(used for variant description)
(last modified February 16, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_013432.4 in the TONSL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering TONSL transcript NM_013432.4.
(upstream sequence)
. g.5015
cgcggcgatccgagc c.-1
. . | 02 . . . . g.5189
ATGAGCCTGGAGCGCGAGCTTCGCC | AGCTGAGCAAGGCGAAAGCCAAGGCGCAGAGGGCC c.60
M S L E R E L R Q | L S K A K A K A Q R A p.20
. . . . . . g.5249
GGGCAGCGGCGCGAAGAGGCCGCGCTGTGCCACCAGCTGGGGGAGCTCCTGGCCGGCCAT c.120
G Q R R E E A A L C H Q L G E L L A G H p.40
| 03 . . . . . . g.5464
G | GCCGCTACGCCGAGGCTCTGGAGCAGCACTGGCAGGAGCTGCAGCTTCGGGAGCGCGCT c.180
G | R Y A E A L E Q H W Q E L Q L R E R A p.60
. . . . . . g.5524
GACGACCCTCTGGGCTGTGCCGTGGCCCACCGCAAGATCGGAGAGCGCCTGGCCGAGATG c.240
D D P L G C A V A H R K I G E R L A E M p.80
. . | 04 . . . . g.6144
GAGGACTACCCGGCTGCCTTGCAG | CACCAGCACCAGTACCTGGAGCTGGCACATTCCCTG c.300
E D Y P A A L Q | H Q H Q Y L E L A H S L p.100
. . . . . . g.6204
CGCAACCACACGGAGCTGCAGAGGGCCTGGGCCACCATCGGCCGCACCCACCTGGACATC c.360
R N H T E L Q R A W A T I G R T H L D I p.120
. . . . . . g.6264
TATGACCACTGCCAGTCGAGGGATGCTTTGCTGCAGGCACAGGCTGCCTTTGAGAAGAGC c.420
Y D H C Q S R D A L L Q A Q A A F E K S p.140
. . | 05 . . . g.6655
TTGGCTATTGTGGATGAGGAGCTGGAGG | GGACACTGGCCCAGGGAGAGCTGAATGAGATG c.480
L A I V D E E L E G | T L A Q G E L N E M p.160
. . . . . . g.6715
AGGACCCGCCTCTATCTCAACCTGGGCCTCACCTTTGAGAGCCTGCAGCAGACAGCCCTG c.540
R T R L Y L N L G L T F E S L Q Q T A L p.180
. . . | 06 . . g.7039
TGCAACGATTACTTCAGGAAGAGCATCTTCCTTGCGGA | GCAGAACCACCTTTACGAGGAC c.600
C N D Y F R K S I F L A E | Q N H L Y E D p.200
. . . . . . g.7099
CTATTCCGCGCCCGCTACAACCTGGGCACCATCCACTGGCGCGCGGGCCAGCACTCCCAG c.660
L F R A R Y N L G T I H W R A G Q H S Q p.220
. . . . . . g.7159
GCTATGCGCTGCTTGGAGGGTGCCCGGGAGTGTGCGCACACCATGAGGAAGCGGTTCATG c.720
A M R C L E G A R E C A H T M R K R F M p.240
. . . | 07 . . . g.7308
GAGAGCGAGTGCTGCGTGGTTATTGCACAG | GTCCTCCAAGACCTGGGAGACTTTTTGGCT c.780
E S E C C V V I A Q | V L Q D L G D F L A p.260
. . . . . . g.7368
GCCAAGCGAGCCCTGAAGAAGGCCTACAGGCTGGGCTCCCAGAAGCCTGTGCAGAGGGCA c.840
A K R A L K K A Y R L G S Q K P V Q R A p.280
. . | 08 . . . . g.8353
GCCATCTGTCAGAACCTCCAGCATG | TGCTGGCAGTGGTCCGGCTGCAGCAACAGCTGGAA c.900
A I C Q N L Q H V | L A V V R L Q Q Q L E p.300
. . . . . . g.8413
GAGGCTGAGGGCAGAGACCCTCAGGGTGCCATGGTCATCTGTGAGCAGCTAGGGGACCTC c.960
E A E G R D P Q G A M V I C E Q L G D L p.320
. . . . . | 09 . g.8568
TTCTCCAAGGCAGGAGACTTTCCCAGGGCAGCTGAGGCTTACCAGAAGCAG | CTGCGTTTT c.1020
F S K A G D F P R A A E A Y Q K Q | L R F p.340
. . . . . . g.8628
GCTGAGCTGCTGGACAGACCGGGTGCTGAGCGGGCCATCATCCACGTGTCCCTGGCCACC c.1080
A E L L D R P G A E R A I I H V S L A T p.360
. . . . . . g.8688
ACACTGGGAGACATGAAGGACCACCATGGGGCCGTGCGCCACTATGAGGAGGAACTGAGG c.1140
T L G D M K D H H G A V R H Y E E E L R p.380
. . | 10 . . . . g.8989
CTGCGCAGCGGCAACGTGCTGGAG | GAGGCCAAGACCTGGCTGAACATTGCACTGTCCCGC c.1200
L R S G N V L E | E A K T W L N I A L S R p.400
. . . . . . g.9049
GAGGAGGCCGGCGATGCCTACGAGCTGCTGGCCCCGTGCTTCCAGAAAGCGCTCAGCTGT c.1260
E E A G D A Y E L L A P C F Q K A L S C p.420
. . . | 11 . . . g.9249
GCCCAGCAGGCCCAGCGTCCCCAGCTGCAG | AGGCAGGTCTTGCAGCATCTCCATACCGTG c.1320
A Q Q A Q R P Q L Q | R Q V L Q H L H T V p.440
. . . . . . g.9309
CAGCTGAGGCTGCAGCCCCAGGAGGCCCCTGAGACCGAAACCAGACTACGGGAGCTCAGT c.1380
Q L R L Q P Q E A P E T E T R L R E L S p.460
. . . . . . g.9369
GTAGCTGAAGATGAAGATGAGGAGGAGGAGGCGGAGGAGGCGGCAGCCACAGCGGAGAGC c.1440
V A E D E D E E E E A E E A A A T A E S p.480
. . . . | 12 . . g.10714
GAAGCCCTGGAGGCCGGCGAGGTGGAGCTCTCAGAGGGCG | AGGACGACACCGATGGCCTG c.1500
E A L E A G E V E L S E G E | D D T D G L p.500
. . . . . . g.10774
ACCCCGCAGCTGGAGGAGGACGAGGAGCTTCAGGGCCACCTGGGCCGGCGGAAGGGGAGC c.1560
T P Q L E E D E E L Q G H L G R R K G S p.520
| 13 . . . . . . g.10926
AAG | TGGAACCGGCGAAACGACATGGGGGAGACCCTGCTGCACCGAGCCTGCATCGAGGGC c.1620
K | W N R R N D M G E T L L H R A C I E G p.540
. . . | 14 . . . g.12357
CAGCTGCGCCGCGTCCAGGACCTTGTGAGGCAG | GGCCACCCCCTTAACCCTCGGGACTAC c.1680
Q L R R V Q D L V R Q | G H P L N P R D Y p.560
. . . . | 15 . . g.12523
TGTGGCTGGACACCTCTGCACGAGGCCTGCAACTACGGGCATCTAG | AAATTGTCCGCTTC c.1740
C G W T P L H E A C N Y G H L E | I V R F p.580
. . . . . . g.12583
CTGCTGGACCACGGGGCCGCAGTGGACGACCCAGGTGGCCAGGGCTGCGAAGGCATCACC c.1800
L L D H G A A V D D P G G Q G C E G I T p.600
. . . . . . g.12643
CCCCTCCACGATGCCCTCAACTGTGGCCACTTCGAGGTGGCTGAGCTGCTGCTTGAACGG c.1860
P L H D A L N C G H F E V A E L L L E R p.620
. . . | 16 . . . g.12778
GGGGCGTCCGTCACCCTCCGCACTCGAAAG | GGCCTCAGCCCGCTGGAGACGCTGCAGCAG c.1920
G A S V T L R T R K | G L S P L E T L Q Q p.640
. . . . . . g.12838
TGGGTGAAGCTGTACCGCAGGGACCTGGACCTGGAGACGCGGCAGAAGGCCAGGGCCATG c.1980
W V K L Y R R D L D L E T R Q K A R A M p.660
. . . | 17 . . . g.13037
GAGATGCTGCTCCAGGCGGCTGCCTCGGGCCAAG | ATCCCCACAGCTCCCAGGCCTTCCAC c.2040
E M L L Q A A A S G Q D | P H S S Q A F H p.680
. . . . . . g.13097
ACCCCAAGCAGCCTTCTGTTTGACCCCGAGACCTCTCCTCCTTTGAGCCCCTGCCCAGAA c.2100
T P S S L L F D P E T S P P L S P C P E p.700
. . . . . . g.13157
CCCCCCTCTAATAGCACTAGACTCCCAGAGGCCTCTCAGGCCCATGTCAGGGTCTCCCCA c.2160
P P S N S T R L P E A S Q A H V R V S P p.720
. . . . . . g.13217
GGGCAGGCGGCACCAGCCATGGCCAGGCCTCGGAGGAGCAGGCATGGGCCAGCCAGCAGC c.2220
G Q A A P A M A R P R R S R H G P A S S p.740
. . . . . . g.13277
AGCAGCAGCTCAGAAGGCGAGGACAGCGCAGGCCCCGCACGGCCGTCCCAGAAGAGGCCT c.2280
S S S S E G E D S A G P A R P S Q K R P p.760
. . . . . . g.13337
CGGTGCTCGGCCACAGCACAACGGGTGGCAGCCTGGACGCCTGGCCCCGCCAGCAACAGG c.2340
R C S A T A Q R V A A W T P G P A S N R p.780
. . . . . . g.13397
GAAGCAGCCACAGCCAGCACCAGCCGGGCAGCCTACCAGGCAGCCATCCGGGGTGTGGGC c.2400
E A A T A S T S R A A Y Q A A I R G V G p.800
. . . . . . g.13457
AGTGCTCAGAGCCGGCTGGGGCCTGGCCCACCGCGGGGCCACAGCAAAGCCCTTGCCCCC c.2460
S A Q S R L G P G P P R G H S K A L A P p.820
. . . . . . g.13517
CAGGCAGCGCTCATCCCGGAGGAGGAGTGCCTGGCCGGGGACTGGCTGGAGCTGGACATG c.2520
Q A A L I P E E E C L A G D W L E L D M p.840
. . . . . . g.13577
CCCCTGACCCGCAGCCGCCGGCCCCGCCCCCGGGGCACTGGAGACAACCGCAGGCCCAGT c.2580
P L T R S R R P R P R G T G D N R R P S p.860
. . . . . . g.13637
AGTACCTCTGGGTCGGACAGTGAGGAGAGCAGGCCCCGTGCCCGAGCCAAGCAGGTCCGC c.2640
S T S G S D S E E S R P R A R A K Q V R p.880
. . . . . . g.13697
CTGACCTGCATGCAGAGTTGCAGTGCGCCAGTTAACGCAGGGCCCAGCAGCCTGGCTTCA c.2700
L T C M Q S C S A P V N A G P S S L A S p.900
. . . . . . g.13757
GAACCTCCAGGGAGCCCCAGCACCCCCAGGGTCTCAGAGCCCAGTGGGGACAGCTCTGCG c.2760
E P P G S P S T P R V S E P S G D S S A p.920
. | 18 . . . . . g.13924
GCAGGCCAGCCCTTG | GGTCCGGCCCCGCCCCCTCCCATCCGGGTTCGAGTTCAAGTTCAG c.2820
A G Q P L | G P A P P P P I R V R V Q V Q p.940
. . . | 19 . . . g.14287
GATCATCTCTTCCTCATCCCTGTCCCACACAG | CAGTGACACCCACTCTGTGGCCTGGCTG c.2880
D H L F L I P V P H S | S D T H S V A W L p.960
. . . . . . g.14347
GCCGAGCAGGCGGCCCAGCGCTACTACCAGACCTGCGGGCTGCTGCCCAGGCTCACCCTA c.2940
A E Q A A Q R Y Y Q T C G L L P R L T L p.980
. . . . . . g.14407
CGGAAAGAGGGGGCCCTGCTGGCCCCACAGGACCTCATCCCTGATGTGCTGCAGAGCAAT c.3000
R K E G A L L A P Q D L I P D V L Q S N p.1000
| 20 . . . . . . g.14594
GACGAG | GTGTTGGCTGAGGTGACTTCGTGGGACCTGCCCCCGTTGACTGACCGCTACCGC c.3060
D E | V L A E V T S W D L P P L T D R Y R p.1020
. . | 21 . . . . g.15185
AGGGCCTGCCAGAGCCTGGGGCAAG | GGGAGCACCAACAGGTGCTGCAGGCCGTGGAGCTC c.3120
R A C Q S L G Q G | E H Q Q V L Q A V E L p.1040
. . . . . . g.15245
CAGGGCTTGGGCCTCTCGTTCAGCGCCTGCTCCCTGGCCCTGGACCAGGCCCAGCTTACA c.3180
Q G L G L S F S A C S L A L D Q A Q L T p.1060
. . . . . . g.15305
CCCCTGCTGCGGGCCCTCAAGCTGCACACAGCACTCCGGGAGCTGCGCCTGGCAGGGAAC c.3240
P L L R A L K L H T A L R E L R L A G N p.1080
. . . . . . g.15365
CGGCTGGGGGACAAGTGTGTGGCTGAGCTGGTGGCTGCCCTGGGCACCATGCCCAGCCTG c.3300
R L G D K C V A E L V A A L G T M P S L p.1100
. . . . . . g.15425
GCCCTCCTTGACCTCTCCTCCAATCACCTGGGTCCCGAAGGCCTGCGCCAGCTTGCCATG c.3360
A L L D L S S N H L G P E G L R Q L A M p.1120
. . | 22. . . . g.15703
GGGCTCCCAGGCCAAGCCACCTTGCAG | AGTTTGGAGGAGCTGGACTTAAGCATGAACCCC c.3420
G L P G Q A T L Q | S L E E L D L S M N P p.1140
. . . . . . g.15763
CTGGGGGACGGCTGTGGCCAGTCCCTGGCCTCCCTCCTGCACGCCTGCCCCTTACTCAGC c.3480
L G D G C G Q S L A S L L H A C P L L S p.1160
. . . . . . g.15823
ACCCTGCGCCTGCAGGCGTGTGGCTTCGGCCCCAGCTTCTTTCTGAGCCACCAGACAGCA c.3540
T L R L Q A C G F G P S F F L S H Q T A p.1180
. | 23 . . . . g.17010
CTGGGTAGTGCTTTCCAAG | ATGCTGAGCACCTGAAGACCCTGTCCCTGTCCTACAACGCC c.3600
L G S A F Q D | A E H L K T L S L S Y N A p.1200
. . . . . . g.17070
CTGGGAGCCCCTGCCCTGGCCAGGACCCTGCAGAGCCTGCCCGCCGGCACCCTCCTGCAC c.3660
L G A P A L A R T L Q S L P A G T L L H p.1220
. . . . . . g.17130
TTAGAGCTCAGCTCCGTGGCAGCCGGCAAGGGTGATTCGGACCTCATGGAGCCTGTATTC c.3720
L E L S S V A A G K G D S D L M E P V F p.1240
. | 24 . . . . . g.18323
CGATACCTGGCCAAG | GAAGGCTGTGCTCTAGCCCACCTGACCCTGTCTGCAAACCACCTG c.3780
R Y L A K | E G C A L A H L T L S A N H L p.1260
. . | 25 . . . g.18923
GGGGACAAGGCTGTTAGAGACCTGTGCAG | ATGTCTCTCTCTGTGCCCCTCACTCATCTCA c.3840
G D K A V R D L C R | C L S L C P S L I S p.1280
. . . . . . g.18983
CTGGATCTGTCTGCCAACCCTGAGATCAGCTGTGCCAGCTTGGAAGAGCTCCTGTCCACC c.3900
L D L S A N P E I S C A S L E E L L S T p.1300
. . . . | 26 . . g.20110
CTCCAAAAGCGGCCCCAAGGCCTTAGCTTCCTTGGCCTGTCAG | GCTGCGCCGTCCAGGGT c.3960
L Q K R P Q G L S F L G L S G | C A V Q G p.1320
. . . . . . g.20170
CCCCTGGGCCTGGGCCTGTGGGACAAGATAGCCGCGCAGCTCCGGGAACTGCAGCTGTGC c.4020
P L G L G L W D K I A A Q L R E L Q L C p.1340
. . . . . . g.20230
AGCAGACGCCTCTGCGCTGAGGACAGGGACGCCCTGCGCCAGCTGCAGCCCAGTCGGCCG c.4080
S R R L C A E D R D A L R Q L Q P S R P p.1360
. . . . . g.20287
GGCCCCGGCGAGTGCACGCTGGACCACGGCTCCAAGCTCTTCTTTCGGCGCCTCTGA c.4137
G P G E C T L D H G S K L F F R R L X p.1378
. . . . . . g.20347
ccctggcgctgcctttccccaccctcaccgaagcccctaataaatgaagctgctggccgg c.*60
. . . . . . g.20407
gcgcggtggctcacgcctgtaatcccaacactttgggaggcccaggcgggcggatcacga c.*120
. . . . . . g.20467
ggtcaggagatcgagaccatcctggctaacatggtgaaaccccgtctctactaaaaatac c.*180
. . . . . . g.20527
caaaaattagccgggcgtggtggtggaagcctgtagtcccagctactccggaggctgagg c.*240
. . . . . . g.20587
caggagaatggcgtgaacccgggaggcggagcttgcagtgagccgagatcgcaccactgc c.*300
. . . . . . g.20647
actccagcctgggcgacagaccgagactccgtctcaaaaaaaaaaaaaaataaaataaat c.*360
g.20650
gaa c.*363
(downstream sequence)
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