(used for variant description)
(last modified July 11, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_021870.2 in the FGG gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008834.1, covering FGG transcript NM_021870.2.
 (upstream sequence)
                                         .         .                g.5021
                                        cttctggtaaggaggccccgt       c.-121
 .         .         .         .         .         .                g.5081
 gatcagctccagccatttgcagtcctggctatcccaggagcttacataaagggacaattg       c.-61
 .         .         .         .         .         .                g.5141
 gagcctgagaggtgacagtgctgacactacaaggctcggagctccgggcactcagacatc       c.-1
          .         .         .         .         .         .       g.5201
 ATGAGTTGGTCCTTGCACCCCCGGAATTTAATTCTCTACTTCTATGCTCTTTTATTTCTC       c.60
 M  S  W  S  L  H  P  R  N  L  I  L  Y  F  Y  A  L  L  F  L         p.20
          .         | 02         .         .         .         .    g.5357
 TCTTCAACATGTGTAGCA | TATGTTGCTACCAGAGACAACTGCTGCATCTTAGATGAAAGA    c.120
 S  S  T  C  V  A   | Y  V  A  T  R  D  N  C  C  I  L  D  E  R      p.40
     | 03    .         .         .         .         .         .    g.5606
 TTC | GGTAGTTATTGTCCAACTACCTGTGGCATTGCAGATTTCCTGTCTACTTATCAAACC    c.180
 F   | G  S  Y  C  P  T  T  C  G  I  A  D  F  L  S  T  Y  Q  T      p.60
          .         .         .         .         .         .       g.5666
 AAAGTAGACAAGGATCTACAGTCTTTGGAAGACATCTTACATCAAGTTGAAAACAAAACA       c.240
 K  V  D  K  D  L  Q  S  L  E  D  I  L  H  Q  V  E  N  K  T         p.80
          .         .         .         .         .         .       g.5726
 TCAGAAGTCAAACAGCTGATAAAAGCAATCCAACTCACTTATAATCCTGATGAATCATCA       c.300
 S  E  V  K  Q  L  I  K  A  I  Q  L  T  Y  N  P  D  E  S  S         p.100
         | 04.         .         .         .         .         .    g.5905
 AAACCAA | ATATGATAGACGCTGCTACTTTGAAGTCCAGGAAAATGTTAGAAGAAATTATG    c.360
 K  P  N |   M  I  D  A  A  T  L  K  S  R  K  M  L  E  E  I  M      p.120
          .         .         .         .  | 05      .         .    g.7572
 AAATATGAAGCATCGATTTTAACACATGACTCAAGTATTCG | ATATTTGCAGGAAATATAT    c.420
 K  Y  E  A  S  I  L  T  H  D  S  S  I  R  |  Y  L  Q  E  I  Y      p.140
          .         .         .         .         .         .       g.7632
 AATTCAAATAATCAAAAGATTGTTAACCTGAAAGAGAAGGTAGCCCAGCTTGAAGCACAG       c.480
 N  S  N  N  Q  K  I  V  N  L  K  E  K  V  A  Q  L  E  A  Q         p.160
          .         .         .         .         .   | 06     .    g.7995
 TGCCAGGAACCTTGCAAAGACACGGTGCAAATCCATGATATCACTGGGAAAG | ATTGTCAA    c.540
 C  Q  E  P  C  K  D  T  V  Q  I  H  D  I  T  G  K  D |   C  Q      p.180
          .         .         .         .         .         .       g.8055
 GACATTGCCAATAAGGGAGCTAAACAGAGCGGGCTTTACTTTATTAAACCTCTGAAAGCT       c.600
 D  I  A  N  K  G  A  K  Q  S  G  L  Y  F  I  K  P  L  K  A         p.200
          .         .         .         .         .         .       g.8115
 AACCAGCAATTCTTAGTCTACTGTGAAATCGATGGGTCTGGAAATGGATGGACTGTGTTT       c.660
 N  Q  Q  F  L  V  Y  C  E  I  D  G  S  G  N  G  W  T  V  F         p.220
        | 07 .         .         .         .         .         .    g.9154
 CAGAAG | AGACTTGATGGCAGTGTAGATTTCAAGAAAAACTGGATTCAATATAAAGAAGGA    c.720
 Q  K   | R  L  D  G  S  V  D  F  K  K  N  W  I  Q  Y  K  E  G      p.240
          .         .         .         .         .         .       g.9214
 TTTGGACATCTGTCTCCTACTGGCACAACAGAATTTTGGCTGGGAAATGAGAAGATTCAT       c.780
 F  G  H  L  S  P  T  G  T  T  E  F  W  L  G  N  E  K  I  H         p.260
          .         .         .         .         .         .       g.9274
 TTGATAAGCACACAGTCTGCCATCCCATATGCATTAAGAGTGGAACTGGAAGACTGGAAT       c.840
 L  I  S  T  Q  S  A  I  P  Y  A  L  R  V  E  L  E  D  W  N         p.280
          .  | 08      .         .         .         .         .    g.10817
 GGCAGAACCAG | TACTGCAGACTATGCCATGTTCAAGGTGGGACCTGAAGCTGACAAGTAC    c.900
 G  R  T  S  |  T  A  D  Y  A  M  F  K  V  G  P  E  A  D  K  Y      p.300
          .         .         .         .         .         .       g.10877
 CGCCTAACATATGCCTACTTCGCTGGTGGGGATGCTGGAGATGCCTTTGATGGCTTTGAT       c.960
 R  L  T  Y  A  Y  F  A  G  G  D  A  G  D  A  F  D  G  F  D         p.320
          .         .         .         .         .         .       g.10937
 TTTGGCGATGATCCTAGTGACAAGTTTTTCACATCCCATAATGGCATGCAGTTCAGTACC       c.1020
 F  G  D  D  P  S  D  K  F  F  T  S  H  N  G  M  Q  F  S  T         p.340
          .         .         .         .         .         .       g.10997
 TGGGACAATGACAATGATAAGTTTGAAGGCAACTGTGCTGAACAGGATGGATCTGGTTGG       c.1080
 W  D  N  D  N  D  K  F  E  G  N  C  A  E  Q  D  G  S  G  W         p.360
          .         .         .         .          | 09        .    g.12695
 TGGATGAACAAGTGTCACGCTGGCCATCTCAATGGAGTTTATTACCAAG | GTGGCACTTAC    c.1140
 W  M  N  K  C  H  A  G  H  L  N  G  V  Y  Y  Q  G |   G  T  Y      p.380
          .         .         .         .         .         .       g.12755
 TCAAAAGCATCTACTCCTAATGGTTATGATAATGGCATTATTTGGGCCACTTGGAAAACC       c.1200
 S  K  A  S  T  P  N  G  Y  D  N  G  I  I  W  A  T  W  K  T         p.400
          .         .         .         .         .         .       g.12815
 CGGTGGTATTCCATGAAGAAAACCACTATGAAGATAATCCCATTCAACAGACTCACAATT       c.1260
 R  W  Y  S  M  K  K  T  T  M  K  I  I  P  F  N  R  L  T  I         p.420
          .         .         .         .         .         .       g.12875
 GGAGAAGGACAGCAACACCACCTGGGGGGAGCCAAACAGGTCAGACCAGAGCACCCTGCG       c.1320
 G  E  G  Q  Q  H  H  L  G  G  A  K  Q  V  R  P  E  H  P  A         p.440
          .         .         .         .                           g.12917
 GAAACAGAATATGACTCACTTTACCCTGAGGATGATTTGTAG                         c.1362
 E  T  E  Y  D  S  L  Y  P  E  D  D  L  X                           p.453
          .         .         .         .         .         .       g.12977
 aaaattaactgctaacttctattgacccacaaagtttcagaaattctctgaaagtttctt       c.*60
          .         .         .         .         .         .       g.13037
 ccttttttctcttactatatttattgatttcaagtcttctattaaggacatttagccttc       c.*120
          .         .         .         .         .         .       g.13097
 aatggaaattaaaactcatttaggactgtatttccaaattactgatatcagagttattta       c.*180
          .         .         .         .         .         .       g.13157
 aaaattgtttatttgaggagataacatttcaactttgttcctaaatatataataataaaa       c.*240
          .                                                         g.13175
 tgattgactttatttgca                                                 c.*258
 (downstream sequence)
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