(used for variant description)
(last modified November 1, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_138459.3 in the NUS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_054913.1, covering NUS1 transcript NM_138459.3.
(upstream sequence)
. . . g.5037
atcggaactgtccatgtactactgggggcggggctgc c.-181
. . . . . . g.5097
caagggaggaggaagatggcggcgggggcgaggtgaggtgttggcagtggaaaggggttc c.-121
. . . . . . g.5157
gggctcggggggcggggggacgcggagcgatggcccgcgccggccgcaggggcggataaa c.-61
. . . . . . g.5217
aagccgtcgcgctgcgggagtgggcgggagggagagggggtgtctgagggccacaagagt c.-1
. . . . . . g.5277
ATGACGGGGCTGTACGAGCTGGTGTGGCGGGTGCTGCACGCGCTGCTCTGTCTGCACCGC c.60
M T G L Y E L V W R V L H A L L C L H R p.20
. . . . . . g.5337
ACGCTCACCTCCTGGCTCCGCGTTCGGTTCGGCACCTGGAACTGGATCTGGCGGCGCTGC c.120
T L T S W L R V R F G T W N W I W R R C p.40
. . . . . . g.5397
TGCCGCGCCGCCTCTGCCGCGGTCCTAGCGCCGCTCGGCTTCACGCTCCGCAAGCCCCCG c.180
C R A A S A A V L A P L G F T L R K P P p.60
. . . . . . g.5457
GCAGTCGGCAGGAACCGCCGTCACCACCGGCACCCGCGCGGGGGGTCGTGCCTGGCAGCC c.240
A V G R N R R H H R H P R G G S C L A A p.80
. . . . . . g.5517
GCACACCACCGGATGCGCTGGCGCGCGGACGGTCGTTCCTTGGAGAAGCTGCCTGTGCAT c.300
A H H R M R W R A D G R S L E K L P V H p.100
. . . . . . g.5577
ATGGGCCTGGTGATCACCGAGGTGGAGCAGGAACCCAGCTTCTCGGACATCGCGAGCCTC c.360
M G L V I T E V E Q E P S F S D I A S L p.120
. . . . . | 02 . g.22593
GTGGTGTGGTGTATGGCCGTGGGCATCTCCTACATTAGCGTCTACGACCACCAAG | GTATT c.420
V V W C M A V G I S Y I S V Y D H Q G | I p.140
. . . . . . g.22653
TTCAAAAGAAATAATTCCAGATTGATGGATGAAATTTTAAAACAACAGCAAGAACTTCTG c.480
F K R N N S R L M D E I L K Q Q Q E L L p.160
. . . . . . g.22713
GGCCTAGATTGTTCAAAATACTCACCAGAATTTGCAAATAGTAATGACAAAGATGATCAA c.540
G L D C S K Y S P E F A N S N D K D D Q p.180
| 03 . . . . . . g.23636
G | TTTTAAATTGCCATTTGGCAGTGAAGGTGCTGTCTCCGGAAGATGGAAAAGCAGATATT c.600
V | L N C H L A V K V L S P E D G K A D I p.200
. . . . . . g.23696
GTAAGAGCTGCTCAGGACTTTTGCCAGTTAGTAGCCCAGAAGCAAAAGAGACCCACAGAT c.660
V R A A Q D F C Q L V A Q K Q K R P T D p.220
. . . | 04 . . . g.33180
TTGGATGTAGATACGTTAGCCAGTTTACTTA | GTTCAAATGGTTGTCCTGATCCTGATTTA c.720
L D V D T L A S L L S | S N G C P D P D L p.240
. . . . . . g.33240
GTATTGAAGTTCGGTCCTGTGGACAGCACATTAGGCTTTCTTCCCTGGCACATCAGATTG c.780
V L K F G P V D S T L G F L P W H I R L p.260
. | 05 . . . . . g.36520
ACTGAGATTGT | CTCTTTGCCTTCCCACCTAAACATCAGTTATGAGGACTTTTTCTCTGCC c.840
T E I V | S L P S H L N I S Y E D F F S A p.280
. . . . g.36562
CTTCGTCAATATGCAGCCTGTGAACAGCGTCTGGGAAAGTAG c.882
L R Q Y A A C E Q R L G K X p.293
. . . . . . g.36622
tggtcattggttgcataatttgatttgaggcttgtggaggaaaggaaccaagtgactctg c.*60
. . . . . . g.36682
atgtttacaaagcacctatgaaaccctgtacacacctagttcataatcctcataatttat c.*120
. . . . . . g.36742
caacaaacacaaaaaagtgtcttacttgagagtgagtgtgtgtgtgtgcgtgtgcacgtg c.*180
. . . . . . g.36802
cacacatgtgcacgtttgtatgtatggaaataaacttataaatggggacgtattggagaa c.*240
. . . . . . g.36862
ggaaatacatagacctacaactttgagcaaatagcagtgatgttttaggaactgaaatgt c.*300
. . . . . . g.36922
cacacttaaagtcttcagcccagctacttccctatttttgtggggagaagagggcctgat c.*360
. . . . . . g.36982
tagaactgttctggttgtgtttggcgggaggggaataatttttgttcagtccttcttagt c.*420
. . . . . . g.37042
gaccaaactttaatttttaagaataatatattgacttactgaactgaagcattctgagtt c.*480
. . . . . . g.37102
gaaaggagctccagaggagtggagttctgtgttgctcacatgttaaaatcttgctcacct c.*540
. . . . . . g.37162
tcagagcagagggaatacctatcttcagatatccgtccattttcatctcttaattgtagt c.*600
. . . . . . g.37222
caaaagtatgacttgagagtgttgctctggtattctgggttctgaagtctggtattctgg c.*660
. . . . . . g.37282
tattctgggttcaaaagtatgacttgagagtgttgctctggtattctgagagttgctctg c.*720
. . . . . . g.37342
tattctgggttctgaagattatttgaaaaataactcctactacattgaaatgcagactta c.*780
. . . . . . g.37402
aaaatttaaacattggattaggcagtcaaaaaaaccaagcaagcataaaaggtcaataag c.*840
. . . . . . g.37462
ttgtaatcttgatagtaaaggtggaaaacttattataaatggaaagaaagttttatttcc c.*900
. . . . . . g.37522
ttttttgtttgatgggcagtatgccatattatacccaaagttcttttaaaaaatatttcc c.*960
. . . . . . g.37582
atcaaccatttttatttaaaataaacatttgagggaagttaccaaggcagcttttttcct c.*1020
. . . . . . g.37642
caaaagtaacctgttcctctttggaatagcacattttaggggcatggttaatacctgaga c.*1080
. . . . . . g.37702
tttttactcagtaaatcctgatggttactgtgtgtaaaatatctttaagtaggattgaag c.*1140
. . . . . . g.37762
gcctctgtgggggaataaaatattaccaaagtctataaaaataaattttacatgttctct c.*1200
. . . . . . g.37822
tttatgacagagagcagcactggttctgttatttttaaaatgaataattgatttcttgat c.*1260
. . . . . . g.37882
aggtgtttaatatttcttccctcactgctgattcttagatagaaaccattctttatattt c.*1320
. . . . . . g.37942
gatagactgctttcagaaaacccttatcaacaagtgtacaatacttatctaaaactatac c.*1380
. . . . . . g.38002
atttagaatggagcagtttaatactagatctcagaagttttgaaaaatagcaaagaagac c.*1440
. . . . . . g.38062
tggatttggaaagcatggtctacaattggttgttaaattctgaagctatgaagaataaat c.*1500
. . . . . . g.38122
gtttcaactttggattatgaaaccccatttatgattttttaaatacacttgaaataaaaa c.*1560
. . . . . . g.38182
tgattaaactaaattttggtccagtgacattactttgcactgcataatccattatacgtt c.*1620
. . . . . . g.38242
gtacgactttttttttttgttttaatttattactgagagttttgtgtgaagctacagcat c.*1680
. . . . . . g.38302
atctaaccagagaatttctgattccttatactgtgattatattatattgaggcatttgta c.*1740
. . . . . . g.38362
gtgcagctgaagactgaatttatgccttttgtaaacatgataggtataaatgtcttataa c.*1800
. . . . . . g.38422
acattctggagtatgtatagctttaatgaatgaaatttaatggacctgattaaaatgaag c.*1860
. . . . . . g.38482
ggatttaatcgttgttaaagttaagttagtcaaataaattacctactggaatatagccca c.*1920
. . . . . . g.38542
agccagtaaaggtttaatatttgcattttcgtgcttttattttctccttccattcataag c.*1980
. . . . . . g.38602
tatatacttgaaagtacatctgtagcctatgatttgagtctcttgaagttctaggaagag c.*2040
. . . . . . g.38662
gcaaactacaaactactaggattctgatttcagatgtagtcattccagaaccttctcttt c.*2100
. . . . . . g.38722
atgagttcacctgctagtacaatctccacaacttgaatggcattggttgttctgtaattc c.*2160
. . . . . . g.38782
ctgccaaaagcatcacaagttgtacatcatcaaggctccctttgcactcccaagaagaac c.*2220
. . . . . . g.38842
tggtaattttaaacaaaagtatgtgtctttatttgtattggaaaatactgtctttaaatt c.*2280
. . . . . . g.38902
gtttcttgttgacactccccacaatggaaaaattaccgaattaaacctgttttatggatg c.*2340
. . . . . . g.38962
gcagcttggagcatagcaagaagttggaggatttgaattccattcccagttctcattgtg c.*2400
. . . . . . g.39022
ttttgtttcttaaaactataataatcggttactgttataaagtttaaaaggtggttttaa c.*2460
. . . . . . g.39082
tgtgaatagcaaattctggtatatcgtgactaacgcttaagaatgcctgtctttgagagg c.*2520
. . . . . . g.39142
aaggtgttataatattaatgaacagtgccaaatacactgtgcatatctgcaatttaatct c.*2580
. . . . . . g.39202
ttgaatgtatgttactggattagctccctcctcctgtgtgatggtaccatgcatagagtc c.*2640
. . . . . . g.39262
aatcaaatccttgtgatgttttgtatggactttgacaatatgtaaataatgtgtaaagcc c.*2700
. . . . . . g.39322
agtttttatgattaaggaatcaaatttattgaattttattattgaaagttgaaacttaac c.*2760
. . . . . . g.39382
atgtatgaacaaaaaccaataaaagaatatactcttttcattgactatagtattatgtga c.*2820
. . . . . . g.39442
atgctacatttgttctgaacacttaggggctgcaaaaatgtaataagaaatgcatatgac c.*2880
. . . . . . g.39502
tagatagcaatagtgttttttttagatggtatgctcttgattgaaatatattctcacttt c.*2940
. . . . . . g.39562
taccaggttaaacatttggaatcttataatgttacttgctttttgatagataatagtgaa c.*3000
. . . . . . g.39622
ataaattcagctttgccattgctggagttgtcaaaattccacagtaattaaaatttgaat c.*3060
. . . . . . g.39682
ttttaccgaatatgaaatttccaaattaaaaacgtatatgtgtactcttttaaaaaggaa c.*3120
. . . . . . g.39742
tttgatagttcttgtcaaatgagaaaatttaaaggtaagagttatggtttgtcttatgct c.*3180
. . . . . . g.39802
gcatagactattcacctcctaacttgaaggtctaatcataagacaattgtttttttgtgc c.*3240
. . . . . . g.39862
atagttttcatctaaaattaagtttaccaaaggcaaataactgcttactaggaacttcct c.*3300
. . . . . . g.39922
ttagcaaaaattactataaagttcaggacagtttgaaataaaacccaggaaacaagatta c.*3360
. . . . . . g.39982
atgtgagcagttctccaagatcctaactggtgggacataaactatgatgcaatggatagg c.*3420
. . . . . . g.40042
aaaaggtagtgcaaaaagaatttcttaaggtttaaaaaatacacttttcattataggaaa c.*3480
. . . . . . g.40102
aagaagattcagagaaacaaaggaatgtaaccttattgattacatttttggtgatcaccg c.*3540
. . . . . . g.40162
agaattttttgtactatattttaaaaaatgtattctactgtaacaagttaataaagagat c.*3600
. . . . . . g.40222
tttttaaaaaactataaactagaaattgagagtcttgcattctcttttgtatttgattat c.*3660
. . . . . g.40274
tgtgtctggatataaattacaatagcacatgaaaataaaatgttttaaaaaa c.*3712
(downstream sequence)
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