(used for variant description)
(last modified June 11, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_014264.4 in the PLK4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_041821.1, covering PLK4 transcript NM_014264.4.
(upstream sequence)
. . . g.5034
agcctatccggagcgatccatctcgttacgtcac c.-241
. . . . . . g.5094
caccagcctagctcggacggcaagcggcgggagattttcaaaatgggagcccagaggcac c.-181
. . . . . . g.5154
cgcccaggcctcggaaggtgtcagggagaactttccgtggtttcagcgtcgtcgcctgga c.-121
. . . . . . g.5214
gcggcggtttagagagccgagcctgatgggcgccaaggccggctggctgcttggagcgct c.-61
. . . . . . g.5274
gcctcgaagggactgcgtgaaggaagctaatccggagaacccaggccagagcctggaaat c.-1
. . . | 02 . . . g.6000
ATGGCGACCTGCATCGGGGAGAAGATCGAG | GATTTTAAAGTTGGAAATCTGCTTGGTAAA c.60
M A T C I G E K I E | D F K V G N L L G K p.20
. . . . . . g.6060
GGATCATTTGCTGGTGTCTACAGAGCTGAGTCCATTCACACTGGTTTGGAAGTTGCAATC c.120
G S F A G V Y R A E S I H T G L E V A I p.40
| 03 . . . . . . g.7455
AAAATG | ATAGATAAGAAAGCCATGTACAAAGCAGGAATGGTACAGAGAGTCCAAAATGAG c.180
K M | I D K K A M Y K A G M V Q R V Q N E p.60
. . . . | 04 . . g.7596
GTGAAAATACATTGCCAATTGAAACATCCTTCTATCTTGGAG | CTTTATAACTATTTTGAA c.240
V K I H C Q L K H P S I L E | L Y N Y F E p.80
. . . . . . g.7656
GATAGCAATTATGTGTATCTGGTATTAGAAATGTGCCATAATGGAGAAATGAACAGGTAT c.300
D S N Y V Y L V L E M C H N G E M N R Y p.100
. . . | 05. . . g.9870
CTAAAGAATAGAGTGAAACCCTTCTCAGAAAATGAAG | CTCGACACTTCATGCACCAGATC c.360
L K N R V K P F S E N E A | R H F M H Q I p.120
. . . . . . g.9930
ATCACAGGGATGTTGTATCTTCATTCTCATGGTATACTACACCGGGACCTCACACTTTCT c.420
I T G M L Y L H S H G I L H R D L T L S p.140
. . . . . . g.9990
AACCTCCTACTGACTCGTAATATGAACATCAAGATTGCTGATTTTGGGCTGGCAACTCAA c.480
N L L L T R N M N I K I A D F G L A T Q p.160
. . . . . . g.10050
CTGAAAATGCCACATGAAAAGCACTATACATTATGTGGAACTCCTAACTACATTTCACCA c.540
L K M P H E K H Y T L C G T P N Y I S P p.180
. . . . . . g.10110
GAAATTGCCACTCGAAGTGCACATGGCCTTGAATCTGATGTTTGGTCCCTGGGCTGTATG c.600
E I A T R S A H G L E S D V W S L G C M p.200
. . . . . . g.10170
TTTTATACATTACTTATCGGGAGACCACCCTTCGACACTGACACAGTCAAGAACACATTA c.660
F Y T L L I G R P P F D T D T V K N T L p.220
. . . . . . g.10230
AATAAAGTAGTATTGGCAGATTATGAAATGCCATCTTTTTTGTCAATAGAGGCCAAGGAC c.720
N K V V L A D Y E M P S F L S I E A K D p.240
. . . . . . g.10290
CTTATTCACCAGTTACTTCGTAGAAATCCAGCAGATCGTTTAAGTCTGTCTTCAGTATTG c.780
L I H Q L L R R N P A D R L S L S S V L p.260
. . . . . . g.10350
GACCATCCTTTTATGTCCCGAAATTCTTCAACAAAAAGTAAAGATTTAGGAACTGTGGAA c.840
D H P F M S R N S S T K S K D L G T V E p.280
. . . . . . g.10410
GACTCAATTGATAGTGGGCATGCCACAATTTCTACTGCAATTACAGCTTCTTCCAGTACC c.900
D S I D S G H A T I S T A I T A S S S T p.300
. . . . . . g.10470
AGTATAAGTGGTAGTTTATTTGACAAAAGAAGACTTTTGATTGGTCAGCCACTCCCAAAT c.960
S I S G S L F D K R R L L I G Q P L P N p.320
. . . . . . g.10530
AAAATGACTGTATTTCCAAAGAATAAAAGTTCAACTGATTTTTCTTCTTCAGGAGATGGA c.1020
K M T V F P K N K S S T D F S S S G D G p.340
. . . . . . g.10590
AACAGTTTTTATACTCAGTGGGGAAATCAAGAAACCAGTAATAGTGGAAGGGGAAGAGTA c.1080
N S F Y T Q W G N Q E T S N S G R G R V p.360
. . . . . . g.10650
ATTCAAGATGCAGAAGAAAGGCCACATTCTCGATACCTTCGTAGAGCTTATTCCTCTGAT c.1140
I Q D A E E R P H S R Y L R R A Y S S D p.380
. . . . . . g.10710
AGATCTGGCACTTCTAATAGTCAGTCTCAAGCAAAAACATATACAATGGAACGATGTCAC c.1200
R S G T S N S Q S Q A K T Y T M E R C H p.400
. . . . . . g.10770
TCAGCAGAAATGCTTTCAGTGTCCAAAAGATCAGGAGGAGGTGAAAATGAAGAGAGGTAC c.1260
S A E M L S V S K R S G G G E N E E R Y p.420
. . . . . . g.10830
TCACCCACAGACAACAATGCCAACATTTTTAACTTCTTTAAAGAAAAGACATCCAGTAGT c.1320
S P T D N N A N I F N F F K E K T S S S p.440
. . . | 06 . . g.11557
TCTGGATCTTTTGAAAGACCTGATAACAATCAAGCACT | CTCCAATCATCTTTGTCCAGGA c.1380
S G S F E R P D N N Q A L | S N H L C P G p.460
. . . . . . g.11617
AAAACTCCTTTTCCATTTGCAGACCCGACACCTCAGACTGAAACCGTACAACAGTGGTTT c.1440
K T P F P F A D P T P Q T E T V Q Q W F p.480
. | 07 . . . . g.14046
GGGAATCTGCAAATAAATG | CTCATTTAAGAAAAACTACTGAATATGACAGCATCAGCCCA c.1500
G N L Q I N A | H L R K T T E Y D S I S P p.500
. . . . . . g.14106
AACCGGGACTTCCAGGGCCATCCAGATTTGCAGAAGGACACATCAAAAAATGCCTGGACT c.1560
N R D F Q G H P D L Q K D T S K N A W T p.520
. . . . . . g.14166
GATACAAAAGTCAAAAAGAACTCTGATGCTTCTGATAATGCACATTCTGTAAAACAGCAA c.1620
D T K V K K N S D A S D N A H S V K Q Q p.540
. . . . . . g.14226
AATACCATGAAATATATGACTGCACTTCACAGTAAACCTGAGATAATCCAACAAGAATGT c.1680
N T M K Y M T A L H S K P E I I Q Q E C p.560
. . . . . . g.14286
GTTTTTGGCTCAGATCCTCTTTCTGAACAGAGCAAGACTAGGGGTATGGAGCCACCATGG c.1740
V F G S D P L S E Q S K T R G M E P P W p.580
. . . . . . g.14346
GGTTATCAGAATCGTACATTAAGAAGCATTACATCTCCGTTGGTTGCTCACAGGTTAAAA c.1800
G Y Q N R T L R S I T S P L V A H R L K p.600
. . . | 08 . . . g.15261
CCAATCAGACAGAAAACCAAAAAGGCTGTG | GTGAGCATACTTGATTCAGAGGAGGTGTGT c.1860
P I R Q K T K K A V | V S I L D S E E V C p.620
. . . . . . g.15321
GTGGAGCTTGTAAAGGAGTATGCATCTCAAGAATATGTGAAAGAAGTTCTTCAGATATCT c.1920
V E L V K E Y A S Q E Y V K E V L Q I S p.640
. | 09 . . . . . g.15763
AGTGATGGAAATACG | ATCACTATTTATTATCCAAATGGTGGTAGAGGTTTTCCTCTTGCT c.1980
S D G N T | I T I Y Y P N G G R G F P L A p.660
. . . . . | 10 g.16506
GATAGACCACCCTCACCTACTGACAACATCAGTAGGTACAGCTTTGACAATTTACCAG | AA c.2040
D R P P S P T D N I S R Y S F D N L P E | p.680
. . . . . . g.16566
AAATACTGGCGAAAATATCAATATGCTTCCAGGTTTGTACAGCTTGTAAGATCTAAATCT c.2100
K Y W R K Y Q Y A S R F V Q L V R S K S p.700
. . . . . . g.16626
CCCAAAATCACTTATTTTACAAGATATGCTAAATGCATTTTGATGGAGAATTCTCCTGGT c.2160
P K I T Y F T R Y A K C I L M E N S P G p.720
. . | 11 . . . g.17456
GCTGATTTTGAGGTTTGGTTTTATGATG | GGGTAAAAATACACAAAACAGAAGATTTCATT c.2220
A D F E V W F Y D G | V K I H K T E D F I p.740
. . . . . . g.17516
CAGGTGATTGAAAAGACAGGGAAGTCTTACACTTTAAAAAGTGAAAGTGAAGTTAATAGC c.2280
Q V I E K T G K S Y T L K S E S E V N S p.760
. . . . | 12 . . g.17670
TTGAAAGAGGAGATAAAAATGTATATGGACCATGCTAATGAG | GGTCATCGTATTTGTTTA c.2340
L K E E I K M Y M D H A N E | G H R I C L p.780
. . . . . . g.17730
GCACTGGAATCCATAATTTCAGAAGAGGAAAGGAAAACTAGGAGTGCTCCCTTTTTCCCA c.2400
A L E S I I S E E E R K T R S A P F F P p.800
. | 13 . . . . . g.17919
ATAATCATAGGAAG | AAAACCTGGTAGTACTAGTTCACCTAAGGCCTTATCACCTCCTCCT c.2460
I I I G R | K P G S T S S P K A L S P P P p.820
. . . . . . g.17979
TCTGTGGATTCAAATTACCCAACGAGAGAGAGAGCATCTTTCAACAGAATGGTCATGCAT c.2520
S V D S N Y P T R E R A S F N R M V M H p.840
. . . . | 14 . . g.19110
AGTGCTGCTTCTCCAACACAGGCACCAATCCTTAATCCCTCT | ATGGTTACAAATGAAGGA c.2580
S A A S P T Q A P I L N P S | M V T N E G p.860
. . . . . . g.19170
CTTGGTCTTACAACTACAGCTTCTGGAACAGACATCTCTTCTAATAGTCTAAAAGATTGT c.2640
L G L T T T A S G T D I S S N S L K D C p.880
. . . . . . g.19230
CTTCCTAAATCAGCACAACTTTTGAAATCTGTTTTTGTGAAAAATGTTGGTTGGGCTACA c.2700
L P K S A Q L L K S V F V K N V G W A T p.900
| 15 . . . . . . g.20997
CAG | TTAACTAGTGGAGCTGTGTGGGTTCAGTTTAATGATGGGTCCCAGTTGGTTGTGCAG c.2760
Q | L T S G A V W V Q F N D G S Q L V V Q p.920
. . . . . | 16 . g.22588
GCAGGAGTGTCTTCTATCAGTTATACCTCACCAAATGGTCAAACAACTAG | GTATGGAGAA c.2820
A G V S S I S Y T S P N G Q T T R | Y G E p.940
. . . . . . g.22648
AATGAAAAATTACCAGACTACATCAAACAGAAATTACAGTGTCTGTCTTCCATCCTTTTG c.2880
N E K L P D Y I K Q K L Q C L S S I L L p.960
. . . g.22681
ATGTTTTCTAATCCGACTCCTAATTTTCATTGA c.2913
M F S N P T P N F H X p.970
. . . . . . g.22741
ttaaaactcctttcagacatataagtttaataaataacttttttgttgactttcaagtaa c.*60
. . . . . . g.22801
agtgattttttttaatttaacataaagtcttcagaaagcctttctatgaaagaattttaa c.*120
. . . . . . g.22861
cctataatgtaaaggatgtattctgagagaacaaagcagaatgaaacttgagtcacttac c.*180
. . . . . . g.22921
taaatatagtggatataaaatagaacacctgactttgctcttagaccataacccccgaac c.*240
. . . . . . g.22981
ttactatgttcatatatttgtattgaacaatcttttaaaagcaaaaatgtaaatgatgtg c.*300
. . . . . . g.23041
tagtttatttgtgcttttattgttttccctgcgtctcagacatgttgagaatcatggaca c.*360
. . . . . . g.23101
aaacctgctggaattttggaatttttgaagatgtaaataatgtgtatttatgttataagt c.*420
. . . . . . g.23161
aacatatgtaaacatgtatatttgttttatatttatttttgtaacaccagtgtctgatga c.*480
. . . . . . g.23221
aacatttttgcaaatgcattttataaaaaaataaatatagtgataagttacattatcttt c.*540
. . . . . . g.23281
tgattcatttaattaaatacttatttttaaataacttaccagtaaactcactttttaaat c.*600
. . . . . . g.23341
tttgttgcctgttgaggagccaattaaattttaaatattaattttgcaaatgttaaatac c.*660
. . g.23364
attgtttctctattatctgaaaa c.*683
(downstream sequence)
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