTTTACCA | GGTCCT c.4560
  | G  I  P  G  P  A  G  P  L  G  P  P  G  P  P  G  L  P   | G  P   p.1520

          .         .         . | 62       .         .         .    g.224896
 CAAGGCCCAAAGGGTAACAAAGGCTCTACT | GGACCCGCTGGCCAGAAAGGTGACAGTGGT    c.4620
 Q  G  P  K  G  N  K  G  S  T   | G  P  A  G  Q  K  G  D  S  G      p.1540

          .         .     | 63   .         .         .         .    g.226476
 CTTCCAGGGCCTCCTGGGTCTCCA | GGTCCACCTGGTGAAGTCATTCAGCCTTTACCAATC    c.4680
 L  P  G  P  P  G  S  P   | G  P  P  G  E  V  I  Q  P  L  P  I      p.1560

          .         .         .         .         .         .       g.226536
 TTGTCCTCCAAAAAAACGAGAAGACATACTGAAGGCATGCAAGCAGATGCAGATGATAAT       c.4740
 L  S  S  K  K  T  R  R  H  T  E  G  M  Q  A  D  A  D  D  N         p.1580

          .         .         .         .         .         .       g.226596
 ATTCTTGATTACTCGGATGGAATGGAAGAAATATTTGGTTCCCTCAATTCCCTGAAACAA       c.4800
 I  L  D  Y  S  D  G  M  E  E  I  F  G  S  L  N  S  L  K  Q         p.1600

          .         .         .         .         .         .       g.226656
 GACATTGAGCATATGAAATTTCCAATGGGTACTCAGACCAATCCAGCCCGAACTTGTAAA       c.4860
 D  I  E  H  M  K  F  P  M  G  T  Q  T  N  P  A  R  T  C  K         p.1620

          .         .         .     | 64   .         .         .    g.230211
 GACCTGCAACTCAGCCATCCTGACTTCCCAGATG | GTGAATATTGGATTGATCCTAACCAA    c.4920
 D  L  Q  L  S  H  P  D  F  P  D  G |   E  Y  W  I  D  P  N  Q      p.1640

          .         .         .         .         .         .       g.230271
 GGTTGCTCAGGAGATTCCTTCAAAGTTTACTGTAATTTCACATCTGGTGGTGAGACTTGC       c.4980
 G  C  S  G  D  S  F  K  V  Y  C  N  F  T  S  G  G  E  T  C         p.1660

          .         .        | 65.         .         .         .    g.231764
 ATTTATCCAGACAAAAAATCTGAGGGA | GTAAGAATTTCATCATGGCCAAAGGAGAAACCA    c.5040
 I  Y  P  D  K  K  S  E  G   | V  R  I  S  S  W  P  K  E  K  P      p.1680

          .         .         .       | 66 .         .         .    g.233604
 GGAAGTTGGTTTAGTGAATTTAAGAGGGGAAAACTG | CTTTCATACTTAGATGTTGAAGGA    c.5100
 G  S  W  F  S  E  F  K  R  G  K  L   | L  S  Y  L  D  V  E  G      p.1700

          .         .         .         .         .         .       g.233664
 AATTCCATCAATATGGTGCAAATGACATTCCTGAAACTTCTGACTGCCTCTGCTCGGCAA       c.5160
 N  S  I  N  M  V  Q  M  T  F  L  K  L  L  T  A  S  A  R  Q         p.1720

          .         .         .         .         .         .       g.233724
 AATTTCACCTACCACTGTCATCAGTCAGCAGCCTGGTATGATGTGTCATCAGGAAGTTAT       c.5220
 N  F  T  Y  H  C  H  Q  S  A  A  W  Y  D  V  S  S  G  S  Y         p.1740

          .         .         .         .         .         .       g.233784
 GACAAAGCACTTCGCTTCCTGGGATCAAATGATGAGGAGATGTCCTATGACAATAATCCT       c.5280
 D  K  A  L  R  F  L  G  S  N  D  E  E  M  S  Y  D  N  N  P         p.1760

          .         .         . | 67       .         .         .    g.235361
 TTTATCAAAACACTGTATGATGGTTGTGCG | TCCAGAAAAGGCTATGAAAAGACTGTCATT    c.5340
 F  I  K  T  L  Y  D  G  C  A   | S  R  K  G  Y  E  K  T  V  I      p.1780

          .         .         .         .         .         .       g.235421
 GAAATCAATACACCAAAAATTGATCAAGTACCTATTGTTGATGTCATGATCAATGACTTT       c.5400
 E  I  N  T  P  K  I  D  Q  V  P  I  V  D  V  M  I  N  D  F         p.1800

          .         .         .         .         .                 g.235478
 GGTGATCAGAATCAGAAGTTCGGATTTGAAGTTGGTCCTGTTTGTTTTCTTGGCTAA          c.5457
 G  D  Q  N  Q  K  F  G  F  E  V  G  P  V  C  F  L  G  X            p.1818

          .         .         .         .         .         .       g.235538
 gattaagacaaagaacatatcaaatcaacagaaaatataccttggtgccaccaacccatt       c.*60

          .         .         .         .         .         .       g.235598
 ttgtgccacatgcaagttttgaataaggatggtatagaaaacaacgctgcatatacaggt       c.*120

          .         .         .         .         .         .       g.235658
 accatttaggaaataccgatgcctttgtgggggcagaatcacatggcaaaagctttgaaa       c.*180

          .         .         .         .         .         .       g.235718
 atcataaagatataagttggtgtggctaagatggaaacagggctgattcttgattcccaa       c.*240

          .         .         .         .         .         .       g.235778
 ttctcaactctccttttcctatttgaatttctttggtgctgtagaaaacaaaaaaagaaa       c.*300

          .         .         .         .         .         .       g.235838
 aatatatattcataaaaaatatggtgctcattctcatccatccaggatgtactaaaacag       c.*360

          .         .         .         .         .         .       g.235898
 tgtgtttaataaattgtaattattttgtgtacagttctatactgttatctgtgtccattt       c.*420

          .         .         .         .         .         .       g.235958
 ccaaaacttgcacgtgtccctgaattccatctgactctaattttatgagaattgcagaac       c.*480

          .         .         .         .         .         .       g.236018
 tctgatggcaataaatatatgtattatgaaaaaataaagttgtaatttctgatgactcta       c.*540

          .         .         .         .         .         .       g.236078
 agtccctttctttggttaataataaaatgcctttgtatatattgatgttgaagagttcaa       c.*600

          .         .         .         .         .         .       g.236138
 ttatttgatgtcgccaacaaaattctcagagggcaaaaatctggaagacttttggaagca       c.*660

          .         .         .         .         .         .       g.236198
 cactctgatcaactcttctctgccgacagtcattttgctgaatttcagccaaaaatatta       c.*720

          .         .         .         .         .         .       g.236258
 tgcattttgatgctttattcaaggctatacctcaaactttttcttctcagaatccaggat       c.*780

          .         .         .         .         .         .       g.236318
 ttcacaggatacttgtatatatggaaaacaagcaagtttatatttttggacagggaaatg       c.*840

          .         .         .         .         .         .       g.236378
 tgtgtaagaaagtatattaacaaatcaatgcctccgtcaagcaaacaatcatatgtatac       c.*900

          .         .         .         .         .         .       g.236438
 tttttttctacgttatctcatctccttgttttcagtgtgcttcaataatgcaggttaata       c.*960

          .         .         .         .         .         .       g.236498
 ttaaagatggaaattaagcaattatttatgaatttgtgcaatgttagattttcttatcaa       c.*1020

          .         .         .         .         .         .       g.236558
 tcaagttcttgaatttgattctaagttgcatattataacagtctcgaaaattattttact       c.*1080

          .         .         .         .         .         .       g.236618
 tgcccaacaaatattacttttttcctttcaagataattttataaatcatttgacctacct       c.*1140

          .         .         .         .         .         .       g.236678
 aattgctaaatgaataacatatggtggactgttattaagagtatttgttttaagtcattc       c.*1200

          .         .         .         .         .         .       g.236738
 aggaaaatctaaacttttttttccactaaggtatttactttaaggtagcttgaaatagca       c.*1260

          .         .         .         .         .         .       g.236798
 atacaatttaaaaattaaaaactgaattttgtatctattttaagtaatatatgtaagact       c.*1320

          .         .         .         .         .         .       g.236858
 tgaaaataaatgttttatttcttatataaagtgttaaattaattgataccagatttcact       c.*1380

          .         .         .         .         .         .       g.236918
 ggaacagtttcaactgataatttatgacaaaagaacatacctgtaatattgaaattaaaa       c.*1440

          .         .         .         .         .         .       g.236978
 agtgaaatttgtcataaagaatttcttttatttttgaaatcgagtttgtaaatgtccttt       c.*1500

          .         .         .         .         .                 g.237030
 taagaagggagatatgaatccaataaataaactcaagtcttggctacctgga               c.*1552

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Collagen, type XI, alpha 1 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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