(used for variant description)
(last modified January 13, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_006676.6 in the USP20 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033097.1, covering USP20 transcript NM_006676.6.
(upstream sequence)
. . . g.5031
ccagacggccccacaaccctgcgcgtcgcct c.-181
. . . . . . | 02 g.19404
cagagggggcgcgcttgactgacaggcggcggcggcgcagttgcgagtgcag | gctccttg c.-121
. . . . . . g.19464
ccagaggcctccactcactccagacccctatagcccgtcgctgtcagctgtcaacaaagg c.-61
. . . . . | 03 . g.22139
atgcgaatgctggccgcttcctgtgggcttcgtgtcacccagag | gtgagcccaggccagg c.-1
. . . . . . g.22199
ATGGGGGACTCCAGGGACCTTTGCCCTCACCTTGACTCCATAGGAGAGGTGACCAAAGAG c.60
M G D S R D L C P H L D S I G E V T K E p.20
. . | 04 . . . . g.25929
GACTTGCTGCTCAAATCTAAG | GGAACCTGTCAGTCGTGTGGGGTCACCGGACCAAACCTA c.120
D L L L K S K | G T C Q S C G V T G P N L p.40
. | 05 . . . . . g.27678
TGGGCCTGTCTGCAG | GTTGCCTGCCCCTATGTTGGCTGCGGAGAATCCTTTGCTGACCAC c.180
W A C L Q | V A C P Y V G C G E S F A D H p.60
. | 06 . . . . g.28092
AGCACCATTCATGCACAG | GCAAAAAAGCACAACTTGACCGTGAACCTGACCACGTTCCGA c.240
S T I H A Q | A K K H N L T V N L T T F R p.80
. . . . . . g.28152
CTGTGGTGTTACGCCTGTGAGAAGGAGGTATTCCTGGAGCAGCGGCTGGCAGCCCCTCTG c.300
L W C Y A C E K E V F L E Q R L A A P L p.100
. . . | 07 . . . g.30550
CTGGGCTCCTCTTCCAAGTTCTCTGAACAG | GACTCCCCGCCACCCTCCCACCCTCTGAAA c.360
L G S S S K F S E Q | D S P P P S H P L K p.120
. . . . . . g.30610
GCTGTTCCTATTGCTGTGGCTGATGAAGGAGAGTCTGAGTCAGAGGACGATGACCTGAAA c.420
A V P I A V A D E G E S E S E D D D L K p.140
| 08. . . . . . g.31179
CCTCGAG | GCCTCACGGGCATGAAGAACCTCGGGAACTCCTGCTACATGAACGCTGCCCTG c.480
P R G | L T G M K N L G N S C Y M N A A L p.160
. | 09. . . . . g.32812
CAGGCCCTGTCCAATTG | CCCGCCGCTGACTCAGTTCTTCTTGGAGTGTGGCGGCCTGGTG c.540
Q A L S N C | P P L T Q F F L E C G G L V p.180
. . . . . . g.32872
CGCACAGATAAGAAGCCAGCCCTGTGCAAGAGCTACCAGAAGCTGGTCTCTGAGGTCTGG c.600
R T D K K P A L C K S Y Q K L V S E V W p.200
. | 10 . . . . . g.34935
CATAAGAAACG | GCCAAGCTACGTGGTCCCCACCAGTCTGTCTCATGGGATCAAGTTGGTC c.660
H K K R | P S Y V V P T S L S H G I K L V p.220
. . . | 11 . . . g.37618
AACCCAATGTTCCGAGGCTATGCCCAGCAG | GACACCCAAGAGTTCCTTCGCTGCCTGATG c.720
N P M F R G Y A Q Q | D T Q E F L R C L M p.240
. . . . . . g.37678
GACCAGCTGCACGAGGAGCTCAAGGAGCCGGTGGTGGCCACGGTGGCGCTGACGGAGGCT c.780
D Q L H E E L K E P V V A T V A L T E A p.260
. . . . . . g.37738
CGGGACTCAGATTCGAGTGACACGGATGAGAAACGGGAGGGTGACCGGAGCCCATCAGAA c.840
R D S D S S D T D E K R E G D R S P S E p.280
. . . . . . g.37798
GATGAGTTCTTGTCCTGTGACTCGAGCAGTGACCGGGGTGAGGGTGACGGGCAGGGGCGT c.900
D E F L S C D S S S D R G E G D G Q G R p.300
. . . . . . g.37858
GGCGGGGGCAGCTCGCAGGCCGAGACGGAGCTGCTGATCCCAGATGAGGCGGGCCGAGCC c.960
G G G S S Q A E T E L L I P D E A G R A p.320
. . . . . . g.37918
ATCTCTGAGAAGGAGCGGATGAAGGACCGCAAGTTCTCCTGGGGCCAGCAGCGTACAAAC c.1020
I S E K E R M K D R K F S W G Q Q R T N p.340
. . . . . . g.37978
TCGGAGCAAGTGGACGAGGACGCTGATGTGGACACTGCCATGGCTGCCCTTGACGACCAG c.1080
S E Q V D E D A D V D T A M A A L D D Q p.360
. . . . . | 12 . g.38450
CCCGCGGAGGCCCAGCCCCCGTCACCACGGTCCTCCAGCCCCTGCCGGACGCCAG | AGCCG c.1140
P A E A Q P P S P R S S S P C R T P E | P p.380
. . . . . . g.38510
GACAATGATGCTCACCTACGCAGCTCCTCTCGCCCCTGCAGCCCCGTCCACCACCACGAG c.1200
D N D A H L R S S S R P C S P V H H H E p.400
. . . . . . g.38570
GGCCATGCCAAGCTGTCTAGCAGCCCCCCTCGTGCAAGCCCCGTGAGGATGGCACCGTCG c.1260
G H A K L S S S P P R A S P V R M A P S p.420
. | 13 . . . . . g.38937
TACGTGCTCAAGAAAG | CCCAGGTATTGAGTGCTGGCAGCCGGAGGCGGAAGGAGCAGCGC c.1320
Y V L K K A | Q V L S A G S R R R K E Q R p.440
. . . . . . g.38997
TACCGCAGCGTCATCTCAGACATCTTTGACGGCTCCATTCTCAGCCTTGTGCAGTGTCTC c.1380
Y R S V I S D I F D G S I L S L V Q C L p.460
. | 14 . . . . . g.39303
ACCTGTGACCGG | GTATCCACCACAGTGGAAACGTTCCAGGACTTATCACTGCCCATTCCT c.1440
T C D R | V S T T V E T F Q D L S L P I P p.480
. . . . . . g.39363
GGAAAGGAGGACCTGGCCAAGCTCCATTCAGCCATCTACCAGAATGTGCCGGCCAAGCCA c.1500
G K E D L A K L H S A I Y Q N V P A K P p.500
. . . . . . g.39423
GGCGCCTGTGGGGACAGCTATGCCGCCCAGGGCTGGCTGGCCTTCATTGTGGAGTACATC c.1560
G A C G D S Y A A Q G W L A F I V E Y I p.520
| 15 . . . . . . g.40091
CGACG | GTTTGTGGTATCCTGTACCCCCAGCTGGTTTTGGGGGCCTGTCGTCACCCTGGAA c.1620
R R | F V V S C T P S W F W G P V V T L E p.540
. . . . | 16 . . g.43085
GACTGCCTTGCTGCCTTCTTTGCCGCTGATGAGTTAAAGG | GTGACAACATGTACAGCTGT c.1680
D C L A A F F A A D E L K G | D N M Y S C p.560
. | 17 . . . . . g.43328
GAGCGGTGTAAGAA | GCTGCGGAACGGAGTGAAGTACTGCAAAGTCCTGCGGTTGCCCGAG c.1740
E R C K K | L R N G V K Y C K V L R L P E p.580
| 18 . . . . . . g.44219
| ATCCTGTGCATTCACCTAAAGCGCTTTCGGCACGAGGTGATGTACTCATTCAAGATCAAC c.1800
| I L C I H L K R F R H E V M Y S F K I N p.600
. . . . . . g.44279
AGCCACGTCTCCTTCCCCCTCGAGGGGCTCGACCTGCGCCCCTTCCTTGCCAAGGAGTGC c.1860
S H V S F P L E G L D L R P F L A K E C p.620
. . . . . . g.44339
ACATCCCAGATCACCACCTACGACCTCCTCTCGGTCATCTGCCACCACGGCACGGCAGGC c.1920
T S Q I T T Y D L L S V I C H H G T A G p.640
| 19 . . . . . . g.44471
A | GTGGGCACTACATCGCCTACTGCCAGAACGTGATCAATGGGCAGTGGTACGAGTTTGAT c.1980
S | G H Y I A Y C Q N V I N G Q W Y E F D p.660
. . . . . . g.44531
GACCAGTACGTCACAGAAGTCCACGAGACGGTGGTGCAGAACGCCGAGGGCTACGTACTC c.2040
D Q Y V T E V H E T V V Q N A E G Y V L p.680
| 20 . . . . . g.44945
TTCTACAG | GAAGAGCAGCGAGGAGGCCATGCGGGAGCGACAGCAGGTGGTGTCCCTGGCC c.2100
F Y R | K S S E E A M R E R Q Q V V S L A p.700
. . . . . . g.45005
GCCATGCGGGAGCCCAGCCTGCTGCGGTTCTACGTGTCCCGCGAGTGGCTCAACAAGTTC c.2160
A M R E P S L L R F Y V S R E W L N K F p.720
. . . . . | 21 g.45145
AACACCTTCGCGGAGCCAGGCCCCATCACCAACCAGACCTTCCTCTGCTCCCACGGAG | GC c.2220
N T F A E P G P I T N Q T F L C S H G G | p.740
. . . . . . g.45205
ATCCCGCCCCACAAATACCACTACATCGACGACCTGGTGGTCATCCTGCCCCAGAACGTC c.2280
I P P H K Y H Y I D D L V V I L P Q N V p.760
. . | 22 . . . . g.45753
TGGGAGCACCTGTACAACAG | ATTCGGGGGTGGCCCCGCCGTGAACCACCTGTACGTGTGC c.2340
W E H L Y N R | F G G G P A V N H L Y V C p.780
. . . . . . g.45813
TCCATCTGCCAGGTGGAGATCGAGGCACTGGCCAAGCGCAGGAGGATCGAGATCGACACC c.2400
S I C Q V E I E A L A K R R R I E I D T p.800
| 23 . . . . . g.47972
TTCATCAAG | TTGAACAAGGCCTTCCAGGCCGAGGAGTCGCCGGGCGTCATCTACTGCATC c.2460
F I K | L N K A F Q A E E S P G V I Y C I p.820
. . . . . | 24 . g.49164
AGCATGCAGTGGTTCCGGGAGTGGGAGGCGTTCGTCAAGGGGAAGGACAACG | AGCCCCCC c.2520
S M Q W F R E W E A F V K G K D N E | P P p.840
. . . . . . g.49224
GGGCCCATTGACAACAGCAGGATTGCACAGGTCAAAGGAAGCGGCCATGTCCAGCTGAAG c.2580
G P I D N S R I A Q V K G S G H V Q L K p.860
| 25 . . . . . . g.49752
CAGG | GAGCTGACTACGGGCAGATTTCGGAGGAGACCTGGACCTACCTGAACAGCCTGTAT c.2640
Q G | A D Y G Q I S E E T W T Y L N S L Y p.880
. . . . . . g.49812
GGAGGTGGCCCCGAGATTGCCATCCGCCAGAGTGTGGCGCAGCCGCTGGGCCCAGAGAAC c.2700
G G G P E I A I R Q S V A Q P L G P E N p.900
. . . . g.49857
CTGCACGGGGAGCAGAAGATCGAAGCCGAGACGCGGGCCGTGTGA c.2745
L H G E Q K I E A E T R A V X p.914
. . . . . . g.49917
tctgctgggctagtctgtaagtcgccccggctggtccctccatggcactctgggtcctct c.*60
. . . . . . g.49977
cctcactctccagagaccctcacatgtccttttgaacatccaaagagcaggtccctgaaa c.*120
. . . . . . g.50037
gcaccttcctggaggatgtgggagggccctggacatggcccggccccactgctgagtgcc c.*180
. . . . . . g.50097
cgtgtccccacagccccatgtgccccaccccgcggaaggcgtgtttgtgcccagaagaga c.*240
. . . . . . g.50157
ggccgggctgctgcagaaccccgccgtgtaaagaggcagaaaagttggtttggtttgcag c.*300
. . . . . . g.50217
taacgctgcaactagaaaatatatgcacttcaggcttgttgaaacgaccaagactctgtg c.*360
. . . . . . g.50277
acgttaatttgggtctttgtcctggcagtgcctctgccagtcactgtcatcgttgtgtcc c.*420
. . . . . . g.50337
cccacaactgtcctcttgctagctcggcccagctttgtccctggagcccgatgctacccc c.*480
. . . . . . g.50397
tgtcagacagaggctgcggcctgggccagagtcagggagtagctgctgcttcacggcgtc c.*540
. . . . . . g.50457
tccactgtgcgattggcccggagccccgaagactcggagggagctgctcagggccggtga c.*600
. . . . . . g.50517
gcgcagccagaagccctggccagtgaggagctcacaggtcctccctggtggtcccgccgc c.*660
. . . . . . g.50577
acctctgcatctcctgggcgtcaccaggaaggctctgaagtcccgggctgctctcagcac c.*720
. . . . . . g.50637
ttctcctgcagactgaagactctggactcattgctgattggaacaccaggaggaggttgg c.*780
. . . . . . g.50697
atttctgccagtgggggatgtttctggaggcagctggtcccccacaccgcgtcctgctga c.*840
. . . . . . g.50757
gcctgccccctggattggctgtaatttgcctcgaagttcagcagttcatcttcatgggaa c.*900
. . . . . . g.50817
atttgctgagcccccaccagggaaccggatgatgaaacagggatacctcacagcttggcc c.*960
. . . . . . g.50877
atttgaggcaaaggcagcttcccgagctgatgctaaagaagacagactttcccttcctcc c.*1020
. . . . . . g.50937
cagcagcagcagtgcagagcccacctggagggatgtgggggctgtgcagggtgcagcgct c.*1080
. . . . . . g.50997
caggtggatcctgggaagcagcctctggatgctgagtggagggagccactgagcacagca c.*1140
. . . . . . g.51057
aggcaccaaagcccctggagaaaccgccagggcgaggtgcgaccatcatcaggatcaaag c.*1200
. . . . . . g.51117
cagacggggcgtgggtggggaaggggctctgggaccagaccccccacactactgcgtctt c.*1260
. . . . . . g.51177
tgtttctatcagtctttgtagaagcaggtggtggtggaaattccagcaggtgggtcccgc c.*1320
. . . . . . g.51237
agaggccctgaggcctcacttttcggatcttctgtcccagatcctgctccctccctgctg c.*1380
. . . . . . g.51297
agcctggggttcccctggcattggccccagccttctgaaagccggcgctgcagccagagg c.*1440
. . . . . . g.51357
ccgcacgctgcactgtcgcgacgcagagaggcttctgtgcaggctgggatcgggccccat c.*1500
. . . . . g.51412
gtctgtgctgtctagtttgtgttcaaaatgtcagaataaacacagaataaatgtt c.*1555
(downstream sequence)
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