notch 1 (NOTCH1) - coding DNA reference sequence

(used for variant description)

(last modified May 19, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_017617.3 in the NOTCH1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007458.1, covering NOTCH1 transcript NM_017617.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
          .         .         .         .         .         .       g.60
 ATGCCGCCGCTCCTGGCGCCCCTGCTCTGCCTGGCGCTGCTGCCCGCGCTCGCCGCACGA       c.60
 M  P  P  L  L  A  P  L  L  C  L  A  L  L  P  A  L  A  A  R         p.20

   | 02      .         .         .         .         .         .    g.1743
 G | GCCCGCGATGCTCCCAGCCCGGTGAGACCTGCCTGAATGGCGGGAAGTGTGAAGCGGCC    c.120
 G |   P  R  C  S  Q  P  G  E  T  C  L  N  G  G  K  C  E  A  A      p.40

          .         . | 03       .         .         .         .    g.21847
 AATGGCACGGAGGCCTGCGT | CTGTGGCGGGGCCTTCGTGGGCCCGCGATGCCAGGACCCC    c.180
 N  G  T  E  A  C  V  |  C  G  G  A  F  V  G  P  R  C  Q  D  P      p.60

          .         .         .         .         .         .       g.21907
 AACCCGTGCCTCAGCACCCCCTGCAAGAACGCCGGGACATGCCACGTGGTGGACCGCAGA       c.240
 N  P  C  L  S  T  P  C  K  N  A  G  T  C  H  V  V  D  R  R         p.80

          .         .         .         .         .         .       g.21967
 GGCGTGGCAGACTATGCCTGCAGCTGTGCCCTGGGCTTCTCTGGGCCCCTCTGCCTGACA       c.300
 G  V  A  D  Y  A  C  S  C  A  L  G  F  S  G  P  L  C  L  T         p.100

          .         .         .         .         .         .       g.22027
 CCCCTGGACAATGCCTGCCTCACCAACCCCTGCCGCAACGGGGGCACCTGCGACCTGCTC       c.360
 P  L  D  N  A  C  L  T  N  P  C  R  N  G  G  T  C  D  L  L         p.120

          .         .         .         .    | 04    .         .    g.22615
 ACGCTGACGGAGTACAAGTGCCGCTGCCCGCCCGGCTGGTCAG | GGAAATCGTGCCAGCAG    c.420
 T  L  T  E  Y  K  C  R  C  P  P  G  W  S  G |   K  S  C  Q  Q      p.140

          .         .         .         .         .         .       g.22675
 GCTGACCCGTGCGCCTCCAACCCCTGCGCCAACGGTGGCCAGTGCCTGCCCTTCGAGGCC       c.480
 A  D  P  C  A  S  N  P  C  A  N  G  G  Q  C  L  P  F  E  A         p.160

          .         .         .         .         .         .       g.22735
 TCCTACATCTGCCACTGCCCACCCAGCTTCCATGGCCCCACCTGCCGGCAGGATGTCAAC       c.540
 S  Y  I  C  H  C  P  P  S  F  H  G  P  T  C  R  Q  D  V  N         p.180

          .         .         .         .         .         .       g.22795
 GAGTGTGGCCAGAAGCCCGGGCTTTGCCGCCACGGAGGCACCTGCCACAACGAGGTCGGC       c.600
 E  C  G  Q  K  P  G  L  C  R  H  G  G  T  C  H  N  E  V  G         p.200

          .         .         .         .         .         .       g.22855
 TCCTACCGCTGCGTCTGCCGCGCCACCCACACTGGCCCCAACTGCGAGCGGCCCTACGTG       c.660
 S  Y  R  C  V  C  R  A  T  H  T  G  P  N  C  E  R  P  Y  V         p.220

          .         .         .         .         .         .       g.22915
 CCCTGCAGCCCCTCGCCCTGCCAGAACGGGGGCACCTGCCGCCCCACGGGCGACGTCACC       c.720
 P  C  S  P  S  P  C  Q  N  G  G  T  C  R  P  T  G  D  V  T         p.240

          .         .   | 05     .         .         .         .    g.26259
 CACGAGTGTGCCTGCCTGCCAG | GCTTCACCGGCCAGAACTGTGAGGAAAATATCGACGAT    c.780
 H  E  C  A  C  L  P  G |   F  T  G  Q  N  C  E  E  N  I  D  D      p.260

          .         .         .         .         .         .       g.26319
 TGTCCAGGAAACAACTGCAAGAACGGGGGTGCCTGTGTGGACGGCGTGAACACCTACAAC       c.840
 C  P  G  N  N  C  K  N  G  G  A  C  V  D  G  V  N  T  Y  N         p.280

          .         .      | 06  .         .         .         .    g.26997
 TGCCGCTGCCCGCCAGAGTGGACAG | GTCAGTACTGTACCGAGGATGTGGACGAGTGCCAG    c.900
 C  R  C  P  P  E  W  T  G |   Q  Y  C  T  E  D  V  D  E  C  Q      p.300

          .         .         .         .         .         .       g.27057
 CTGATGCCAAATGCCTGCCAGAACGGCGGGACCTGCCACAACACCCACGGTGGCTACAAC       c.960
 L  M  P  N  A  C  Q  N  G  G  T  C  H  N  T  H  G  G  Y  N         p.320

          .         .         .         .         .         .       g.27117
 TGCGTGTGTGTCAACGGCTGGACTGGTGAGGACTGCAGCGAGAACATTGATGACTGTGCC       c.1020
 C  V  C  V  N  G  W  T  G  E  D  C  S  E  N  I  D  D  C  A         p.340

          .         .         .         .         .         .       g.27177
 AGCGCCGCCTGCTTCCACGGCGCCACCTGCCATGACCGTGTGGCCTCCTTCTACTGCGAG       c.1080
 S  A  A  C  F  H  G  A  T  C  H  D  R  V  A  S  F  Y  C  E         p.360

          .          | 07        .         .         .         .    g.27535
 TGTCCCCATGGCCGCACAG | GTCTGCTGTGCCACCTCAACGACGCATGCATCAGCAACCCC    c.1140
 C  P  H  G  R  T  G |   L  L  C  H  L  N  D  A  C  I  S  N  P      p.380

          .         .         .         .         .         .       g.27595
 TGTAACGAGGGCTCCAACTGCGACACCAACCCTGTCAATGGCAAGGCCATCTGCACCTGC       c.1200
 C  N  E  G  S  N  C  D  T  N  P  V  N  G  K  A  I  C  T  C         p.400

          .         .         .         .         .      | 08  .    g.27854
 CCCTCGGGGTACACGGGCCCGGCCTGCAGCCAGGACGTGGATGAGTGCTCGCTGG | GTGCC    c.1260
 P  S  G  Y  T  G  P  A  C  S  Q  D  V  D  E  C  S  L  G |   A      p.420

          .         .         .         .         .         .       g.27914
 AACCCCTGCGAGCATGCGGGCAAGTGCATCAACACGCTGGGCTCCTTCGAGTGCCAGTGT       c.1320
 N  P  C  E  H  A  G  K  C  I  N  T  L  G  S  F  E  C  Q  C         p.440

          .         .         .         .         .         .       g.27974
 CTGCAGGGCTACACGGGCCCCCGATGCGAGATCGACGTCAACGAGTGCGTCTCGAACCCG       c.1380
 L  Q  G  Y  T  G  P  R  C  E  I  D  V  N  E  C  V  S  N  P         p.460

          .         .         .         .         .         .       g.28034
 TGCCAGAACGACGCCACCTGCCTGGACCAGATTGGGGAGTTCCAGTGCATCTGCATGCCC       c.1440
 C  Q  N  D  A  T  C  L  D  Q  I  G  E  F  Q  C  I  C  M  P         p.480

   | 09      .         .         .         .         .         .    g.28460
 G | GCTACGAGGGTGTGCACTGCGAGGTCAACACAGACGAGTGTGCCAGCAGCCCCTGCCTG    c.1500
 G |   Y  E  G  V  H  C  E  V  N  T  D  E  C  A  S  S  P  C  L      p.500

          .         .         .         .         .      | 10  .    g.29697
 CACAATGGCCGCTGCCTGGACAAGATCAATGAGTTCCAGTGCGAGTGCCCCACGG | GCTTC    c.1560
 H  N  G  R  C  L  D  K  I  N  E  F  Q  C  E  C  P  T  G |   F      p.520

          .         .         .         .         .         .       g.29757
 ACTGGGCATCTGTGCCAGTACGATGTGGACGAGTGTGCCAGCACCCCCTGCAAGAATGGT       c.1620
 T  G  H  L  C  Q  Y  D  V  D  E  C  A  S  T  P  C  K  N  G         p.540

          .         .         .         .          | 11        .    g.30081
 GCCAAGTGCCTGGACGGACCCAACACTTACACCTGTGTGTGCACGGAAG | GGTACACGGGG    c.1680
 A  K  C  L  D  G  P  N  T  Y  T  C  V  C  T  E  G |   Y  T  G      p.560

          .         .         .         .         .         .       g.30141
 ACGCACTGCGAGGTGGACATCGATGAGTGCGACCCCGACCCCTGCCACTACGGCTCCTGC       c.1740
 T  H  C  E  V  D  I  D  E  C  D  P  D  P  C  H  Y  G  S  C         p.580

          .         .         .         .         .         .       g.30201
 AAGGACGGCGTCGCCACCTTCACCTGCCTCTGCCGCCCAGGCTACACGGGCCACCACTGC       c.1800
 K  D  G  V  A  T  F  T  C  L  C  R  P  G  Y  T  G  H  H  C         p.600

          .         .         .         .         .         .       g.30261
 GAGACCAACATCAACGAGTGCTCCAGCCAGCCCTGCCGCCACGGGGGCACCTGCCAGGAC       c.1860
 E  T  N  I  N  E  C  S  S  Q  P  C  R  H  G  G  T  C  Q  D         p.620

          .         .         .         .    | 12    .         .    g.30403
 CGCGACAACGCCTACCTCTGCTTCTGCCTGAAGGGGACCACAG | GACCCAACTGCGAGATC    c.1920
 R  D  N  A  Y  L  C  F  C  L  K  G  T  T  G |   P  N  C  E  I      p.640

          .         .         .         .         .         .       g.30463
 AACCTGGATGACTGTGCCAGCAGCCCCTGCGACTCGGGCACCTGTCTGGACAAGATCGAT       c.1980
 N  L  D  D  C  A  S  S  P  C  D  S  G  T  C  L  D  K  I  D         p.660

          .         .         .     | 13   .         .         .    g.31110
 GGCTACGAGTGTGCCTGTGAGCCGGGCTACACAG | GGAGCATGTGTAACATCAACATCGAT    c.2040
 G  Y  E  C  A  C  E  P  G  Y  T  G |   S  M  C  N  I  N  I  D      p.680

          .         .         .         .         .         .       g.31170
 GAGTGTGCGGGCAACCCCTGCCACAACGGGGGCACCTGCGAGGACGGCATCAATGGCTTC       c.2100
 E  C  A  G  N  P  C  H  N  G  G  T  C  E  D  G  I  N  G  F         p.700

          .         .         .         .         .         .       g.31230
 ACCTGCCGCTGCCCCGAGGGCTACCACGACCCCACCTGCCTGTCTGAGGTCAATGAGTGC       c.2160
 T  C  R  C  P  E  G  Y  H  D  P  T  C  L  S  E  V  N  E  C         p.720

          .         .         .         .        | 14.         .    g.32262
 AACAGCAACCCCTGCGTCCACGGGGCCTGCCGGGACAGCCTCAACGG | GTACAAGTGCGAC    c.2220
 N  S  N  P  C  V  H  G  A  C  R  D  S  L  N  G  |  Y  K  C  D      p.740

          .         .         .         .         .         .       g.32322
 TGTGACCCTGGGTGGAGTGGGACCAACTGTGACATCAACAACAATGAGTGTGAATCCAAC       c.2280
 C  D  P  G  W  S  G  T  N  C  D  I  N  N  N  E  C  E  S  N         p.760

          .         .         .         .         .         .       g.32382
 CCTTGTGTCAACGGCGGCACCTGCAAAGACATGACCAGTGGCTACGTGTGCACCTGCCGG       c.2340
 P  C  V  N  G  G  T  C  K  D  M  T  S  G  Y  V  C  T  C  R         p.780

          .    | 15    .         .         .         .         .    g.32699
 GAGGGCTTCAGCG | GTCCCAACTGCCAGACCAACATCAACGAGTGTGCGTCCAACCCATGT    c.2400
 E  G  F  S  G |   P  N  C  Q  T  N  I  N  E  C  A  S  N  P  C      p.800

          .         .         .         .         .         .       g.32759
 CTGAACCAGGGCACGTGTATTGACGACGTTGCCGGGTACAAGTGCAACTGCCTGCTGCCC       c.2460
 L  N  Q  G  T  C  I  D  D  V  A  G  Y  K  C  N  C  L  L  P         p.820

         | 16.         .         .         .         .         .    g.34568
 TACACAG | GTGCCACGTGTGAGGTGGTGCTGGCCCCGTGTGCCCCCAGCCCCTGCAGAAAC    c.2520
 Y  T  G |   A  T  C  E  V  V  L  A  P  C  A  P  S  P  C  R  N      p.840

          .         .         .         .         .         .       g.34628
 GGCGGGGAGTGCAGGCAATCCGAGGACTATGAGAGCTTCTCCTGTGTCTGCCCCACGGGC       c.2580
 G  G  E  C  R  Q  S  E  D  Y  E  S  F  S  C  V  C  P  T  G         p.860

         | 17.         .         .         .         .         .    g.35034
 TGGCAAG | GGCAGACCTGTGAGGTCGACATCAACGAGTGCGTTCTGAGCCCGTGCCGGCAC    c.2640
 W  Q  G |   Q  T  C  E  V  D  I  N  E  C  V  L  S  P  C  R  H      p.880

          .         .         .         .         .         .       g.35094
 GGCGCATCCTGCCAGAACACCCACGGCGGCTACCGCTGCCACTGCCAGGCCGGCTACAGT       c.2700
 G  A  S  C  Q  N  T  H  G  G  Y  R  C  H  C  Q  A  G  Y  S         p.900

          .         .         .         . | 18       .         .    g.35845
 GGGCGCAACTGCGAGACCGACATCGACGACTGCCGGCCCA | ACCCGTGTCACAACGGGGGC    c.2760
 G  R  N  C  E  T  D  I  D  D  C  R  P  N |   P  C  H  N  G  G      p.920

          .         .         .         .         .         .       g.35905
 TCCTGCACAGACGGCATCAACACGGCCTTCTGCGACTGCCTGCCCGGCTTCCGGGGCACT       c.2820
 S  C  T  D  G  I  N  T  A  F  C  D  C  L  P  G  F  R  G  T         p.940

          .         .         .         .         .         .       g.35965
 TTCTGTGAGGAGGACATCAACGAGTGTGCCAGTGACCCCTGCCGCAACGGGGCCAACTGC       c.2880
 F  C  E  E  D  I  N  E  C  A  S  D  P  C  R  N  G  A  N  C         p.960

          .         .         .         .         .         .       g.36025
 ACGGACTGCGTGGACAGCTACACGTGCACCTGCCCCGCAGGCTTCAGCGGGATCCACTGT       c.2940
 T  D  C  V  D  S  Y  T  C  T  C  P  A  G  F  S  G  I  H  C         p.980

          .         .          | 19        .         .         .    g.36746
 GAGAACAACACGCCTGACTGCACAGAGAG | CTCCTGCTTCAACGGTGGCACCTGCGTGGAC    c.3000
 E  N  N  T  P  D  C  T  E  S  |  S  C  F  N  G  G  T  C  V  D      p.1000

          .         .         .         .         .         .       g.36806
 GGCATCAACTCGTTCACCTGCCTGTGTCCACCCGGCTTCACGGGCAGCTACTGCCAGCAC       c.3060
 G  I  N  S  F  T  C  L  C  P  P  G  F  T  G  S  Y  C  Q  H         p.1020

          .         .         .         .         .         .       g.36866
 GATGTCAATGAGTGCGACTCACAGCCCTGCCTGCATGGCGGCACCTGTCAGGACGGCTGC       c.3120
 D  V  N  E  C  D  S  Q  P  C  L  H  G  G  T  C  Q  D  G  C         p.1040

          .         .         .         .         .  | 20      .    g.37410
 GGCTCCTACAGGTGCACCTGCCCCCAGGGCTACACTGGCCCCAACTGCCAG | AACCTTGTG    c.3180
 G  S  Y  R  C  T  C  P  Q  G  Y  T  G  P  N  C  Q   | N  L  V      p.1060

          .         .         .         .         .         .       g.37470
 CACTGGTGTGACTCCTCGCCCTGCAAGAACGGCGGCAAATGCTGGCAGACCCACACCCAG       c.3240
 H  W  C  D  S  S  P  C  K  N  G  G  K  C  W  Q  T  H  T  Q         p.1080

          .         .         .         .         .         .       g.37530
 TACCGCTGCGAGTGCCCCAGCGGCTGGACCGGCCTTTACTGCGACGTGCCCAGCGTGTCC       c.3300
 Y  R  C  E  C  P  S  G  W  T  G  L  Y  C  D  V  P  S  V  S         p.1100

          .         .      | 21  .         .         .         .    g.37682
 TGTGAGGTGGCTGCGCAGCGACAAG | GTGTTGACGTTGCCCGCCTGTGCCAGCATGGAGGG    c.3360
 C  E  V  A  A  Q  R  Q  G |   V  D  V  A  R  L  C  Q  H  G  G      p.1120

          .         .         .         .         .         .       g.37742
 CTCTGTGTGGACGCGGGCAACACGCACCACTGCCGCTGCCAGGCGGGCTACACAGGCAGC       c.3420
 L  C  V  D  A  G  N  T  H  H  C  R  C  Q  A  G  Y  T  G  S         p.1140

          .         .         .         .         .         .       g.37802
 TACTGTGAGGACCTGGTGGACGAGTGCTCACCCAGCCCCTGCCAGAACGGGGCCACCTGC       c.3480
 Y  C  E  D  L  V  D  E  C  S  P  S  P  C  Q  N  G  A  T  C         p.1160

          .         .         . | 22       .         .         .    g.38379
 ACGGACTACCTGGGCGGCTACTCCTGCAAG | TGCGTGGCCGGCTACCACGGGGTGAACTGC    c.3540
 T  D  Y  L  G  G  Y  S  C  K   | C  V  A  G  Y  H  G  V  N  C      p.1180

          .         .         .         .         .         .       g.38439
 TCTGAGGAGATCGACGAGTGCCTCTCCCACCCCTGCCAGAACGGGGGCACCTGCCTCGAC       c.3600
 S  E  E  I  D  E  C  L  S  H  P  C  Q  N  G  G  T  C  L  D         p.1200

          .         .         .         .    | 23    .         .    g.38830
 CTCCCCAACACCTACAAGTGCTCCTGCCCACGGGGCACTCAGG | GTGTGCACTGTGAGATC    c.3660
 L  P  N  T  Y  K  C  S  C  P  R  G  T  Q  G |   V  H  C  E  I      p.1220

          .         .         .         .         .         .       g.38890
 AACGTGGACGACTGCAATCCCCCCGTTGACCCCGTGTCCCGGAGCCCCAAGTGCTTTAAC       c.3720
 N  V  D  D  C  N  P  P  V  D  P  V  S  R  S  P  K  C  F  N         p.1240

          .         .         .         .         .         .       g.38950
 AACGGCACCTGCGTGGACCAGGTGGGCGGCTACAGCTGCACCTGCCCGCCGGGCTTCGTG       c.3780
 N  G  T  C  V  D  Q  V  G  G  Y  S  C  T  C  P  P  G  F  V         p.1260

          .         .         .         .         .         .       g.39010
 GGTGAGCGCTGTGAGGGGGATGTCAACGAGTGCCTGTCCAATCCCTGCGACGCCCGTGGC       c.3840
 G  E  R  C  E  G  D  V  N  E  C  L  S  N  P  C  D  A  R  G         p.1280

          .         .         .         .         .         .       g.39070
 ACCCAGAACTGCGTGCAGCGCGTCAATGACTTCCACTGCGAGTGCCGTGCTGGTCACACC       c.3900
 T  Q  N  C  V  Q  R  V  N  D  F  H  C  E  C  R  A  G  H  T         p.1300

   | 24      .         .         .         .         .         .    g.39206
 G | GGCGCCGCTGCGAGTCCGTCATCAATGGCTGCAAAGGCAAGCCCTGCAAGAATGGGGGC    c.3960
 G |   R  R  C  E  S  V  I  N  G  C  K  G  K  P  C  K  N  G  G      p.1320

          .         .         .         .         .     | 25   .    g.39911
 ACCTGCGCCGTGGCCTCCAACACCGCCCGCGGGTTCATCTGCAAGTGCCCTGCG | GGCTTC    c.4020
 T  C  A  V  A  S  N  T  A  R  G  F  I  C  K  C  P  A   | G  F      p.1340

          .         .         .         .         .         .       g.39971
 GAGGGCGCCACGTGTGAGAATGACGCTCGTACCTGCGGCAGCCTGCGCTGCCTCAACGGC       c.4080
 E  G  A  T  C  E  N  D  A  R  T  C  G  S  L  R  C  L  N  G         p.1360

          .         .         .         .         .         .       g.40031
 GGCACATGCATCTCCGGCCCGCGCAGCCCCACCTGCCTGTGCCTGGGCCCCTTCACGGGC       c.4140
 G  T  C  I  S  G  P  R  S  P  T  C  L  C  L  G  P  F  T  G         p.1380

          .         .         .         .         .         .       g.40091
 CCCGAATGCCAGTTCCCGGCCAGCAGCCCCTGCCTGGGCGGCAACCCCTGCTACAACCAG       c.4200
 P  E  C  Q  F  P  A  S  S  P  C  L  G  G  N  P  C  Y  N  Q         p.1400

          .         .         .         .         .         .       g.40151
 GGGACCTGTGAGCCCACATCCGAGAGCCCCTTCTACCGTTGCCTGTGCCCCGCCAAATTC       c.4260
 G  T  C  E  P  T  S  E  S  P  F  Y  R  C  L  C  P  A  K  F         p.1420

          .         .         .         .         .         .       g.40211
 AACGGGCTCTTGTGCCACATCCTGGACTACAGCTTCGGGGGTGGGGCCGGGCGCGACATC       c.4320
 N  G  L  L  C  H  I  L  D  Y  S  F  G  G  G  A  G  R  D  I         p.1440

          .         .         .         .         .         .       g.40271
 CCCCCGCCGCTGATCGAGGAGGCGTGCGAGCTGCCCGAGTGCCAGGAGGACGCGGGCAAC       c.4380
 P  P  P  L  I  E  E  A  C  E  L  P  E  C  Q  E  D  A  G  N         p.1460

          .         .         .         .         .         .       g.40331
 AAGGTCTGCAGCCTGCAGTGCAACAACCACGCGTGCGGCTGGGACGGCGGTGACTGCTCC       c.4440
 K  V  C  S  L  Q  C  N  N  H  A  C  G  W  D  G  G  D  C  S         p.1480

          .         .         .         .         .         .       g.40391
 CTCAACTTCAATGACCCCTGGAAGAACTGCACGCAGTCTCTGCAGTGCTGGAAGTACTTC       c.4500
 L  N  F  N  D  P  W  K  N  C  T  Q  S  L  Q  C  W  K  Y  F         p.1500

          .         .         .         .         .         .       g.40451
 AGTGACGGCCACTGTGACAGCCAGTGCAACTCAGCCGGCTGCCTCTTCGACGGCTTTGAC       c.4560
 S  D  G  H  C  D  S  Q  C  N  S  A  G  C  L  F  D  G  F  D         p.1520

          .         .       | 26 .         .         .         .    g.40716
 TGCCAGCGTGCGGAAGGCCAGTGCAA | CCCCCTGTACGACCAGTACTGCAAGGACCACTTC    c.4620
 C  Q  R  A  E  G  Q  C  N  |  P  L  Y  D  Q  Y  C  K  D  H  F      p.1540

          .         .         .         .         .         .       g.40776
 AGCGACGGGCACTGCGACCAGGGCTGCAACAGCGCGGAGTGCGAGTGGGACGGGCTGGAC       c.4680
 S  D  G  H  C  D  Q  G  C  N  S  A  E  C  E  W  D  G  L  D         p.1560

          .         .         .         .         .         .       g.40836
 TGTGCGGAGCATGTACCCGAGAGGCTGGCGGCCGGCACGCTGGTGGTGGTGGTGCTGATG       c.4740
 C  A  E  H  V  P  E  R  L  A  A  G  T  L  V  V  V  V  L  M         p.1580

          .         .         .         .         .         .       g.40896
 CCGCCGGAGCAGCTGCGCAACAGCTCCTTCCACTTCCTGCGGGAGCTCAGCCGCGTGCTG       c.4800
 P  P  E  Q  L  R  N  S  S  F  H  F  L  R  E  L  S  R  V  L         p.1600

          .         .         .         .         .         .       g.40956
 CACACCAACGTGGTCTTCAAGCGTGACGCACACGGCCAGCAGATGATCTTCCCCTACTAC       c.4860
 H  T  N  V  V  F  K  R  D  A  H  G  Q  Q  M  I  F  P  Y  Y         p.1620

          .         .         .         .         .         .       g.41016
 GGCCGCGAGGAGGAGCTGCGCAAGCACCCCATCAAGCGTGCCGCCGAGGGCTGGGCCGCA       c.4920
 G  R  E  E  E  L  R  K  H  P  I  K  R  A  A  E  G  W  A  A         p.1640

          .         .         .         .         .         .       g.41076
 CCTGACGCCCTGCTGGGCCAGGTGAAGGCCTCGCTGCTCCCTGGTGGCAGCGAGGGTGGG       c.4980
 P  D  A  L  L  G  Q  V  K  A  S  L  L  P  G  G  S  E  G  G         p.1660

          .         .         .         | 27         .         .    g.42478
 CGGCGGCGGAGGGAGCTGGACCCCATGGACGTCCGCGG | CTCCATCGTCTACCTGGAGATT    c.5040
 R  R  R  R  E  L  D  P  M  D  V  R  G  |  S  I  V  Y  L  E  I      p.1680

          .         .         .         .         .         .       g.42538
 GACAACCGGCAGTGTGTGCAGGCCTCCTCGCAGTGCTTCCAGAGTGCCACCGACGTGGCC       c.5100
 D  N  R  Q  C  V  Q  A  S  S  Q  C  F  Q  S  A  T  D  V  A         p.1700

          .         .         .         .         .         .       g.42598
 GCATTCCTGGGAGCGCTCGCCTCGCTGGGCAGCCTCAACATCCCCTACAAGATCGAGGCC       c.5160
 A  F  L  G  A  L  A  S  L  G  S  L  N  I  P  Y  K  I  E  A         p.1720

         | 28.         .         .         .         .         .    g.43351
 GTGCAGA | GTGAGACCGTGGAGCCGCCCCCGCCGGCGCAGCTGCACTTCATGTACGTGGCG    c.5220
 V  Q  S |   E  T  V  E  P  P  P  P  A  Q  L  H  F  M  Y  V  A      p.1740

          .         .         .         .         .         .       g.43411
 GCGGCCGCCTTTGTGCTTCTGTTCTTCGTGGGCTGCGGGGTGCTGCTGTCCCGCAAGCGC       c.5280
 A  A  A  F  V  L  L  F  F  V  G  C  G  V  L  L  S  R  K  R         p.1760

          .         .         .         .         .         .       g.43471
 CGGCGGCAGCATGGCCAGCTCTGGTTCCCTGAGGGCTTCAAAGTGTCTGAGGCCAGCAAG       c.5340
 R  R  Q  H  G  Q  L  W  F  P  E  G  F  K  V  S  E  A  S  K         p.1780

          .         .         .         .     | 29   .         .    g.43714
 AAGAAGCGGCGGGAGCCCCTCGGCGAGGACTCCGTGGGCCTCAA | GCCCCTGAAGAACGCT    c.5400
 K  K  R  R  E  P  L  G  E  D  S  V  G  L  K  |  P  L  K  N  A      p.1800

          .         .         .         .         .         .       g.43774
 TCAGACGGTGCCCTCATGGACGACAACCAGAATGAGTGGGGGGACGAGGACCTGGAGACC       c.5460
 S  D  G  A  L  M  D  D  N  Q  N  E  W  G  D  E  D  L  E  T         p.1820

          .   | 30     .         .         .         .         .    g.43921
 AAGAAGTTCCGG | TTCGAGGAGCCCGTGGTTCTGCCTGACCTGGACGACCAGACAGACCAC    c.5520
 K  K  F  R   | F  E  E  P  V  V  L  P  D  L  D  D  Q  T  D  H      p.1840

          .         .         .         .         .         .       g.43981
 CGGCAGTGGACTCAGCAGCACCTGGATGCCGCTGACCTGCGCATGTCTGCCATGGCCCCC       c.5580
 R  Q  W  T  Q  Q  H  L  D  A  A  D  L  R  M  S  A  M  A  P         p.1860

          .         .         .         .         .         | 31    g.44941
 ACACCGCCCCAGGGTGAGGTTGACGCCGACTGCATGGACGTCAATGTCCGCGGGCCTG | AT    c.5640
 T  P  P  Q  G  E  V  D  A  D  C  M  D  V  N  V  R  G  P  D |       p.1880

          .         .         .         .         .         .       g.45001
 GGCTTCACCCCGCTCATGATCGCCTCCTGCAGCGGGGGCGGCCTGGAGACGGGCAACAGC       c.5700
 G  F  T  P  L  M  I  A  S  C  S  G  G  G  L  E  T  G  N  S         p.1900

          .         .         .         .         .         .       g.45061
 GAGGAAGAGGAGGACGCGCCGGCCGTCATCTCCGACTTCATCTACCAGGGCGCCAGCCTG       c.5760
 E  E  E  E  D  A  P  A  V  I  S  D  F  I  Y  Q  G  A  S  L         p.1920

          .         .         .         .         .         .       g.45121
 CACAACCAGACAGACCGCACGGGCGAGACCGCCTTGCACCTGGCCGCCCGCTACTCACGC       c.5820
 H  N  Q  T  D  R  T  G  E  T  A  L  H  L  A  A  R  Y  S  R         p.1940

          .         .         .         .         .         .       g.45181
 TCTGATGCCGCCAAGCGCCTGCTGGAGGCCAGCGCAGATGCCAACATCCAGGACAACATG       c.5880
 S  D  A  A  K  R  L  L  E  A  S  A  D  A  N  I  Q  D  N  M         p.1960

          .         .         .         .         .     | 32   .    g.46533
 GGCCGCACCCCGCTGCATGCGGCTGTGTCTGCCGACGCACAAGGTGTCTTCCAG | ATCCTG    c.5940
 G  R  T  P  L  H  A  A  V  S  A  D  A  Q  G  V  F  Q   | I  L      p.1980

          .         .         .         .         .         .       g.46593
 ATCCGGAACCGAGCCACAGACCTGGATGCCCGCATGCATGATGGCACGACGCCACTGATC       c.6000
 I  R  N  R  A  T  D  L  D  A  R  M  H  D  G  T  T  P  L  I         p.2000

          .         .         .         .         .         .       g.46653
 CTGGCTGCCCGCCTGGCCGTGGAGGGCATGCTGGAGGACCTCATCAACTCACACGCCGAC       c.6060
 L  A  A  R  L  A  V  E  G  M  L  E  D  L  I  N  S  H  A  D         p.2020

          .         .   | 33     .         .         .         .    g.46828
 GTCAACGCCGTAGATGACCTGG | GCAAGTCCGCCCTGCACTGGGCCGCCGCCGTGAACAAT    c.6120
 V  N  A  V  D  D  L  G |   K  S  A  L  H  W  A  A  A  V  N  N      p.2040

          .         .         .         .         .         .       g.46888
 GTGGATGCCGCAGTTGTGCTCCTGAAGAACGGGGCTAACAAAGATATGCAGAACAACAGG       c.6180
 V  D  A  A  V  V  L  L  K  N  G  A  N  K  D  M  Q  N  N  R         p.2060

  | 34       .         .         .         .         .         .    g.48288
  | GAGGAGACACCCCTGTTTCTGGCCGCCCGGGAGGGCAGCTACGAGACCGCCAAGGTGCTG    c.6240
  | E  E  T  P  L  F  L  A  A  R  E  G  S  Y  E  T  A  K  V  L      p.2080

          .         .         .         .         .         .       g.48348
 CTGGACCACTTTGCCAACCGGGACATCACGGATCATATGGACCGCCTGCCGCGCGACATC       c.6300
 L  D  H  F  A  N  R  D  I  T  D  H  M  D  R  L  P  R  D  I         p.2100

          .         .         .         .         .         .       g.48408
 GCACAGGAGCGCATGCATCACGACATCGTGAGGCTGCTGGACGAGTACAACCTGGTGCGC       c.6360
 A  Q  E  R  M  H  H  D  I  V  R  L  L  D  E  Y  N  L  V  R         p.2120

          .         .         .         .         .         .       g.48468
 AGCCCGCAGCTGCACGGAGCCCCGCTGGGGGGCACGCCCACCCTGTCGCCCCCGCTCTGC       c.6420
 S  P  Q  L  H  G  A  P  L  G  G  T  P  T  L  S  P  P  L  C         p.2140

          .         .         .         .         .         .       g.48528
 TCGCCCAACGGCTACCTGGGCAGCCTCAAGCCCGGCGTGCAGGGCAAGAAGGTCCGCAAG       c.6480
 S  P  N  G  Y  L  G  S  L  K  P  G  V  Q  G  K  K  V  R  K         p.2160

          .         .         .         .         .         .       g.48588
 CCCAGCAGCAAAGGCCTGGCCTGTGGAAGCAAGGAGGCCAAGGACCTCAAGGCACGGAGG       c.6540
 P  S  S  K  G  L  A  C  G  S  K  E  A  K  D  L  K  A  R  R         p.2180

          .         .         .         .         .         .       g.48648
 AAGAAGTCCCAGGACGGCAAGGGCTGCCTGCTGGACAGCTCCGGCATGCTCTCGCCCGTG       c.6600
 K  K  S  Q  D  G  K  G  C  L  L  D  S  S  G  M  L  S  P  V         p.2200

          .         .         .         .         .         .       g.48708
 GACTCCCTGGAGTCACCCCATGGCTACCTGTCAGACGTGGCCTCGCCGCCACTGCTGCCC       c.6660
 D  S  L  E  S  P  H  G  Y  L  S  D  V  A  S  P  P  L  L  P         p.2220

          .         .         .         .         .         .       g.48768
 TCCCCGTTCCAGCAGTCTCCGTCCGTGCCCCTCAACCACCTGCCTGGGATGCCCGACACC       c.6720
 S  P  F  Q  Q  S  P  S  V  P  L  N  H  L  P  G  M  P  D  T         p.2240

          .         .         .         .         .         .       g.48828
 CACCTGGGCATCGGGCACCTGAACGTGGCGGCCAAGCCCGAGATGGCGGCGCTGGGTGGG       c.6780
 H  L  G  I  G  H  L  N  V  A  A  K  P  E  M  A  A  L  G  G         p.2260

          .         .         .         .         .         .       g.48888
 GGCGGCCGGCTGGCCTTTGAGACTGGCCCACCTCGTCTCTCCCACCTGCCTGTGGCCTCT       c.6840
 G  G  R  L  A  F  E  T  G  P  P  R  L  S  H  L  P  V  A  S         p.2280

          .         .         .         .         .         .       g.48948
 GGCACCAGCACCGTCCTGGGCTCCAGCAGCGGAGGGGCCCTGAATTTCACTGTGGGCGGG       c.6900
 G  T  S  T  V  L  G  S  S  S  G  G  A  L  N  F  T  V  G  G         p.2300

          .         .         .         .         .         .       g.49008
 TCCACCAGTTTGAATGGTCAATGCGAGTGGCTGTCCCGGCTGCAGAGCGGCATGGTGCCG       c.6960
 S  T  S  L  N  G  Q  C  E  W  L  S  R  L  Q  S  G  M  V  P         p.2320

          .         .         .         .         .         .       g.49068
 AACCAATACAACCCTCTGCGGGGGAGTGTGGCACCAGGCCCCCTGAGCACACAGGCCCCC       c.7020
 N  Q  Y  N  P  L  R  G  S  V  A  P  G  P  L  S  T  Q  A  P         p.2340

          .         .         .         .         .         .       g.49128
 TCCCTGCAGCATGGCATGGTAGGCCCGCTGCACAGTAGCCTTGCTGCCAGCGCCCTGTCC       c.7080
 S  L  Q  H  G  M  V  G  P  L  H  S  S  L  A  A  S  A  L  S         p.2360

          .         .         .         .         .         .       g.49188
 CAGATGATGAGCTACCAGGGCCTGCCCAGCACCCGGCTGGCCACCCAGCCTCACCTGGTG       c.7140
 Q  M  M  S  Y  Q  G  L  P  S  T  R  L  A  T  Q  P  H  L  V         p.2380

          .         .         .         .         .         .       g.49248
 CAGACCCAGCAGGTGCAGCCACAAAACTTACAGATGCAGCAGCAGAACCTGCAGCCAGCA       c.7200
 Q  T  Q  Q  V  Q  P  Q  N  L  Q  M  Q  Q  Q  N  L  Q  P  A         p.2400

          .         .         .         .         .         .       g.49308
 AACATCCAGCAGCAGCAAAGCCTGCAGCCGCCACCACCACCACCACAGCCGCACCTTGGC       c.7260
 N  I  Q  Q  Q  Q  S  L  Q  P  P  P  P  P  P  Q  P  H  L  G         p.2420

          .         .         .         .         .         .       g.49368
 GTGAGCTCAGCAGCCAGCGGCCACCTGGGCCGGAGCTTCCTGAGTGGAGAGCCGAGCCAG       c.7320
 V  S  S  A  A  S  G  H  L  G  R  S  F  L  S  G  E  P  S  Q         p.2440

          .         .         .         .         .         .       g.49428
 GCAGACGTGCAGCCACTGGGCCCCAGCAGCCTGGCGGTGCACACTATTCTGCCCCAGGAG       c.7380
 A  D  V  Q  P  L  G  P  S  S  L  A  V  H  T  I  L  P  Q  E         p.2460

          .         .         .         .         .         .       g.49488
 AGCCCCGCCCTGCCCACGTCGCTGCCATCCTCGCTGGTCCCACCCGTGACCGCAGCCCAG       c.7440
 S  P  A  L  P  T  S  L  P  S  S  L  V  P  P  V  T  A  A  Q         p.2480

          .         .         .         .         .         .       g.49548
 TTCCTGACGCCCCCCTCGCAGCACAGCTACTCCTCGCCTGTGGACAACACCCCCAGCCAC       c.7500
 F  L  T  P  P  S  Q  H  S  Y  S  S  P  V  D  N  T  P  S  H         p.2500

          .         .         .         .         .         .       g.49608
 CAGCTACAGGTGCCTGAGCACCCCTTCCTCACCCCGTCCCCTGAGTCCCCTGACCAGTGG       c.7560
 Q  L  Q  V  P  E  H  P  F  L  T  P  S  P  E  S  P  D  Q  W         p.2520

          .         .         .         .         .         .       g.49668
 TCCAGCTCGTCCCCGCATTCCAACGTCTCCGACTGGTCCGAGGGCGTCTCCAGCCCTCCC       c.7620
 S  S  S  S  P  H  S  N  V  S  D  W  S  E  G  V  S  S  P  P         p.2540

          .         .         .         .                           g.49716
 ACCAGCATGCAGTCCCAGATCGCCCGCATTCCGGAGGCCTTCAAGTAA                   c.7668
 T  S  M  Q  S  Q  I  A  R  I  P  E  A  F  K  X                     p.2555

          .         .         .         .         .         .       g.49776
 acggcgcgccccacgagaccccggcttcctttcccaagccttcgggcgtctgtgtgcgct       c.*60

          .         .         .         .         .         .       g.49836
 ctgtggatgccagggccgaccagaggagcctttttaaaacacatgtttttatacaaaata       c.*120

          .         .         .         .         .         .       g.49896
 agaacgaggattttaattttttttagtatttatttatgtacttttattttacacagaaac       c.*180

          .         .         .         .         .         .       g.49956
 actgcctttttatttatatgtactgttttatctggccccaggtagaaacttttatctatt       c.*240

          .         .         .         .         .         .       g.50016
 ctgagaaaacaagcaagttctgagagccagggttttcctacgtaggatgaaaagattctt       c.*300

          .         .         .         .         .         .       g.50076
 ctgtgtttataaaatataaacaaagattcatgatttataaatgccatttatttattgatt       c.*360

          .         .         .         .         .         .       g.50136
 ccttttttcaaaatccaaaaagaaatgatgttggagaagggaagttgaacgagcatagtc       c.*420

          .         .         .         .         .         .       g.50196
 caaaaagctcctggggcgtccaggccgcgccctttccccgacgcccacccaaccccaagc       c.*480

          .         .         .         .         .         .       g.50256
 cagcccggccgctccaccagcatcacctgcctgttaggagaagctgcatccagaggcaaa       c.*540

          .         .         .         .         .         .       g.50316
 cggaggcaaagctggctcaccttccgcacgcggattaatttgcatctgaaataggaaaca       c.*600

          .         .         .         .         .         .       g.50376
 agtgaaagcatatgggttagatgttgccatgtgttttagatggtttcttgcaagcatgct       c.*660

          .         .         .         .         .         .       g.50436
 tgtgaaaatgtgttctcggagtgtgtatgccaagagtgcacccatggtaccaatcatgaa       c.*720

          .         .         .         .         .         .       g.50496
 tctttgtttcaggttcagtattatgtagttgttcgttggttatacaagttcttggtccct       c.*780

          .         .         .         .         .         .       g.50556
 ccagaaccaccccggccccctgcccgttcttgaaatgtaggcatcatgcatgtcaaacat       c.*840

          .         .         .         .         .         .       g.50616
 gagatgtgtggactgtggcacttgcctgggtcacacacggaggcatcctacccttttctg       c.*900

          .         .         .         .         .         .       g.50676
 gggaaagacactgcctgggctgaccccggtggcggccccagcacctcagcctgcacagtg       c.*960

          .         .         .         .         .         .       g.50736
 tcccccaggttccgaagaagatgctccagcaacacagcctgggccccagctcgcgggacc       c.*1020

          .         .         .         .         .         .       g.50796
 cgaccccccgtgggctcccgtgttttgtaggagacttgccagagccgggcacattgagct       c.*1080

          .         .         .         .         .         .       g.50856
 gtgcaacgccgtgggctgcgtcctttggtcctgtccccgcagccctggcagggggcatgc       c.*1140

          .         .         .         .         .         .       g.50916
 ggtcgggcaggggctggagggaggcgggggctgcccttgggccacccctcctagtttggg       c.*1200

          .         .         .         .         .         .       g.50976
 aggagcagatttttgcaataccaagtatagcctatggcagaaaaaatgtctgtaaatatg       c.*1260

          .         .         .         .         .         .       g.51036
 tttttaaaggtggattttgtttaaaaaatcttaatgaatgagtctgttgtgtgtcatgcc       c.*1320

          .         .         .         .         .         .       g.51096
 agtgagggacgtcagacttggctcagctcggggagccttagccgcccatgcactggggac       c.*1380

          .         .         .         .         .         .       g.51156
 gctccgctgccgtgccgcctgcactcctcagggcagcctcccccggctctacgggggccg       c.*1440

          .         .         .         .         .         .       g.51216
 cgtggtgccatccccagggggcatgaccagatgcgtcccaagatgttgatttttactgtg       c.*1500

          .         .         .         .         .         .       g.51276
 ttttataaaatagagtgtagtttacagaaaaagactttaaaagtgatctacatgaggaac       c.*1560

          .         .         .         .         .         .       g.51336
 tgtagatgatgtatttttttcatcttttttgttaactgatttgcaataaaaatgatactg       c.*1620

                                                                    g.51343
 atggtga                                                            c.*1627

 (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 Notch 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.

Powered by LOVD v.3.0 Build 15
©2004-2016 Leiden University Medical Center