(used for variant description)
(last modified March 1, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_018117.11 in the WDR11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023290.1, covering WDR11 transcript NM_018117.11.
(upstream sequence)
g.5006
agcaca c.-241
. . . . . . g.5066
accgcctaagcggcggaactctggagagtgcggaacctaggatcctaggaaactgaaggc c.-181
. . . . . . g.5126
aacggaacctgggggcgatggaatccgggagcggtggaacccggagcctgtagaacttga c.-121
. . . . . . g.5186
atctagaggaacctgacagcggcgccgagggggccacccggactctgtttggaacggaag c.-61
. . . . . . g.5246
cacagtgtccgccgcttcctggttgcgggtcagcgcccaggtcctgggctggccgccggg c.-1
. . . . . . g.5306
ATGTTGCCCTACACAGTGAACTTCAAGGTGTCGGCGCGCACCCTCACGGGGGCCCTCAAC c.60
M L P Y T V N F K V S A R T L T G A L N p.20
. . | 02 . . . . g.6383
GCCCACAACAAGGCGGCGGTGGACTG | GGGCTGGCAAGGTTTAATTGCTTATGGATGTCAT c.120
A H N K A A V D W | G W Q G L I A Y G C H p.40
. . . . . . g.6443
TCACTTGTGGTAGTGATTGATTCCATTACTGCCCAAACTCTTCAAGTTTTAGAAAAGCAT c.180
S L V V V I D S I T A Q T L Q V L E K H p.60
. | 03 . . . . g.12510
AAAGCTGATGTTGTAAAG | GTTAAATGGGCCAGGGAAAACTATCACCATAACATTGGCTCA c.240
K A D V V K | V K W A R E N Y H H N I G S p.80
. . . . . . g.12570
CCATATTGCTTACGGTTAGCTTCTGCTGATGTCAATGGGAAGATCATCGTCTGGGATGTA c.300
P Y C L R L A S A D V N G K I I V W D V p.100
. . . . . | 04 . g.13942
GCAGCAGGAGTAGCTCAGTGTGAGATCCAAGAGCATGCCAAGCCTATCCAGG | ATGTTCAG c.360
A A G V A Q C E I Q E H A K P I Q D | V Q p.120
. . . . . . g.14002
TGGTTGTGGAATCAAGATGCTTCCCGCGATTTACTGCTTGCTATCCACCCGCCAAATTAC c.420
W L W N Q D A S R D L L L A I H P P N Y p.140
. . . . . . g.14062
ATTGTGCTCTGGAATGCCGACACTGGCACCAAACTATGGAAGAAGAGCTATGCAGATAAC c.480
I V L W N A D T G T K L W K K S Y A D N p.160
. . . . | 05 . . g.16574
ATTCTTTCTTTTTCTTTTGACCCTTTTGATCCCTCACATTTAACTT | TGCTTACCAGCGAG c.540
I L S F S F D P F D P S H L T L | L T S E p.180
. . . . . . g.16634
GGTATTGTTTTCATCTCAGACTTCTCCCCATCCAAGCCTCCCTCAGGCCCTGGGAAAAAA c.600
G I V F I S D F S P S K P P S G P G K K p.200
. . . . . . g.16694
GTTTACATATCCAGCCCACACTCTAGCCCAGCTCATAACAAGCTGGCCACAGCCACAGGT c.660
V Y I S S P H S S P A H N K L A T A T G p.220
. . . . . | 06 . g.18879
GCCAAGAAAGCTCTAAATAAAGTAAAAATTTTAATCACTCAAGAGAAACCTAG | TGCTGAA c.720
A K K A L N K V K I L I T Q E K P S | A E p.240
. . . . . . g.18939
TTCATAACTCTCAATGATTGCCTTCAGTTGGCATACCTGCCTTCAAAAAGGAATCACATG c.780
F I T L N D C L Q L A Y L P S K R N H M p.260
. . . . . . g.18999
TTGTTGCTCTATCCTCGAGAGATTTTAATCCTTGACCTTGAGGTGAATCAGACGGTGGGT c.840
L L L Y P R E I L I L D L E V N Q T V G p.280
. . . | 07 . . g.19476
GTGATTGCAATAGAACGCACAGGAGTTCCATTTTTACAG | GTAATACCCTGCTTTCAGCGT c.900
V I A I E R T G V P F L Q | V I P C F Q R p.300
. . . . . . g.19536
GATGGTTTATTTTGTCTACATGAAAATGGTTGTATAACTTTACGTGTTCGAAGATCTTAT c.960
D G L F C L H E N G C I T L R V R R S Y p.320
. . . | 08 . . . g.20420
AATAACATTTTTACCACTTCAAATGAGGAACCAG | ATCCAGATCCAGTTCAGGAGCTTACC c.1020
N N I F T T S N E E P D | P D P V Q E L T p.340
. . . . . . g.20480
TATGATTTACGAAGCCAGTGTGATGCAATCAGGGTGACAAAAACCGTCCGTCCCTTCAGT c.1080
Y D L R S Q C D A I R V T K T V R P F S p.360
. . . . . . g.20540
ATGGTGTGCTGTCCTGTCAATGAGAATGCAGCCGCCCTCGTAGTGAGTGATGGCAGGGTC c.1140
M V C C P V N E N A A A L V V S D G R V p.380
. . . . . | 09 . g.20901
ATGATATGGGAACTCAAGTCTGCAGTTTGTAATCGAAATTCACGGAACAG | TAGTTCTGGT c.1200
M I W E L K S A V C N R N S R N S | S S G p.400
. . . . . . g.20961
GTGTCACCTTTATATTCACCAGTGTCTTTCTGTGGAATTCCTGTAGGAGTGCTACAGAAT c.1260
V S P L Y S P V S F C G I P V G V L Q N p.420
. . . | 10 . . . g.25021
AAACTCCCAGACCTTTCCTTAGATAACATGATTG | GGCAAAGTGCAATTGCTGGGGAAGAA c.1320
K L P D L S L D N M I G | Q S A I A G E E p.440
. . . . . . g.25081
CATCCCAGAGGTTCAATTCTGCGGGAAGTGCACCTCAAGTTCCTGCTGACGGGACTGCTT c.1380
H P R G S I L R E V H L K F L L T G L L p.460
. . . . . . g.25141
TCAGGACTGCCCGCACCACAGTTTGCTATTCGTATGTGTCCACCGTTGACCACAAAAAAC c.1440
S G L P A P Q F A I R M C P P L T T K N p.480
. . . | 11 . . . g.27693
ATCAAGATGTATCAGCCACTGCTGGCTGTTG | GTACAAGTAATGGTTCTGTCCTGGTGTAC c.1500
I K M Y Q P L L A V G | T S N G S V L V Y p.500
. . . . . | 12 . g.32182
CATCTCACCAGTGGTCTGCTACACAAAGAGTTAAGCATCCACTCATGTGAAGTCAA | GGGT c.1560
H L T S G L L H K E L S I H S C E V K | G p.520
. . . . . . g.32242
ATTGAATGGACAAGTTTGACTAGTTTTCTTTCTTTTGCTACCTCAACACCAAACAATATG c.1620
I E W T S L T S F L S F A T S T P N N M p.540
. . . . | 13 . . g.34668
GGATTAGTGAGAAATGAACTTCAACTGGTTGATCTTCCAACAG | GTAGGAGCATTGCTTTT c.1680
G L V R N E L Q L V D L P T G | R S I A F p.560
. . . . . | 14 g.37606
CGTGGTGAAAGAGGCAATGATGAATCTGCCATCGAAATGATTAAAGTATCTCATTTGAA | G c.1740
R G E R G N D E S A I E M I K V S H L K | p.580
. . . . . . g.37666
CAGTATTTGGCAGTCGTATTCAGAGATAAACCCCTGGAGCTATGGGATGTTAGGACTTGT c.1800
Q Y L A V V F R D K P L E L W D V R T C p.600
. . . . | 15 . g.39651
ACCCTTCTTAGAGAGATGTCCAAAAACTTCCCTACAATAACTGCTTTG | GAGTGGTCACCA c.1860
T L L R E M S K N F P T I T A L | E W S P p.620
. . . . . . g.39711
TCTCACAACTTGAAGAGCCTGAGAAAGAAGCAACTTGCAACTCGAGAGGCCATGGCCCGC c.1920
S H N L K S L R K K Q L A T R E A M A R p.640
. . . . . | 16 . g.40521
CAGACCGTAGTCTCAGACACAGAGCTGAGTATTGTTGAATCATCTGTGATCAG | CTTGCTG c.1980
Q T V V S D T E L S I V E S S V I S | L L p.660
. . . . . . g.40581
CAGGAGGCAGAAAGTAAATCTGAACTTAGTCAGAACATCTCTGCCCGGGAACATTTTGTA c.2040
Q E A E S K S E L S Q N I S A R E H F V p.680
. . . . . . g.40641
TTTACCGATATTGATGGCCAAGTGTATCATCTCACTGTTGAAGGAAACTCAGTAAAAGAC c.2100
F T D I D G Q V Y H L T V E G N S V K D p.700
. . | 17 . . . . g.42942
AGTGCTCGGATTCCACCAGAT | GGAAGTATGGGTAGTATTACCTGCATCGCTTGGAAAGGT c.2160
S A R I P P D | G S M G S I T C I A W K G p.720
. . . . . . g.43002
GATACATTAGTGCTTGGAGATATGGATGGAAATTTAAATTTCTGGGACTTGAAAGGCAGA c.2220
D T L V L G D M D G N L N F W D L K G R p.740
| 18 . . . . . g.43772
GTATCCAG | AGGAATACCCACACACCGAAGTTGGGTGAGGAAGATTCGTTTTGCTCCTGGT c.2280
V S R | G I P T H R S W V R K I R F A P G p.760
. . . . . . g.43832
AAAGGAAATCAAAAATTAATAGCAATGTACAATGATGGAGCTGAAGTGTGGGATACTAAA c.2340
K G N Q K L I A M Y N D G A E V W D T K p.780
| 19 . . . . . . g.44598
GAG | GTTCAGATGGTGAGCAGTTTAAGAAGTGGCAGAAATGTGACCTTTCGTATATTGGAT c.2400
E | V Q M V S S L R S G R N V T F R I L D p.800
. . . . . . g.44658
GTGGACTGGTGTACGTCAGATAAAGTGATCTTGGCCTCAGATGATGGGTGCATCAGAGTC c.2460
V D W C T S D K V I L A S D D G C I R V p.820
. . . . . | 20 . g.53859
CTAGAGATGTCTATGAAGTCTGCGTGCTTTAGAATGGATGAACAAGAGTTAACCG | AGCCT c.2520
L E M S M K S A C F R M D E Q E L T E | P p.840
. . . . . . g.53919
GTGTGGTGCCCCTATCTCCTTGTTCCAAGGGCCTCTCTTGCCTTGAAAGCCTTCTTATTA c.2580
V W C P Y L L V P R A S L A L K A F L L p.860
. . . . | 21 . . g.54877
CACCAGCCTTGGAATGGACAGTATTCTTTGGACATTTCTCATGT | TGACTATCCAGAAAAT c.2640
H Q P W N G Q Y S L D I S H V | D Y P E N p.880
. . . . | 22. . g.56095
GAAGAAATAAAGAATCTCCTCCAAGAACAGTTGAATTCATTGTCTAA | TGACATAAAGAAA c.2700
E E I K N L L Q E Q L N S L S N | D I K K p.900
. . . . . | 23 . g.56887
CTGTTGCTTGATCCAGAATTCACTCTCTTGCAGAGGTGCCTGCTTGTTTCAAG | GCTCTAT c.2760
L L L D P E F T L L Q R C L L V S R | L Y p.920
. . . . . . g.56947
GGTGATGAATCGGAGCTGCACTTCTGGACTGTCGCTGCCCACTACCTGCACAGCTTATCC c.2820
G D E S E L H F W T V A A H Y L H S L S p.940
. . . . . . g.57007
CAGGAAAAGTCAGCCAGCACAACAGCTCCTAAAGAAGCTGCTCCTCGAGACAAACTGAGC c.2880
Q E K S A S T T A P K E A A P R D K L S p.960
. . . . . | 24 . g.57881
AACCCACTGGATATATGCTATGACGTGCTCTGTGAAAATGCCTACTTTCAG | AAATTTCAG c.2940
N P L D I C Y D V L C E N A Y F Q | K F Q p.980
. . . . . . g.57941
CTAGAAAGGGTTAATCTGCAGGAAGTGAAACGGTCAACTTATGATCATACAAGGAAATGT c.3000
L E R V N L Q E V K R S T Y D H T R K C p.1000
. . | 25. . . . g.58504
ACAGACCAGCTACTGCTCTTGGGTCAA | ACAGACAGAGCTGTGCAGTTGCTGTTGGAAACA c.3060
T D Q L L L L G Q | T D R A V Q L L L E T p.1020
. . . . . . g.58564
AGTGCAGATAACCAGCATTATTACTGTGATTCACTGAAAGCCTGTTTAGTCACTACTGTC c.3120
S A D N Q H Y Y C D S L K A C L V T T V p.1040
. . . . . . g.58624
ACCTCGTCAGGCCCCTCTCAGAGCACCATTAAGTTGGTGGCAACGAATATGATTGCCAAT c.3180
T S S G P S Q S T I K L V A T N M I A N p.1060
. | 26 . . . . . g.59191
GGCAAATTGGCAG | AGGGCGTTCAGTTGCTCTGCCTGATAGATAAGGCTGCAGACGCCTGC c.3240
G K L A E | G V Q L L C L I D K A A D A C p.1080
. . . . . | 27 . g.59710
CGCTACCTGCAGACATACGGCGAGTGGAATCGGGCTGCATGGCTGGCAAAA | GTCCGTTTG c.3300
R Y L Q T Y G E W N R A A W L A K | V R L p.1100
. . . . . . g.59770
AATCCTGAGGAGTGTGCCGATGTTTTAAGGCGGTGGGTTGACCACCTTTGTTCTCCACAA c.3360
N P E E C A D V L R R W V D H L C S P Q p.1120
. . . . . . g.59830
GTCAATCAGAAATCAAAGGCTCTCCTGGTTCTCCTCTCTCTGGGCTGCTTTTTTAGCGTG c.3420
V N Q K S K A L L V L L S L G C F F S V p.1140
. | 28. . . . . g.60644
GCAGAGACGCTTCACAG | CATGAGATACTTTGATAGAGCAGCCTTATTTGTGGAAGCTTGC c.3480
A E T L H S | M R Y F D R A A L F V E A C p.1160
. . . | 29. . . g.62404
CTCAAGTATGGAGCATTTGAAGTCACTGAGGACACAG | AGAAACTCATCACTGCTATATAT c.3540
L K Y G A F E V T E D T E | K L I T A I Y p.1180
. . . . . . g.62464
GCAGATTATGCCCGGAGTTTGAAGAACCTCGGTTTTAAGCAGGGAGCAGTTCTCTTTGCT c.3600
A D Y A R S L K N L G F K Q G A V L F A p.1200
. . . . . . g.62524
TCAAAAGCCGGAGCAGCTGGCAAAGACTTATTGAATGAGCTTGAGTCCCCCAAGGAAGAA c.3660
S K A G A A G K D L L N E L E S P K E E p.1220
. g.62539
CCCATTGAAGAGTGA c.3675
P I E E X p.1224
. . . . . . g.62599
cagcttaataaatgccagggaatctgacctggaaggcagatgggagggggctggtctggc c.*60
. . . . . . g.62659
tgtggccaccgtcacagtccaggatgaagaggagtacagggtcctgtgagctgtttgacc c.*120
. . . . . . g.62719
actgttctaagactatgtgtgcccaaaagcacataagcatctatgttgagagtaagtttg c.*180
. . . . . . g.62779
tatcctgcgttggtctcagaaagaacgtgaatgcttaagattttgaaagtacataatatt c.*240
. . . . . . g.62839
ttatactttgggagagagctttaagagtccctggaaatactttttaatttttttaactta c.*300
. . . . . . g.62899
aaattcaagagactgaatcacttttctcattgattaaatgtaaagattattgagaaacct c.*360
. . . . . . g.62959
atagtaaatgaaatttgtgagatgttttctcaaatatatgctgtgcctgtacttatatac c.*420
. . . . . . g.63019
agtctttcaagagagatacaaacaaggcagaaacatttaaactagtattaaaggtagttt c.*480
. . . . . . g.63079
accaaagcattttttgttttcttaccttgaaaacacagaaccgttaattccttggtttaa c.*540
. . . . . . g.63139
gcagttgctaagttttgtaattttaggctcagaggaccataggaggttttaagatttatg c.*600
. . . . . . g.63199
tttagtccgataggtgaggtctttgatattttgaattttaactccttttatgatacatca c.*660
. . . . . . g.63259
cagtaacctcatttttgaagtctttctttgtactttaatgttctctctgttctaatagtt c.*720
. . . . . . g.63319
gaagtatgagatgtaactattataaactgttgctgaaaacataaatgtctgtaacttaca c.*780
. . . g.63352
aacatgataaataaattaaaaattccatccagg c.*813
(downstream sequence)
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