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

(used for variant description)

(last modified December 27, 2021)


This file was created to facilitate the description of sequence variants on transcript NM_001854.3 in the COL11A1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering COL11A1 transcript NM_001854.3.


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.87224
  | TATGCACCAGAGGATATAATCGAATATGACTATGAGTATGGGGAAGCAGAGTATAAAGAG    c.840
  | Y  A  P  E  D  I  I  E  Y  D  Y  E  Y  G  E  A  E  Y  K  E      p.280

          .         .         .         .         .        | 07.    g.87886
 GCTGAAAGTGTAACAGAGGGACCCACTGTAACTGAGGAGACAATAGCACAGACGGAG | GCA    c.900
 A  E  S  V  T  E  G  P  T  V  T  E  E  T  I  A  Q  T  E   | A      p.300

          .         .         .         .         .         .       g.87946
 AACATCGTTGATGATTTTCAAGAATACAACTATGGAACAATGGAAAGTTACCAGACAGAA       c.960
 N  I  V  D  D  F  Q  E  Y  N  Y  G  T  M  E  S  Y  Q  T  E         p.320

          .         .         . | 08       .         .         .    g.90530
 GCTCCTAGGCATGTTTCTGGGACAAATGAG | CCAAATCCAGTTGAAGAAATATTTACTGAA    c.1020
 A  P  R  H  V  S  G  T  N  E   | P  N  P  V  E  E  I  F  T  E      p.340

          .         .         .         .         .         .       g.90590
 GAATATCTAACGGGAGAGGATTATGATTCCCAGAGGAAAAATTCTGAGGATACACTATAT       c.1080
 E  Y  L  T  G  E  D  Y  D  S  Q  R  K  N  S  E  D  T  L  Y         p.360

          .         .         .         .         .         .       g.90650
 GAAAACAAAGAAATAGACGGCAGGGATTCTGATCTTCTGGTAGATGGAGATTTAGGCGAA       c.1140
 E  N  K  E  I  D  G  R  D  S  D  L  L  V  D  G  D  L  G  E         p.380

          .         .         .         .         .         .       g.90710
 TATGATTTTTATGAATATAAAGAATATGAAGATAAACCAACAAGCCCCCCTAATGAAGAA       c.1200
 Y  D  F  Y  E  Y  K  E  Y  E  D  K  P  T  S  P  P  N  E  E         p.400

          .         .         .         .      | 09  .         .    g.91742
 TTTGGTCCAGGTGTACCAGCAGAAACTGATATTACAGAAACAAGC | ATAAATGGCCATGGT    c.1260
 F  G  P  G  V  P  A  E  T  D  I  T  E  T  S   | I  N  G  H  G      p.420

          .         .         .         .         | 10         .    g.94649
 GCATATGGAGAGAAAGGACAGAAAGGAGAACCAGCAGTGGTTGAGCCT | GGTATGCTTGTC    c.1320
 A  Y  G  E  K  G  Q  K  G  E  P  A  V  V  E  P   | G  M  L  V      p.440

          .         .         . | 11       .         .         .    g.95644
 GAAGGACCACCAGGACCAGCAGGACCTGCA | GGTATTATGGGTCCTCCAGGTCTACAAGGC    c.1380
 E  G  P  P  G  P  A  G  P  A   | G  I  M  G  P  P  G  L  Q  G      p.460

          .         .         .    | 12    .         .         .    g.97781
 CCCACTGGACCCCCTGGTGACCCTGGCGATAGG | GGCCCCCCAGGACGTCCTGGCTTACCA    c.1440
 P  T  G  P  P  G  D  P  G  D  R   | G  P  P  G  R  P  G  L  P      p.480

          .         .         .         .         | 13         .    g.98914
 GGGGCTGATGGTCTACCTGGTCCTCCTGGTACTATGTTGATGTTACCG | TTCCGTTATGGT    c.1500
 G  A  D  G  L  P  G  P  P  G  T  M  L  M  L  P   | F  R  Y  G      p.500

          .         .         .         .         .         .       g.98974
 GGTGATGGTTCCAAAGGACCAACCATCTCTGCTCAGGAAGCTCAGGCTCAAGCTATTCTT       c.1560
 G  D  G  S  K  G  P  T  I  S  A  Q  E  A  Q  A  Q  A  I  L         p.520

          .   | 14     .         .         .         .         .    g.101075
 CAGCAGGCTCGG | ATTGCTCTGAGAGGCCCACCTGGCCCAATGGGTCTAACTGGAAGACCA    c.1620
 Q  Q  A  R   | I  A  L  R  G  P  P  G  P  M  G  L  T  G  R  P      p.540

           | 15        .         .         .         .         .    g.105031
 GGTCCTGTG | GGGGGGCCTGGTTCATCTGGGGCCAAAGGTGAGAGTGGTGATCCAGGTCCT    c.1680
 G  P  V   | G  G  P  G  S  S  G  A  K  G  E  S  G  D  P  G  P      p.560

     | 16    .         .         .         .         .        | 17. g.107378
 CAG | GGCCCTCGAGGCGTCCAGGGTCCCCCTGGTCCAACGGGAAAACCTGGAAAAAGG | GGT c.1740
 Q   | G  P  R  G  V  Q  G  P  P  G  P  T  G  K  P  G  K  R   | G   p.580

          .         .         .         .         .  | 18      .    g.107614
 CGTCCAGGTGCAGATGGAGGAAGAGGAATGCCAGGAGAACCTGGGGCAAAG | GGAGATCGA    c.1800
 R  P  G  A  D  G  G  R  G  M  P  G  E  P  G  A  K   | G  D  R      p.600

          .         .         .         .      | 19  .         .    g.108850
 GGGTTTGATGGACTTCCGGGTCTGCCAGGTGACAAAGGTCACAGG | GGTGAACGAGGTCCT    c.1860
 G  F  D  G  L  P  G  L  P  G  D  K  G  H  R   | G  E  R  G  P      p.620

          .         .         .          | 20        .         .    g.109029
 CAAGGTCCTCCAGGTCCTCCTGGTGATGATGGAATGAGG | GGAGAAGATGGAGAAATTGGA    c.1920
 Q  G  P  P  G  P  P  G  D  D  G  M  R   | G  E  D  G  E  I  G      p.640

          .         .     | 21   .         .         .         .    g.110264
 CCAAGAGGTCTTCCAGGTGAAGCT | GGCCCACGAGGTTTGCTGGGTCCAAGGGGAACTCCA    c.1980
 P  R  G  L  P  G  E  A   | G  P  R  G  L  L  G  P  R  G  T  P      p.660

          .         | 22         .         .         .         .    g.110747
 GGAGCTCCAGGGCAGCCT | GGTATGGCAGGTGTAGATGGCCCCCCAGGACCAAAAGGGAAC    c.2040
 G  A  P  G  Q  P   | G  M  A  G  V  D  G  P  P  G  P  K  G  N      p.680

     | 23    .         .         .         .         .        | 24. g.111530
 ATG | GGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAG | GGT c.2100
 M   | G  P  Q  G  E  P  G  P  P  G  Q  Q  G  N  P  G  P  Q   | G   p.700

          .         .         .         .   | 25     .         .    g.115151
 CTTCCTGGTCCACAAGGTCCAATTGGTCCTCCTGGTGAAAAA | GGACCACAAGGAAAACCA    c.2160
 L  P  G  P  Q  G  P  I  G  P  P  G  E  K   | G  P  Q  G  K  P      p.720

          .         .         .       | 26 .         .         .    g.116396
 GGACTTGCTGGACTTCCTGGTGCTGATGGGCCTCCT | GGTCATCCTGGGAAAGAAGGCCAG    c.2220
 G  L  A  G  L  P  G  A  D  G  P  P   | G  H  P  G  K  E  G  Q      p.740

          .         .  | 27      .         .         .         .    g.117493
 TCTGGAGAAAAGGGGGCTCTG | GGTCCCCCTGGTCCACAAGGTCCTATTGGATACCCGGGC    c.2280
 S  G  E  K  G  A  L   | G  P  P  G  P  Q  G  P  I  G  Y  P  G      p.760

          .      | 28  .         .         .         .         .    g.117633
 CCCCGGGGAGTAAAG | GGAGCAGATGGTGTCAGAGGTCTCAAGGGATCTAAAGGTGAAAAG    c.2340
 P  R  G  V  K   | G  A  D  G  V  R  G  L  K  G  S  K  G  E  K      p.780

  | 29       .         .         .         .         .     | 30   . g.125762
  | GGTGAAGATGGTTTTCCAGGATTCAAAGGTGACATGGGTCTAAAAGGTGACAGA | GGAGAA c.2400
  | G  E  D  G  F  P  G  F  K  G  D  M  G  L  K  G  D  R   | G  E   p.800

          .         .         .         .         .         .       g.125822
 GTTGGTCAAATTGGCCCAAGAGGGGAAGATGGCCCTGAAGGACCCAAAGGTCGAGCAGGC       c.2460
 V  G  Q  I  G  P  R  G  E  D  G  P  E  G  P  K  G  R  A  G         p.820

          .         .         .         .   | 31     .         .    g.129323
 CCAACTGGAGACCCAGGTCCTTCAGGTCAAGCAGGAGAAAAG | GGAAAACTTGGAGTTCCA    c.2520
 P  T  G  D  P  G  P  S  G  Q  A  G  E  K   | G  K  L  G  V  P      p.840

          .         .         .       | 32 .         .         .    g.134085
 GGATTACCAGGATATCCAGGAAGACAAGGTCCAAAG | GGTTCCACTGGATTCCCTGGGTTT    c.2580
 G  L  P  G  Y  P  G  R  Q  G  P  K   | G  S  T  G  F  P  G  F      p.860

          .         .         . | 33       .         .         .    g.134422
 CCAGGTGCCAATGGAGAGAAAGGTGCACGG | GGAGTAGCTGGCAAACCAGGCCCTCGGGGT    c.2640
 P  G  A  N  G  E  K  G  A  R   | G  V  A  G  K  P  G  P  R  G      p.880

          .      | 34  .         .         .         .         .    g.134628
 CAGCGTGGTCCAACG | GGTCCTCGAGGTTCAAGAGGTGCAAGAGGTCCCACTGGGAAACCT    c.2700
 Q  R  G  P  T   | G  P  R  G  S  R  G  A  R  G  P  T  G  K  P      p.900

           | 35        .         .         .         .     | 36   . g.138619
 GGGCCAAAG | GGCACTTCAGGTGGCGATGGCCCTCCTGGCCCTCCAGGTGAAAGA | GGTCCT c.2760
 G  P  K   | G  T  S  G  G  D  G  P  P  G  P  P  G  E  R   | G  P   p.920

          .         .         .         .         | 37         .    g.143236
 CAAGGACCTCAGGGTCCAGTTGGATTCCCTGGACCAAAAGGCCCTCCT | GGACCACCTGGG    c.2820
 Q  G  P  Q  G  P  V  G  F  P  G  P  K  G  P  P   | G  P  P  G      p.940

          .         .         .         .   | 38     .         .    g.147974
 AAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACT | GGATTTCAAGGCAAGACC    c.2880
 K  D  G  L  P  G  H  P  G  Q  R  G  E  T   | G  F  Q  G  K  T      p.960

          .         .         .       | 39 .         .         .    g.150760
 GGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAG | GGACCAACCGGTGAGACTGGTCCA    c.2940
 G  P  P  G  P  G  G  V  V  G  P  Q   | G  P  T  G  E  T  G  P      p.980

          .         .         .         .         .         .       g.150820
 ATAGGGGAACGTGGGCATCCTGGCCCTCCTGGCCCTCCTGGTGAGCAAGGTCTTCCTGGT       c.3000
 I  G  E  R  G  H  P  G  P  P  G  P  P  G  E  Q  G  L  P  G         p.1000

          .         .     | 40   .         .         .         .    g.151267
 GCTGCAGGAAAAGAAGGTGCAAAG | GGTGATCCAGGTCCTCAAGGTATCTCAGGGAAAGAT    c.3060
 A  A  G  K  E  G  A  K   | G  D  P  G  P  Q  G  I  S  G  K  D      p.1020

          .         .         .         .         .     | 41   .    g.151583
 GGACCAGCAGGATTACGTGGTTTCCCAGGGGAAAGAGGTCTTCCTGGAGCTCAG | GGTGCA    c.3120
 G  P  A  G  L  R  G  F  P  G  E  R  G  L  P  G  A  Q   | G  A      p.1040

          .         .         .         .         | 42         .    g.166552
 CCTGGACTGAAAGGAGGGGAAGGTCCCCAGGGCCCACCAGGTCCAGTT | GGCTCACCAGGA    c.3180
 P  G  L  K  G  G  E  G  P  Q  G  P  P  G  P  V   | G  S  P  G      p.1060

          .         .         .         .         .         .       g.166612
 GAACGTGGGTCAGCAGGTACAGCTGGCCCAATTGGTTTACCAGGGCGCCCGGGACCTCAG       c.3240
 E  R  G  S  A  G  T  A  G  P  I  G  L  P  G  R  P  G  P  Q         p.1080

          .         .         .       | 43 .         .         .    g.173086
 GGTCCTCCTGGTCCAGCTGGAGAGAAAGGTGCTCCT | GGAGAAAAAGGTCCCCAAGGGCCT    c.3300
 G  P  P  G  P  A  G  E  K  G  A  P   | G  E  K  G  P  Q  G  P      p.1100

          .         .         .         .         .         .       g.173146
 GCAGGGAGAGATGGAGTTCAAGGTCCTGTTGGTCTCCCAGGGCCAGCTGGTCCTGCCGGC       c.3360
 A  G  R  D  G  V  Q  G  P  V  G  L  P  G  P  A  G  P  A  G         p.1120

          .         .     | 44   .         .         .         .    g.174444
 TCCCCTGGGGAAGACGGAGACAAG | GGTGAAATTGGTGAGCCGGGACAAAAAGGCAGCAAG    c.3420
 S  P  G  E  D  G  D  K   | G  E  I  G  E  P  G  Q  K  G  S  K      p.1140

          .         | 45         .         .         .         .    g.178425
 GGTGACAAGGGAGAAAAT | GGCCCTCCCGGTCCCCCAGGTCTTCAAGGACCAGTTGGTGCC    c.3480
 G  D  K  G  E  N   | G  P  P  G  P  P  G  L  Q  G  P  V  G  A      p.1160

          .   | 46     .         .         .         .         .    g.178988
 CCTGGAATTGCT | GGAGGTGATGGTGAACCAGGTCCTAGAGGACAGCAGGGGATGTTTGGG    c.3540
 P  G  I  A   | G  G  D  G  E  P  G  P  R  G  Q  Q  G  M  F  G      p.1180

          .         .         .         .         .         .       g.179048
 CAAAAAGGTGATGAGGGTGCCAGAGGCTTCCCTGGACCTCCTGGTCCAATAGGTCTTCAG       c.3600
 Q  K  G  D  E  G  A  R  G  F  P  G  P  P  G  P  I  G  L  Q         p.1200

  | 47       .         .         .         .         .     | 48   . g.191931
  | GGTCTGCCAGGCCCACCTGGTGAAAAAGGTGAAAATGGGGATGTTGGTCCCATG | GGGCCA c.3660
  | G  L  P  G  P  P  G  E  K  G  E  N  G  D  V  G  P  M   | G  P   p.1220

          .         .         .         .         | 49         .    g.193144
 CCTGGTCCTCCAGGCCCAAGAGGCCCTCAAGGTCCCAATGGAGCTGAT | GGACCACAAGGA    c.3720
 P  G  P  P  G  P  R  G  P  Q  G  P  N  G  A  D   | G  P  Q  G      p.1240

          .         .         .         .   | 50     .         .    g.197830
 CCCCCAGGGTCTGTTGGTTCAGTTGGTGGTGTTGGAGAAAAG | GGTGAACCTGGAGAAGCA    c.3780
 P  P  G  S  V  G  S  V  G  G  V  G  E  K   | G  E  P  G  E  A      p.1260

          .         .         .       | 51 .         .         .    g.198709
 GGGAACCCAGGGCCTCCTGGGGAAGCAGGTGTAGGC | GGTCCCAAAGGAGAAAGAGGAGAG    c.3840
 G  N  P  G  P  P  G  E  A  G  V  G   | G  P  K  G  E  R  G  E      p.1280

          .         .         .         .         .         .       g.198769
 AAAGGGGAAGCTGGTCCACCTGGAGCTGCTGGACCTCCAGGTGCCAAGGGGCCACCAGGT       c.3900
 K  G  E  A  G  P  P  G  A  A  G  P  P  G  A  K  G  P  P  G         p.1300

          .         .     | 52   .         .         .         .    g.199127
 GATGATGGCCCTAAGGGTAACCCG | GGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCT    c.3960
 D  D  G  P  K  G  N  P   | G  P  V  G  F  P  G  D  P  G  P  P      p.1320

          .         | 53         .         .         .         .    g.199848
 GGGGAACCTGGCCCTGCA | GGTCAAGATGGTGTTGGTGGTGACAAGGGTGAAGATGGAGAT    c.4020
 G  E  P  G  P  A   | G  Q  D  G  V  G  G  D  K  G  E  D  G  D      p.1340

          .   | 54     .         .         .         .         .    g.201332
 CCTGGTCAACCG | GGTCCTCCTGGCCCATCTGGTGAGGCTGGCCCACCAGGTCCTCCTGGA    c.4080
 P  G  Q  P   | G  P  P  G  P  S  G  E  A  G  P  P  G  P  P  G      p.1360

        | 55 .         .         .         .         .         .    g.214556
 AAACGA | GGTCCTCCTGGAGCTGCAGGTGCAGAGGGAAGACAAGGTGAAAAAGGTGCTAAG    c.4140
 K  R   | G  P  P  G  A  A  G  A  E  G  R  Q  G  E  K  G  A  K      p.1380

  | 56       .         .         .         .         .         .    g.214783
  | GGGGAAGCAGGTGCAGAAGGTCCTCCTGGAAAAACCGGCCCAGTCGGTCCTCAGGGACCT    c.4200
  | G  E  A  G  A  E  G  P  P  G  K  T  G  P  V  G  P  Q  G  P      p.1400

          .         .         .         .         | 57         .    g.215330
 GCAGGAAAGCCTGGTCCAGAAGGTCTTCGGGGCATCCCTGGTCCTGTG | GGAGAACAAGGT    c.4260
 A  G  K  P  G  P  E  G  L  R  G  I  P  G  P  V   | G  E  Q  G      p.1420

          .         .         .         .   | 58     .         .    g.223010
 CTCCCTGGAGCTGCAGGCCAAGATGGACCACCTGGTCCTATG | GGACCTCCTGGCTTACCT    c.4320
 L  P  G  A  A  G  Q  D  G  P  P  G  P  M   | G  P  P  G  L  P      p.1440

          .         .         .       | 59 .         .         .    g.223958
 GGTCTCAAAGGTGACCCTGGCTCCAAGGGTGAAAAG | GGACATCCTGGTTTAATTGGCCTG    c.4380
 G  L  K  G  D  P  G  S  K  G  E  K   | G  H  P  G  L  I  G  L      p.1460

          .         .         .         .         .         .       g.224018
 ATTGGTCCTCCAGGAGAACAAGGGGAAAAAGGTGACCGAGGGCTCCCTGGAACTCAAGGA       c.4440
 I  G  P  P  G  E  Q  G  E  K  G  D  R  G  L  P  G  T  Q  G         p.1480

          .         .     | 60   .         .         .         .    g.224613
 TCTCCAGGAGCAAAAGGGGATGGG | GGAATTCCTGGTCCTGCTGGTCCCTTAGGTCCACCT    c.4500
 S  P  G  A  K  G  D  G   | G  I  P  G  P  A  G  P  L  G  P  P      p.1500

          .         | 61         .         .         .     | 62   . g.224872
 GGTCCTCCAGGTTTACCA | GGTCCTCAAGGCCCAAAGGGTAACAAAGGCTCTACT | GGACCC c.4560
 G  P  P  G  L  P   | G  P  Q  G  P  K  G  N  K  G  S  T   | G  P   p.1520

          .         .         .         .         | 63         .    g.226452
 GCTGGCCAGAAAGGTGACAGTGGTCTTCCAGGGCCTCCTGGGTCTCCA | GGTCCACCTGGT    c.4620
 A  G  Q  K  G  D  S  G  L  P  G  P  P  G  S  P   | G  P  P  G      p.1540

          .         .         .         .         .         .       g.226512
 GAAGTCATTCAGCCTTTACCAATCTTGTCCTCCAAAAAAACGAGAAGACATACTGAAGGC       c.4680
 E  V  I  Q  P  L  P  I  L  S  S  K  K  T  R  R  H  T  E  G         p.1560

          .         .         .         .         .         .       g.226572
 ATGCAAGCAGATGCAGATGATAATATTCTTGATTACTCGGATGGAATGGAAGAAATATTT       c.4740
 M  Q  A  D  A  D  D  N  I  L  D  Y  S  D  G  M  E  E  I  F         p.1580

          .         .         .         .         .         .       g.226632
 GGTTCCCTCAATTCCCTGAAACAAGACATTGAGCATATGAAATTTCCAATGGGTACTCAG       c.4800
 G  S  L  N  S  L  K  Q  D  I  E  H  M  K  F  P  M  G  T  Q         p.1600

          .         .         .         .         .         | 64    g.230187
 ACCAATCCAGCCCGAACTTGTAAAGACCTGCAACTCAGCCATCCTGACTTCCCAGATG | GT    c.4860
 T  N  P  A  R  T  C  K  D  L  Q  L  S  H  P  D  F  P  D  G |       p.1620

          .         .         .         .         .         .       g.230247
 GAATATTGGATTGATCCTAACCAAGGTTGCTCAGGAGATTCCTTCAAAGTTTACTGTAAT       c.4920
 E  Y  W  I  D  P  N  Q  G  C  S  G  D  S  F  K  V  Y  C  N         p.1640

          .         .         .         .         .  | 65      .    g.231740
 TTCACATCTGGTGGTGAGACTTGCATTTATCCAGACAAAAAATCTGAGGGA | GTAAGAATT    c.4980
 F  T  S  G  G  E  T  C  I  Y  P  D  K  K  S  E  G   | V  R  I      p.1660

          .         .         .         .         .         .       g.231800
 TCATCATGGCCAAAGGAGAAACCAGGAAGTTGGTTTAGTGAATTTAAGAGGGGAAAACTG       c.5040
 S  S  W  P  K  E  K  P  G  S  W  F  S  E  F  K  R  G  K  L         p.1680

  | 66       .         .         .         .         .         .    g.233640
  | CTTTCATACTTAGATGTTGAAGGAAATTCCATCAATATGGTGCAAATGACATTCCTGAAA    c.5100
  | L  S  Y  L  D  V  E  G  N  S  I  N  M  V  Q  M  T  F  L  K      p.1700

          .         .         .         .         .         .       g.233700
 CTTCTGACTGCCTCTGCTCGGCAAAATTTCACCTACCACTGTCATCAGTCAGCAGCCTGG       c.5160
 L  L  T  A  S  A  R  Q  N  F  T  Y  H  C  H  Q  S  A  A  W         p.1720

          .         .         .         .         .         .       g.233760
 TATGATGTGTCATCAGGAAGTTATGACAAAGCACTTCGCTTCCTGGGATCAAATGATGAG       c.5220
 Y  D  V  S  S  G  S  Y  D  K  A  L  R  F  L  G  S  N  D  E         p.1740

          .         .         .         .         .     | 67   .    g.235337
 GAGATGTCCTATGACAATAATCCTTTTATCAAAACACTGTATGATGGTTGTGCG | TCCAGA    c.5280
 E  M  S  Y  D  N  N  P  F  I  K  T  L  Y  D  G  C  A   | S  R      p.1760

          .         .         .         .         .         .       g.235397
 AAAGGCTATGAAAAGACTGTCATTGAAATCAATACACCAAAAATTGATCAAGTACCTATT       c.5340
 K  G  Y  E  K  T  V  I  E  I  N  T  P  K  I  D  Q  V  P  I         p.1780

          .         .         .         .         .         .       g.235457
 GTTGATGTCATGATCAATGACTTTGGTGATCAGAATCAGAAGTTCGGATTTGAAGTTGGT       c.5400
 V  D  V  M  I  N  D  F  G  D  Q  N  Q  K  F  G  F  E  V  G         p.1800

          .         .                                               g.235478
 CCTGTTTGTTTTCTTGGCTAA                                              c.5421
 P  V  C  F  L  G  X                                                p.1806

          .         .         .         .         .         .       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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