(used for variant description)
(last modified July 27, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_025000.3 in the DCAF17 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013038.1, covering DCAF17 transcript NM_025000.3.
(upstream sequence)
. . g.5027
actaggaactacatttcccggtgagag c.-301
. . . . . . g.5087
agcggctccggccggccgcgcggtaccggagcgtcgcactgtcagcggccagagagcctg c.-241
. . . . . . g.5147
gggcagatcgaaaagggagtgcttcttcccttctctccgcgctctggcggtgcaagcggc c.-181
. . . . . . g.5207
tctgctttccctcgccccgccgtcgggtgctccctgcccgcctccccgtgtcagctttcc c.-121
. . . . . . g.5267
ctgggccccgccgggaaagtctgggcctcgaaattcgaaggcagcggcggctgcccagca c.-61
. . . . . . g.5327
cgggagtgtggggcgcgccactcggcggcccagcctacccagggcccggcccgcgcctcc c.-1
. . . . . . g.5387
ATGGGCCCGACCCGGAAGCCCAACGTGTGCAGCCGGCTGAGTCGCCGGGCGCTGGGCTGC c.60
M G P T R K P N V C S R L S R R A L G C p.20
. . . . . . g.5447
TTCTCGCGCGACGCAGGCGTGGTGCAGAGGACCAACCTGGGCATCCTGCGGGCGCTGGTG c.120
F S R D A G V V Q R T N L G I L R A L V p.40
| 02 . . . . . . g.5886
TGCCAG | GAAAGTACTAAATTTAAGAATGTCTGGACAACTCATTCCAGGTCACCTATAGCC c.180
C Q | E S T K F K N V W T T H S R S P I A p.60
. . . . . | 03 . g.14282
TATGAGAGAGGAAGAATATATTTTGACAATTATCGGCGCTGTGTCAGCAG | TGTTGCATCT c.240
Y E R G R I Y F D N Y R R C V S S | V A S p.80
. . . . . . g.14342
GAGCCAAGAAAACTTTATGAAATGCCAAAATGTTCCAAATCAGAAAAAATAGAGGATGCT c.300
E P R K L Y E M P K C S K S E K I E D A p.100
. . | 04 . . . . g.19469
TTATTATGGGAATGCCCAGTG | GGAGATATACTTCCCAATTCATCAGATTATAAGTCCTCA c.360
L L W E C P V | G D I L P N S S D Y K S S p.120
. . . . . . g.19529
CTCATAGCACTGACTGCTCATAATTGGCTACTTCGTATATCAGCAACTACGGGAAAAATC c.420
L I A L T A H N W L L R I S A T T G K I p.140
. . . | 05 . . g.20650
CTTGAGAAAATATATCTTGCACCTTATTGCAAATTCAG | ATACTTGAGCTGGGACACTCCT c.480
L E K I Y L A P Y C K F R | Y L S W D T P p.160
. . . . . | 06. g.23876
CAAGAAGTCATTGCAGTTAAGTCAGCTCAGAACAGAGGCTCAGCAGTGGCCCGGCAG | GCA c.540
Q E V I A V K S A Q N R G S A V A R Q | A p.180
. . . . . . g.23936
GGCATTCAACAACATGTTTTGCTGTACCTTGCAGTGTTCCGAGTTCTACCTTTTTCACTT c.600
G I Q Q H V L L Y L A V F R V L P F S L p.200
. . | 07. . . . g.28753
GTAGGGATTCTAGAGATCAACAAAAAG | ATTTTTGGGAACGTTACAGATGCTACCTTGTCT c.660
V G I L E I N K K | I F G N V T D A T L S p.220
. . . . . . g.28813
CATGGAATACTGATTGTGATGTACAGCTCAGGACTGGTCAGACTCTATAGCTTCCAAACC c.720
H G I L I V M Y S S G L V R L Y S F Q T p.240
. | 08 . . . . . g.29169
ATCGCTGAACAG | TTCATGCAACAGAAACTTGACTTAGGGTGTGCATGCAGATGGGGTGGG c.780
I A E Q | F M Q Q K L D L G C A C R W G G p.260
. . . . . | 09 g.39639
ACTACTGGAACTGTAGGAGAGGCTCCTTTTGGCATTCCTTGTAATATTAAAATCACAG | AC c.840
T T G T V G E A P F G I P C N I K I T D | p.280
. . . . . . g.39699
ATGCCACCACTGCTCTTTGAGGTGTCATCCCTGGAGAATGCTTTTCAGATTGGAGGCCAT c.900
M P P L L F E V S S L E N A F Q I G G H p.300
. . . . . . g.39759
CCTTGGCACTACATCGTCACACCTAATAAGAAGAAACAGAAAGGAGTTTTCCATATTTGT c.960
P W H Y I V T P N K K K Q K G V F H I C p.320
. . | 10 . . . . g.44654
GCCCTAAAAGACAATTCCCTG | GCAAAAAATGGGATCCAAGAAATGGATTGTTGTTCTCTA c.1020
A L K D N S L | A K N G I Q E M D C C S L p.340
. . . . . . g.44714
GAATCTGACTGGATCTATTTCCATCCTGATGCTTCTGGTAGAATAATACATGTTGGTCCA c.1080
E S D W I Y F H P D A S G R I I H V G P p.360
. | 11 . . . . . g.47658
AATCAAGTCAA | AGTTTTGAAGCTAACTGAAATAGAAAATAATAGTTCTCAGCATCAGATC c.1140
N Q V K | V L K L T E I E N N S S Q H Q I p.380
. . . . | 12 . . g.48754
TCTGAAGATTTTGTCATTTTGGCCAACAGGGAGAACCATAAA | AATGAAAATGTACTCACT c.1200
S E D F V I L A N R E N H K | N E N V L T p.400
. . . . . . g.48814
GTTACAGCTTCTGGACGGGTGGTAAAAAAAAGTTTTAACCTTCTGGATGATGACCCAGAA c.1260
V T A S G R V V K K S F N L L D D D P E p.420
| 13 . . . . . . g.50841
CAAGAG | ACTTTCAAAATTGTGGACTATGAAGATGAGTTAGATTTGCTTTCTGTGGTAGCT c.1320
Q E | T F K I V D Y E D E L D L L S V V A p.440
. . . . . . g.50901
GTTACTCAAATAGATGCTGAAGGAAAAGCTCACCTGGATTTCCACTGTAATGAATATGGA c.1380
V T Q I D A E G K A H L D F H C N E Y G p.460
. . . . | 14 . . g.51741
ACTTTACTTAAAAGCATTCCACTAGTGGAGTCATGGGATGTG | ACATATAGCCATGAAGTC c.1440
T L L K S I P L V E S W D V | T Y S H E V p.480
. . . . . . g.51801
TACTTTGACAGAGACTTGGTGCTACACATAGAGCAGAAACCCAACAGAGTCTTCAGCTGC c.1500
Y F D R D L V L H I E Q K P N R V F S C p.500
. . . . . . g.51861
TATGTTTACCAGATGATATGTGACACTGGGGAAGAAGAAGAAACCATAAACAGAAGCTGT c.1560
Y V Y Q M I C D T G E E E E T I N R S C p.520
g.51864
TAA c.1563
X p.520
. . . . . . g.51924
aaagagtgagataattgtaacctaagagacttttagccaaacaccccagcagctgcgtcc c.*60
. . . . . . g.51984
aatccattttattatctgcatggcacattctccagtattttccaaaaaagtcttgtgttg c.*120
. . . . . . g.52044
acttcagatgactatgacttcttttttaaactcttgctgtaaaagatggtgaggacttca c.*180
. . . . . . g.52104
ttttttttaaaggttttttagaatactgttccaagaagtttagtgttttgcagctttgag c.*240
. . . . . . g.52164
ctaggtggtaatgcaaatataaaatgctgggaacagaaaaggacaggttaattccaattg c.*300
. . . . . . g.52224
ttgaggagttaagtcattgatggggtgggtcattgatgagttcttaaaggatggtatgga c.*360
. . . . . . g.52284
attttgtttgttaaggctaggaaagacagggagagacaaaagtaaacatgcagaaagaaa c.*420
. . . . . . g.52344
tcttatatcctctataccaaactttgcttaaggatgagaaatgagatgtgttatgtgaga c.*480
. . . . . . g.52404
acattattttgagcccaaaatgtgtcatcacagtttttaaaaatcttatatatgtattta c.*540
. . . . . . g.52464
tatgtgtttcgtatttgtatatagtatcaggaattggttctagttcccaaattatctttt c.*600
. . . . . . g.52524
cttccttggttttgttctcttggcttgatgttcacattgaatatttgtgtttctatatag c.*660
. . . . . . g.52584
gctaatgtaaaagattccaagcaaaccttaagtgaaattgttttctgatttgcatcctgt c.*720
. . . . . . g.52644
ttagctcttaatgtatctaaggatgttctcatctcaccattctactcatttagtgagttt c.*780
. . . . . . g.52704
tctgatcttgtttaggcaatatttgcatacttatgcaataagataaaggtacccttgcct c.*840
. . . . . . g.52764
gcagtagttctgtttcctgtagaaaagtggataaagagtcccagaagaagttcttactag c.*900
. . . . . . g.52824
cttgggagttacctgattaaccagagaaaatttttggcttacttatggaacaagcattat c.*960
. . . . . . g.52884
ttcttctttgttaggaaagatctaaatatggtccttgacttttaataatcattctttaga c.*1020
. . . . . . g.52944
atgttaaataaaggcaacccaagtaaagggagaaaatgtttctttgtgcttcctgtttga c.*1080
. . . . . . g.53004
gaaattcagttgcttccatttcgcatgttctgcacatttatccgatgtaacctcaaaaga c.*1140
. . . . . . g.53064
ataactggtaataagggaaggaaacagcagcaacaatcattgctgattcaagtttaaggt c.*1200
. . . . . . g.53124
taaaatatggaatttttagcttggatgatttatattaaaatctttccattttttttttca c.*1260
. . . . . . g.53184
gttttggcttgatgccatgttaagaatgatgtgaattcttcccagttctgccctggtgct c.*1320
. . . . . . g.53244
agacattgccccatactttcaattagacactagctgtatctaaatagtcccactcagtaa c.*1380
. . . . . . g.53304
acttacatcttgaaaaacaagaccagtaagaggccagtgaaagtactaaagaaagaaacc c.*1440
. . . . . . g.53364
aatgttgtgtgagtttcaaagcagctgcaatgctgtgtaaaagtagagtgttcattctcc c.*1500
. . . . . . g.53424
atttccaagagtgtttcagaataggatgtcttaagacttcagtcatgtcagagatttttt c.*1560
. . . . . . g.53484
tttttaggtgattattgagtttctccttctcctttaagtcatcaccttccttttatgaaa c.*1620
. . . . . . g.53544
tgatagtaaggaactcgtctattctgaaaggcatttgagaaatagctgaattcctggctg c.*1680
. . . . . . g.53604
cttttttgctgggggtagatggtggaatacttctggtctagatataacttaccactaaga c.*1740
. . . . . . g.53664
aacccccagtatgtcaccactgcctaaatctaactagaccagggtccaaatgccatccag c.*1800
. . . . . . g.53724
gccaggcaggaaatatacctcatgtgaaagacagtaaggagttgtgggcagtgtaacaaa c.*1860
. . . . . . g.53784
caggagagctatgccccaactaaaaggagcagctgctactgcttagtttcagccagttgc c.*1920
. . . . . . g.53844
aacagtatgtgggaatgtaggctgcatggttgttaacaagatagatggtaaaaagatgcc c.*1980
. . . . . . g.53904
agaagatacagaagatagcaaagaatgtggggaatttggataccacacatagcgagagac c.*2040
. . . . . . g.53964
aatgaagcatgcttcccagctcgccagagtgtcacacagctgctcattctgccacctgcc c.*2100
. . . . . . g.54024
agacattaatgtcttcctgccctacctaaaccccctctttacctgatattttaattcgag c.*2160
. . . . . . g.54084
actctagctacatgcccacctacttaacaggtactagtgacaggtacaaaacattatggg c.*2220
. . . . . . g.54144
taacaattctgagtgtttaatgcaagcccaggtgaagcagggtagcttccatcagcaggt c.*2280
. . . . . . g.54204
acagacgttacgctgaaaagaggtgcattctgcattgcactcctggatctaagtttctgc c.*2340
. . . . . . g.54264
attctcagagcatcaatgcagcaagcttattgttcctcaattttttacaatatttatcac c.*2400
. . . . . . g.54324
aactctgggagaaaacaaaacaaatcctatcctatttactatttgtgctacctagtgagg c.*2460
. . . . . . g.54384
agataccgctctgtttagacaaattaaggcacttcacattcttccaccaattgaaagttt c.*2520
. . . . . . g.54444
tgtatcttacagttctttttttaaataatatatttattgagcactttctatctactagtc c.*2580
. . . . . . g.54504
actgtgatacagtataagtaaagtgggttgtctcatttaatattcagaataaccacatga c.*2640
. . . . . . g.54564
agtatgaactgccattatctttcccctttgtacaaatgaggaaagtgaggctcacagaag c.*2700
. . . . . . g.54624
ttaattggcccagggtcccacaactagtcagtgcagaggtgggaaacataaccagatttg c.*2760
. . . . . . g.54684
ttcggcatgaacttgtgccaaatttcctccaaagttctcaaaaggcaaggcatgttattt c.*2820
. . . . . . g.54744
tatcccaatttagcataccaacaactataatactagatatgtaggaaagtgcttaataat c.*2880
. . . . . . g.54804
cgttttttactgatgattcagtgtctaaattttgaacaaatttgggtaagatacaagtca c.*2940
. . . . . . g.54864
cacataaattgacagaaaatgtagttcttcattcaatggttagcagtcattaaaaggtac c.*3000
. . . . . . g.54924
tttccctttgtttgtggtgataatcagtattagtagttttcatattatttggcttccata c.*3060
. . . . . . g.54984
ttaatcatttttatattttcttctccttcttaccatgtttacttatatcatccatctttt c.*3120
. . . . . . g.55044
agaatcccagggagctaatttctggtccctgtgttgctatcaaatctgtatcttgcagaa c.*3180
. . . . . . g.55104
agaataatttatttcaaacaagggacatacaatagaaagataagacctactgaggtcttt c.*3240
. . . . . . g.55164
ttcccatcattttattatgaaaaatgttcaaacatacagtaaaattgaaagaattttata c.*3300
. . . . . . g.55224
gtaaatactgaccacggggattctacatcttactctacttgttttattattttcctatcc c.*3360
. . . . . . g.55284
agcgtactttttgatggatttcaaaataaattgcagttgctgatatacttccccctagta c.*3420
. . . . . . g.55344
cttcaactgcagattattaactagagtttagtatttatttagtttttaaatttttttgat c.*3480
. . . . . . g.55404
ttaagatttacctgcaataaaatgtacaaatcttaagtataaatttactgagttcttgca c.*3540
. . . . . . g.55464
gacatatacacctgtgtaacccaaaccctttccaaaatttagaccattgcaatcatcttc c.*3600
. . . . . . g.55524
agaaagtttcctaaatccctctcccagtctatcccctccccacccctcaggtataactac c.*3660
. . . . . . g.55584
tgttctcattcttttatatcaaaggttaaatttacctgttctaaacttcatatgagtgaa c.*3720
. . . . . . g.55644
attatacaaaatgtaatgcttctttcacttagcataatgtttttgagatttattcatgtt c.*3780
. . . . . . g.55704
gttgcatgtgtcagtgattcatttctttttattgctgagtattctttcgtatgaatatat c.*3840
. . . . . . g.55764
cacagtttgtttttttatctttctgttgatggacactgggctctttctgcttgtttttta c.*3900
. . . g.55802
ctgttatgaataaagctgctatgaacattcttagacaa c.*3938
(downstream sequence)
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