(used for variant description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_025132.3 in the WDR19 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031813.1, covering WDR19 transcript NM_025132.3.
(upstream sequence)
. . . g.5034
ggcccggcccctcgaggcaccgcctttcaattag c.-121
. . . . . . g.5094
cactcgctgattggtcgctgctcgcgcggtctcctgggtgacgggaacgcggtagcctgc c.-61
. . . . . . g.5154
ttggtggagaccgggtgcgcctgcgtacttcatagttcgcgtagcggctcgagcgtggag c.-1
| 02 . . . . . . g.8376
ATGAAG | CGTATTTTCTCACTGCTAGAAAAGACTTGGCTTGGCGCACCAATACAGTTTGCC c.60
M K | R I F S L L E K T W L G A P I Q F A p.20
. . . | 03 . . g.9157
TGGCAAAAAACATCAGGAAACTACCTTGCAGTAACAGG | AGCTGATTATATTGTGAAAATC c.120
W Q K T S G N Y L A V T G | A D Y I V K I p.40
. . . . | 04 . . g.12268
TTTGATCGCCATGGTCAAAAAAGAAGTGAAATTAACTTACCTGG | TAACTGTGTTGCCATG c.180
F D R H G Q K R S E I N L P G | N C V A M p.60
. . . . . . g.12328
GATTGGGATAAAGATGGAGATGTCCTAGCAGTGATTGCTGAGAAATCTAGCTGCATTTAT c.240
D W D K D G D V L A V I A E K S S C I Y p.80
. . . . . | 05 . g.17150
CTTTGGGATGCCAACACAAATAAGACCAGCCAGTTAGACAATGGCATGAG | GGATCAAATG c.300
L W D A N T N K T S Q L D N G M R | D Q M p.100
. . . . . . g.17210
TCTTTCCTTCTTTGGTCAAAAGTTGGAAGTTTCCTGGCTGTTGGAACTGTTAAAGGAAAT c.360
S F L L W S K V G S F L A V G T V K G N p.120
. . . . | 06 . . g.22088
TTGCTTATTTATAATCATCAGACATCTCGAAAGATTCCTGTCCTTG | GAAAACATACTAAG c.420
L L I Y N H Q T S R K I P V L G | K H T K p.140
. . . . . . g.22148
AGAATCACTTGTGGATGTTGGAATGCAGAAAATCTGCTTGCTTTAGGTGGTGAAGATAAA c.480
R I T C G C W N A E N L L A L G G E D K p.160
. . . . | 07 . . g.26256
ATGATTACAGTTAGTAATCAGGAAGGTGACACGATAAGACAG | ACACAAGTGAGATCAGAG c.540
M I T V S N Q E G D T I R Q | T Q V R S E p.180
. . . . . . g.26316
CCTAGCAACATGCAGTTTTTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGC c.600
P S N M Q F F L M K M D D R T S A A E S p.200
| 08 . . . . . . g.27807
ATG | ATAAGTGTGGTGCTTGGCAAGAAAACTTTGTTTTTTTTAAATCTGAATGAACCAGAT c.660
M | I S V V L G K K T L F F L N L N E P D p.220
. . . . . | 09 . g.28163
AACCCAGCTGATCTTGAATTTCAGCAGGACTTTGGCAACATTGTCTGCTATAATTG | GTAT c.720
N P A D L E F Q Q D F G N I V C Y N W | Y p.240
. . . . . . g.28223
GGTGATGGCCGCATCATGATTGGTTTTTCATGTGGACATTTTGTGGTCATTTCTACTCAT c.780
G D G R I M I G F S C G H F V V I S T H p.260
. . . . . . g.28283
ACTGGAGAGCTTGGTCAAGAGATATTTCAGGCTCGTAACCATAAAGATAATCTAACCAGC c.840
T G E L G Q E I F Q A R N H K D N L T S p.280
. . . . . | 10 . g.37207
ATTGCAGTATCACAGACTCTTAACAAAGTTGCTACATGTGGAGATAACTG | CATTAAAATC c.900
I A V S Q T L N K V A T C G D N C | I K I p.300
. . . . . . g.37267
CAAGACTTGGTTGACTTAAAAGACATGTATGTTATACTCAACCTGGATGAGGAAAATAAA c.960
Q D L V D L K D M Y V I L N L D E E N K p.320
| 11 . . . . . . g.38496
G | GATTGGGTACCTTGTCCTGGACTGATGATGGCCAGTTGCTAGCACTCTCTACCCAAAGG c.1020
G | L G T L S W T D D G Q L L A L S T Q R p.340
. . . . . . g.38556
GGCTCACTTCATGTTTTCCTGACCAAGCTTCCCATACTTGGGGATGCCTGCAGCACAAGG c.1080
G S L H V F L T K L P I L G D A C S T R p.360
. . . . . | 12 . g.38698
ATTGCCTATCTCACCTCCCTCCTTGAAGTCACCGTAGCCAACCCTGTTGAAGGA | GAGCTA c.1140
I A Y L T S L L E V T V A N P V E G | E L p.380
. . . . . . g.38758
CCAATCACAGTTTCTGTTGATGTGGAACCCAACTTTGTGGCAGTAGGTCTTTATCATCTG c.1200
P I T V S V D V E P N F V A V G L Y H L p.400
. . . . | 13 . g.39741
GCTGTAGGAATGAATAATCGAGCTTGGTTTTATGTCCTTGGAGAAAATG | CTGTGAAAAAA c.1260
A V G M N N R A W F Y V L G E N A | V K K p.420
. . . . . . g.39801
TTGAAAGATATGGAGTATCTGGGAACAGTAGCCAGTATTTGCCTTCATTCTGACTATGCT c.1320
L K D M E Y L G T V A S I C L H S D Y A p.440
. . . | 14 . . . g.40603
GCTGCACTTTTTGAAGGCAAAGTCCAGTTACATTTG | ATAGAAAGCGAAATCTTGGATGCT c.1380
A A L F E G K V Q L H L | I E S E I L D A p.460
. . . . . . g.40663
CAAGAAGAACGTGAGACTCGGCTTTTCCCAGCAGTGGATGATAAGTGCCGTATCTTATGC c.1440
Q E E R E T R L F P A V D D K C R I L C p.480
. . . | 15 . . g.47501
CATGCCTTAACTAGTGATTTCCTCATCTATGGTACAGAT | ACTGGTGTCGTTCAGTATTTC c.1500
H A L T S D F L I Y G T D | T G V V Q Y F p.500
. . . . . . g.47561
TACATTGAAGACTGGCAATTCGTTAATGATTATCGACATCCTGTCAGTGTGAAAAAGATT c.1560
Y I E D W Q F V N D Y R H P V S V K K I p.520
. . . . . . g.47621
TTTCCCGACCCAAATGGGACCAGATTAGTTTTCATTGATGAAAAAAGTGATGGATTTGTT c.1620
F P D P N G T R L V F I D E K S D G F V p.540
| 16 . . . . . g.50857
TACTGTCCA | GTCAATGACGCTACCTATGAGATTCCAGATTTTTCACCAACCATTAAAGGT c.1680
Y C P | V N D A T Y E I P D F S P T I K G p.560
. . . . . . g.50917
GTTCTTTGGGAAAACTGGCCAATGGATAAAGGTGTATTTATTGCTTATGATGATGATAAG c.1740
V L W E N W P M D K G V F I A Y D D D K p.580
. . . | 17. . . g.51105
GTGTACACTTATGTCTTTCACAAGGACACTATACAAG | GAGCCAAGGTTATTTTGGCTGGT c.1800
V Y T Y V F H K D T I Q G | A K V I L A G p.600
. . . . . . g.51165
AGCACCAAAGTTCCTTTTGCTCATAAACCTTTGCTGCTATATAATGGAGAGCTGACCTGC c.1860
S T K V P F A H K P L L L Y N G E L T C p.620
. . . . . . g.51225
CAAACACAGAGTGGAAAAGTAAACAACATCTACCTTAGCACCCATGGCTTTCTCAGCAAC c.1920
Q T Q S G K V N N I Y L S T H G F L S N p.640
. . . . . . g.51285
TTAAAAGATACGGGGCCTGACGAACTGAGACCAATGCTGGCACAGAATTTAATGCTAAAG c.1980
L K D T G P D E L R P M L A Q N L M L K p.660
| 18 . . . . . . g.54451
AG | GTTTTCTGATGCTTGGGAAATGTGCAGGATTCTGAATGATGAGGCTGCCTGGAATGAG c.2040
R | F S D A W E M C R I L N D E A A W N E p.680
. . . . . . g.54511
TTGGCCAGAGCTTGTCTACATCACATGGAAGTGGAGTTTGCAATCCGTGTTTATCGGAGA c.2100
L A R A C L H H M E V E F A I R V Y R R p.700
. . . . | 19 . . g.54776
ATTGGAAATGTTGGCATAGTGATGTCCTTGGAACAAATAAAG | GGAATAGAGGACTACAAT c.2160
I G N V G I V M S L E Q I K | G I E D Y N p.720
. . . . . . g.54836
CTTTTGGCAGGACACCTTGCCATGTTTACCAACGATTATAACCTGGCTCAGGACTTGTAC c.2220
L L A G H L A M F T N D Y N L A Q D L Y p.740
. . . | 20 . . . g.57389
CTTGCATCCAGCTGTCCTATTGCTGCCCTGGAG | ATGAGAAGGGATTTACAGCATTGGGAC c.2280
L A S S C P I A A L E | M R R D L Q H W D p.760
. . . . . . g.57449
AGTGCTCTACAACTGGCAAAGCATTTGGCCCCAGACCAGATACCTTTTATATCAAAAGAA c.2340
S A L Q L A K H L A P D Q I P F I S K E p.780
. . | 21 . . . . g.62910
TATGCTATTCAGCTTGAATTCGC | GGGTGATTATGTAAATGCTTTGGCTCATTATGAGAAA c.2400
Y A I Q L E F A | G D Y V N A L A H Y E K p.800
. . | 22 . . . . g.66883
GGAATAACAGGTGATAATAAG | GAACATGATGAAGCTTGTCTGGCTGGAGTGGCCCAGATG c.2460
G I T G D N K | E H D E A C L A G V A Q M p.820
. . . . . . g.66943
TCCATAAGAATGGGAGACATACGTCGAGGGGTTAACCAAGCCCTCAAGCATCCCAGCAGG c.2520
S I R M G D I R R G V N Q A L K H P S R p.840
. . . . | 23 . . g.67084
GTCCTTAAAAGAGACTGTGGAGCCATATTGGAGAATATGAAG | CAATTTTCAGAAGCGGCC c.2580
V L K R D C G A I L E N M K | Q F S E A A p.860
. . . . . . g.67144
CAACTGTATGAAAAAGGTCTCTACTACGATAAAGCAGCATCTGTTTACATCCGCTCTAAG c.2640
Q L Y E K G L Y Y D K A A S V Y I R S K p.880
| 24 . . . . . . g.68020
AATTG | GGCAAAAGTTGGTGATCTTCTGCCCCACGTTTCTTCTCCTAAGATCCATTTGCAG c.2700
N W | A K V G D L L P H V S S P K I H L Q p.900
. . | 25 . . . g.75773
TATGCCAAAGCCAAGGAAGCAGATGGAAG | ATACAAAGAAGCTGTTGTAGCTTATGAAAAT c.2760
Y A K A K E A D G R | Y K E A V V A Y E N p.920
. . . . . . g.75833
GCAAAACAGTGGCAAAGTGTAATCCGCATCTATCTGGATCACCTCAATAATCCTGAAAAA c.2820
A K Q W Q S V I R I Y L D H L N N P E K p.940
. . . . . | 26 . g.76506
GCTGTCAATATTGTTAGAGAGACCCAGTCTCTGGATGGAGCCAAAATGGTAGCCAG | GTTT c.2880
A V N I V R E T Q S L D G A K M V A R | F p.960
. . . . . . g.76566
TTTCTACAGCTTGGTGACTATGGGTCTGCCATCCAGTTTCTTGTCATGTCCAAATGCAAC c.2940
F L Q L G D Y G S A I Q F L V M S K C N p.980
. . . . . . g.76626
AATGAAGCTTTCACACTGGCTCAGCAACACAACAAAATGGAAATCTATGCAGATATTATT c.3000
N E A F T L A Q Q H N K M E I Y A D I I p.1000
| 27 . . . . . . g.78503
G | GTTCTGAAGACACTACTAATGAAGACTATCAAAGCATTGCCTTATACTTTGAAGGAGAA c.3060
G | S E D T T N E D Y Q S I A L Y F E G E p.1020
. . . . . | 28 . g.80088
AAGAGATATCTTCAGGCTGGAAAATTCTTCTTGCTGTGTGGCCAATATTCACGA | GCACTT c.3120
K R Y L Q A G K F F L L C G Q Y S R | A L p.1040
. . . . . . g.80148
AAACACTTCCTGAAATGCCCAAGCTCGGAAGATAATGTGGCAATAGAAATGGCAATTGAA c.3180
K H F L K C P S S E D N V A I E M A I E p.1060
| 29 . . . . . . g.88716
ACT | GTTGGTCAGGCCAAAGATGAACTGCTGACCAATCAGCTGATAGACCATCTCCTGGGG c.3240
T | V G Q A K D E L L T N Q L I D H L L G p.1080
. . | 30 . . . . g.90630
GAGAACGATGGCATGCCTAAG | GATGCCAAGTACCTGTTCCGCTTGTACATGGCTCTGAAG c.3300
E N D G M P K | D A K Y L F R L Y M A L K p.1100
. . . . . | 31 g.92574
CAATACCGAGAAGCTGCCCAGACTGCCATCATCATTGCCAGAGAAGAGCAGTCTGCAG | GC c.3360
Q Y R E A A Q T A I I I A R E E Q S A G | p.1120
. . . . . . g.92634
AACTACCGGAATGCACACGATGTTCTCTTCAGTATGTATGCAGAACTGAAATCCCAGAAG c.3420
N Y R N A H D V L F S M Y A E L K S Q K p.1140
. . . . . . g.92694
ATCAAAATTCCCTCCGAGATGGCCACCAACCTCATGATTCTGCACAGCTATATACTAGTA c.3480
I K I P S E M A T N L M I L H S Y I L V p.1160
| 32 . . . . . . g.95633
AAG | ATTCATGTTAAAAATGGAGATCACATGAAAGGGGCTCGCATGCTCATTCGGGTGGCC c.3540
K | I H V K N G D H M K G A R M L I R V A p.1180
. . | 33 . . . . g.97439
AACAACATCAGCAAATTTCCATCAC | ACATTGTACCCATCCTGACGTCAACTGTGATTGAG c.3600
N N I S K F P S H | I V P I L T S T V I E p.1200
. . . . . . g.97499
TGTCACAGGGCAGGCCTGAAGAACTCTGCTTTCAGCTTCGCAGCTATGTTGATGAGGCCT c.3660
C H R A G L K N S A F S F A A M L M R P p.1220
. . . . . | 34 . g.99620
GAATACCGCAGCAAAATAGATGCCAAATACAAAAAGAAGATCGAGGGAATGGTCAG | GAGA c.3720
E Y R S K I D A K Y K K K I E G M V R | R p.1240
. . . . . . g.99680
CCCGATATATCTGAGATAGAAGAGGCCACGACTCCATGTCCATTCTGCAAATTTCTTCTC c.3780
P D I S E I E E A T T P C P F C K F L L p.1260
. . . . . . g.99740
CCAGAGTGTGAACTCCTCTGTCCTGGATGTAAAAACAGTATCCCATATTGCATTGCAACA c.3840
P E C E L L C P G C K N S I P Y C I A T p.1280
| 35 . . . . . . g.100787
| GGTCGACACATGTTGAAAGATGACTGGACGGTGTGTCCACATTGTGACTTCCCTGCTCTA c.3900
| G R H M L K D D W T V C P H C D F P A L p.1300
. | 36. . . . . g.101178
TACTCAGAATTGAAGAT | CATGCTAAACACTGAAAGCACATGTCCTATGTGTTCAGAAAGA c.3960
Y S E L K I | M L N T E S T C P M C S E R p.1320
. . . . . . g.101238
TTAAACGCTGCTCAGCTGAAAAAGATTTCAGACTGTACCCAGTACCTGCGAACGGAGGAG c.4020
L N A A Q L K K I S D C T Q Y L R T E E p.1340
g.101247
GAACTGTGA | c.4030
E L X p.1342
. | 37 . . . . . g.108130
ttggcacgtgcag | atacaatgctcctgagaagacagcattttccacaggaggctgtttcc c.*60
. . . . . . g.108190
tcccctggtggatttaagagacggtcctttctggatacagagaaatgaaacaacggtgac c.*120
. . . . . . g.108250
ctctccaggtcggcactttccacttctgtacggtggcaaaacgatgacatgtaaccttgc c.*180
. . . . . . g.108310
tgtttattgtactttgtatattatttcctcttcaaagtctttcttacacactctatcctc c.*240
. . . . . . g.108370
tgcactgttaatagtaacctatgacataattgtaaatattcagctttttgctaacttttg c.*300
. . . g.108407
tattttgaaaaactttaaaataaaattgttgactaga c.*337
(downstream sequence)
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