(used for variant description)
(last modified July 27, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001006657.1 in the WDR35 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021212.1, covering WDR35 transcript NM_001006657.1.
(upstream sequence)
. . . . g.5048
cagggcgacgggagctttccggagctgctggtactcccgattggagac c.-61
. . . . . . g.5108
gtagaaccgttacttgtcgagggccttagcggccgccgtgaccctctcggggatcccacg c.-1
. . | 02 . . . . g.5877
ATGTTCTTCTACCTGAGCAAGAAA | ATTTCCATTCCCAATAACGTGAAGCTGCAGTGTGTA c.60
M F F Y L S K K | I S I P N N V K L Q C V p.20
. . . . . . g.5937
TCCTGGAACAAGGAACAAGGGTTCATAGCATGCGGTGGTGAAGATGGATTACTGAAAGTT c.120
S W N K E Q G F I A C G G E D G L L K V p.40
. . | 03 . . . . g.12627
TTGAAATTAGAGACGCAGACAG | ATGATGCAAAATTGAGGGGCCTTGCAGCCCCCAGTAAC c.180
L K L E T Q T D | D A K L R G L A A P S N p.60
. . . | 04 . . . g.14366
CTTTCTATGAATCAGACTCTTGAAGGTCATAGTG | GTTCTGTTCAAGTTGTAACATGGAAT c.240
L S M N Q T L E G H S G | S V Q V V T W N p.80
. . . . . . g.14426
GAGCAGTATCAGAAGTTGACTACCAGTGATGAAAACGGGCTTATCATTGTGTGGATGTTA c.300
E Q Y Q K L T T S D E N G L I I V W M L p.100
| 05. . . . . . g.16297
TATAAAG | GCTCTTGGATTGAGGAGATGATCAACAATCGAAATAAATCAGTTGTTCGCAGT c.360
Y K G | S W I E E M I N N R N K S V V R S p.120
. . . . . . g.16357
ATGAGCTGGAATGCTGACGGACAGAAGATCTGCATTGTATATGAAGATGGGGCTGTGATA c.420
M S W N A D G Q K I C I V Y E D G A V I p.140
. | 06 . . . . . g.19504
GTTGGTTCAGTGGATG | GCAATCGTATTTGGGGAAAAGACCTGAAGGGTATACAGCTATCC c.480
V G S V D G | N R I W G K D L K G I Q L S p.160
. . . . . . g.19564
CATGTAACATGGTCTGCGGACAGTAAAGTCTTACTTTTTGGAATGGCAAATGGGGAAATA c.540
H V T W S A D S K V L L F G M A N G E I p.180
. . . | 07 . . . g.20520
CACATTTACGATAATCAAGGAAATTTTATG | ATAAAAATGAAACTGAGTTGTTTGGTGAAT c.600
H I Y D N Q G N F M | I K M K L S C L V N p.200
. . . . . . g.20580
GTCACTGGAGCTATCAGCATTGCTGGAATTCATTGGTACCATGGCACAGAAGGCTACGTG c.660
V T G A I S I A G I H W Y H G T E G Y V p.220
. . . . . . g.20640
GAGCCTGATTGCCCTTGCCTTGCTGTTTGCTTTGATAATGGAAGATGCCAAATAATGAGA c.720
E P D C P C L A V C F D N G R C Q I M R p.240
. | 08 . . . . . g.21459
CATGAGAATGACCAAA | ATCCCGTTTTGATTGACACTGGCATGTACGTAGTAGGCATCCAG c.780
H E N D Q N | P V L I D T G M Y V V G I Q p.260
. . . . . . g.21519
TGGAACCACATGGGCAGCGTGTTAGCTGTGGCAGGCTTCCAGAAGGCAGCCATGCAGGAC c.840
W N H M G S V L A V A G F Q K A A M Q D p.280
. . . . | 09 . . g.25536
AAAGATGTGAACATTGTGCAGTTTTACACTCCGTTTGGTGAG | CATCTGGGTACTTTGAAA c.900
K D V N I V Q F Y T P F G E | H L G T L K p.300
. . . . . . g.25596
GTTCCTGGAAAGGAAATATCTGCACTATCTTGGGAAGGAGGTGGACTGAAAATTGCACTA c.960
V P G K E I S A L S W E G G G L K I A L p.320
. . . . | 10 . g.28226
GCTGTTGATTCCTTTATATATTTTGCAAACATTCGACCTAATTATAAG | TGGGGTTATTGC c.1020
A V D S F I Y F A N I R P N Y K | W G Y C p.340
. . . . . . g.28286
TCAAACACTGTAGTTTATGCATATACCAGACCTGATCGTCCAGAATATTGTGTTGTCTTC c.1080
S N T V V Y A Y T R P D R P E Y C V V F p.360
. . . . . . g.28346
TGGGATACGAAAAACAATGAAAAATATGTTAAATATGTGAAGGGTCTCATTTCTATTACT c.1140
W D T K N N E K Y V K Y V K G L I S I T p.380
. . . . . | 11 . g.32802
ACCTGTGGAGATTTCTGCATTTTGGCTACAAAAGCTGATGAAAATCATCCTCAG | GAGGAG c.1200
T C G D F C I L A T K A D E N H P Q | E E p.400
. . | 12. . . . g.34542
AACGAGATGGAGACATTTGGTGCAACG | TTTGTACTAGTTCTTTGTAATTCTATTGGTACA c.1260
N E M E T F G A T | F V L V L C N S I G T p.420
. . | 13 . . . g.41177
CCCTTGGATCCCAAATACATTGATATTG | TACCATTGTTTGTTGCAATGACCAAAACCCAT c.1320
P L D P K Y I D I V | P L F V A M T K T H p.440
. . . . . . g.41237
GTGATAGCAGCCTCGAAAGAAGCATTTTATACCTGGCAATATCGTGTGGCAAAGAAGCTC c.1380
V I A A S K E A F Y T W Q Y R V A K K L p.460
. . . . . | 14 . g.43646
ACAGCATTGGAAATTAATCAGATCACACGGTCTCGAAAAGAAGGGAGAGAAAG | AATTTAT c.1440
T A L E I N Q I T R S R K E G R E R | I Y p.480
. . . . . . g.43706
CATGTTGATGATACCCCTTCTGGATCAATGGATGGTGTGCTTGATTATAGTAAAACCATT c.1500
H V D D T P S G S M D G V L D Y S K T I p.500
| 15 . . . . . | 16. g.48556
CAA | GGCACAAGGGATCCAATTTGTGCCATAACTGCATCAGATAAGATATTGATTGTG | GGT c.1560
Q | G T R D P I C A I T A S D K I L I V | G p.520
. . . . . . g.48616
CGTGAATCTGGCACCATTCAGAGATACAGTCTACCTAATGTTGGTTTGATTCAAAAATAT c.1620
R E S G T I Q R Y S L P N V G L I Q K Y p.540
. . . . | 17. . g.49140
TCCCTTAATTGTCGAGCCTACCAGTTATCCTTGAATTGCAACTCTAG | CCGTCTTGCTATC c.1680
S L N C R A Y Q L S L N C N S S | R L A I p.560
. . . . . . g.49200
ATAGACATCTCAGGAGTTCTGACTTTCTTTGACTTGGATGCTCGAGTAACGGACAGTACG c.1740
I D I S G V L T F F D L D A R V T D S T p.580
. . . . . . g.49260
GGACAGCAAGTAGTTGGAGAGTTGTTAAAATTGGAACGAAGAGATGTCTGGGATATGAAG c.1800
G Q Q V V G E L L K L E R R D V W D M K p.600
. . . . . . g.49320
TGGGCCAAAGATAATCCTGATTTGTTTGCAATGATGGAGAAGACAAGAATGTATGTTTTC c.1860
W A K D N P D L F A M M E K T R M Y V F p.620
. | 18 . . . . g.53326
AGAAACTTGGATCCTGAG | GAACCCATTCAGACCTCTGGATATATTTGTAATTTTGAGGAT c.1920
R N L D P E | E P I Q T S G Y I C N F E D p.640
. . . | 19 . . g.56743
TTAGAAATTAAATCTGTTCTTTTGGATGAGATATTAAAG | GATCCAGAACATCCAAACAAG c.1980
L E I K S V L L D E I L K | D P E H P N K p.660
. . . . . . g.56803
GATTACCTAATTAACTTTGAGATTCGGTCTCTGCGAGATAGCCGAGCACTGATTGAGAAG c.2040
D Y L I N F E I R S L R D S R A L I E K p.680
. . . . . | 20 . g.57181
GTTGGAATTAAAGATGCATCTCAGTTCATAGAGGACAATCCACACCCCCGACTTTG | GCGC c.2100
V G I K D A S Q F I E D N P H P R L W | R p.700
. . . . . . g.57241
CTACTGGCTGAAGCAGCTCTTCAGAAACTGGATCTATACACTGCAGAGCAAGCATTTGTG c.2160
L L A E A A L Q K L D L Y T A E Q A F V p.720
. . . . . . g.57301
CGCTGCAAAGATTACCAAGGCATTAAGTTTGTGAAGCGCTTGGGCAAACTACTGAGTGAG c.2220
R C K D Y Q G I K F V K R L G K L L S E p.740
. . . . . . g.57361
TCAATGAAACAGGCTGAAGTTGTTGGCTACTTCGGCAGGTTTGAAGAGGCTGAAAGAACG c.2280
S M K Q A E V V G Y F G R F E E A E R T p.760
. . | 21 . . . . g.58798
TATCTCGAGATGGACAGAAG | GGATCTTGCTATTGGCCTCCGGCTGAAATTGGGGGATTGG c.2340
Y L E M D R R | D L A I G L R L K L G D W p.780
. . . . . . g.58858
TTTAGAGTACTCCAGCTCCTGAAAACTGGATCTGGTGATGCAGATGACAGTCTCCTGGAA c.2400
F R V L Q L L K T G S G D A D D S L L E p.800
. . . . | 22. . g.59533
CAAGCCAACAATGCCATTGGAGACTACTTTGCTGATCGACAAAAGTG | GTTGAATGCTGTA c.2460
Q A N N A I G D Y F A D R Q K W | L N A V p.820
. . . . . . g.59593
CAATATTATGTACAAGGACGGAACCAGGAACGCTTAGCTGAATGTTACTATATGTTAGAG c.2520
Q Y Y V Q G R N Q E R L A E C Y Y M L E p.840
. . . . . . g.59653
GATTATGAAGGGTTAGAGAACCTTGCCATTTCACTTCCAGAAAACCACAAGTTACTTCCA c.2580
D Y E G L E N L A I S L P E N H K L L P p.860
| 23 . . . . . . g.61672
| GAAATAGCACAAATGTTTGTCAGAGTTGGAATGTGTGAACAAGCAGTGACTGCATTTTTG c.2640
| E I A Q M F V R V G M C E Q A V T A F L p.880
. . . . . | 24 . g.62685
AAATGTAGTCAACCAAAGGCAGCAGTAGATACCTGCGTACATCTCAACCAA | TGGAACAAA c.2700
K C S Q P K A A V D T C V H L N Q | W N K p.900
. . . . . . g.62745
GCTGTTGAATTGGCTAAAAATCATAGTATGAAAGAAATTGGATCTCTGTTAGCTAGGTAT c.2760
A V E L A K N H S M K E I G S L L A R Y p.920
. . . . . . g.62805
GCATCTCATTTACTGGAAAAGAATAAAACTCTTGATGCCATAGAACTCTATCGGAAAGCC c.2820
A S H L L E K N K T L D A I E L Y R K A p.940
. . . | 25 . . . g.63738
AATTACTTTTTTGATGCAGCTAAACTGATGTTTAAG | ATTGCAGATGAAGAGGCAAAGAAA c.2880
N Y F F D A A K L M F K | I A D E E A K K p.960
. . . . . . g.63798
GGAAGTAAACCTTTACGTGTCAAGAAGCTCTATGTACTGTCAGCCTTACTTATAGAGCAA c.2940
G S K P L R V K K L Y V L S A L L I E Q p.980
. . . . . | 26. g.64574
TACCATGAACAGATGAAGAATGCCCAGCGAGGAAAAGTTAAAGGAAAAAGTTCAGAG | GCC c.3000
Y H E Q M K N A Q R G K V K G K S S E | A p.1000
. . . . . . g.64634
ACTTCTGCCTTGGCTGGTTTGCTGGAAGAAGAAGTTCTGTCTACAACAGATCGTTTCACA c.3060
T S A L A G L L E E E V L S T T D R F T p.1020
. . . . . . g.64694
GATAATGCATGGAGAGGGGCAGAGGCTTACCACTTCTTTATACTTGCACAGAGGCAGCTC c.3120
D N A W R G A E A Y H F F I L A Q R Q L p.1040
. . . | 27 . . . g.80872
TATGAGGGATGTGTGGACACTGCACTGAAGACAG | CTCTTCACCTGAAAGACTATGAAGAC c.3180
Y E G C V D T A L K T A | L H L K D Y E D p.1060
. . . . . . g.80932
ATCATCCCTCCTGTGGAGATCTACTCTCTGCTAGCACTCTGCGCATGCGCCAGCAGAGCC c.3240
I I P P V E I Y S L L A L C A C A S R A p.1080
. . . . . . g.80992
TTTGGGACTTGTTCAAAAGCTTTCATTAAACTTAAATCTTTAGAGACCCTCAGTTCAGAA c.3300
F G T C S K A F I K L K S L E T L S S E p.1100
. . . . . . g.81052
CAGAAACAGCAGTATGAAGACCTTGCTTTAGAAATCTTCACCAAACATACTTCAAAAGAT c.3360
Q K Q Q Y E D L A L E I F T K H T S K D p.1120
. . . | 28 . . . g.81440
AACAGAAAACCTGAATTGGACAGCCTTATGGAAGG | TGGAGAAGGGAAACTGCCAACATGC c.3420
N R K P E L D S L M E G | G E G K L P T C p.1140
. . . . . . g.81500
GTTGCCACAGGAAGCCCAATCACTGAGTATCAATTCTGGATGTGCAGTGTATGCAAACAC c.3480
V A T G S P I T E Y Q F W M C S V C K H p.1160
. . . . . . g.81560
GGTGTCCTTGCTCAGGAAATAAGCCACTACAGCTTCTGCCCCTTATGCCATAGTCCAGTG c.3540
G V L A Q E I S H Y S F C P L C H S P V p.1180
g.81566
GGATAA c.3546
G X p.1181
. . . . . . g.81626
aggaatgataaactgtatataactgtaaaatatatgtagcatatatacatggctatatgc c.*60
. . . . . . g.81686
tgtatatgtaataaggtttatttctgtgagttttgtatgaaaatcagcctcattatttat c.*120
. . . . . . g.81746
agttgaatttttgcacaaaatatatgttaataaaataatttttatggcaatacaactgtg c.*180
. . . . . . g.81806
aaataataaggccgattttcatataaatgtatgaaaatcaaccatgttttctctcaccct c.*240
. . . . . . g.81866
ctctcttttgtttatcttgtttttggttacatgataccatggaaatattccaaataaatt c.*300
. . . . . . g.81926
tttttctcacagtgtcaaggtaactgaattcattaaaaaatcttgaagggagtagggagt c.*360
. . . . . . g.81986
gggggaagcatgggagtggggcaaagttgaatttagagaatttttataacccatgttaca c.*420
. . . . . . g.82046
aggaagttaaacaattgtaataatgaaatgagctttctctatagccatatttaattaaat c.*480
. . . . . . g.82106
aagtgtcgaatgtcttctttattgtattttcagaagtgaggcgatggcattttaagacat c.*540
. . . . . . g.82166
tttttacaatctgaattgtttctaatagccctattcttctattttaaaacctgtcctttt c.*600
. . . . . . g.82226
agtctcatttaagagatggcatttggaatttacactttcatatgattgtgcagaaaactt c.*660
. . . . . . g.82286
gcctctatttataatgaagataacttaaacagaaatatccattttgtagttatagcttct c.*720
. . . . . . g.82346
gttgaaacattgtcactaagttggaccgtttatttacacaagtattgttgagggagtgat c.*780
. . . . . . g.82406
tttttcttgatatgcgtctgttttcatttattattaatttgaaagataaacagttgtgat c.*840
. . . . . . g.82466
ccataatggatcatttcttatgtcttttacatagctaataatgttctctgtttatttctc c.*900
. . . . . . g.82526
atgaattcccattttgtggctaaagaccagacctttgcactatttcatcaagattatttt c.*960
. . . . . . g.82586
attgaggtttggcttacatatagtagaggcaatacatagagatacgcaactttgtttttg c.*1020
. . . . . . g.82646
cagctacaatacactttctcaatctcatatgtttttgtcttgtagagacagagacaagtt c.*1080
. . . . . . g.82706
cagcatgttgcagattgggaatagtgagctatgagaagagatttagagcctagatgagct c.*1140
. . . . . . g.82766
taggatagagagtgggctcattggcctaaataaaaagagaagaccagaagtctttgaggt c.*1200
. . . . . . g.82826
ctctgtctctattcatgcgcctcgtggaaaattaccttggtacaatggtagcctctaaat c.*1260
. . . . . . g.82886
agactgcctcgcaagctattccagaggtcatggaacagaaagccttataaaccaaataaa c.*1320
. . . . . . g.82946
aattctcaaaatacattggtttattgaaccaatttgcaatacacagtgaggaacaaggag c.*1380
. . . . . . g.83006
aaagcaatgatagattaacactgttagtgtaacgtgccagtggagtggaaagaccgcaac c.*1440
. . . . . . g.83066
acctgaatcctgggttttgtaatgtttttatgtcctgactcacattctgtcacatacgct c.*1500
. . . . . . g.83126
ttcccctaatagtcgggttacaaaaaggaccagagtggccgcttgagccagatgactcaa c.*1560
. . . . . . g.83186
tcagatgaaatgtgcctgaggccaacgatgtacacttgctctatagaagggtgtcagggg c.*1620
. . . . . . g.83246
caagtacacttcaccacagcaatagcttgcctattagtctgctgagcagtcatgaatttt c.*1680
. . . . . . g.83306
attgtatttcttgggtaaggacaggccagaatgagtgtcaccagtgggtaattgaatcaa c.*1740
. . . . . . g.83366
cttctcacacatactgaaggctttatatgtctcatgcatacttagtgtatcatgaatatt c.*1800
. . . . . . g.83426
tggtatctttgtggcttttcatatttttagtgcttcatgaatatttggtatctcttgctc c.*1860
. . . . . . g.83486
ctttctatctgtggtcacacatacacgctctattaactttgcctaataagtctcctaggt c.*1920
. . . . . . g.83546
tactaacttacttacctaaatgtaacacaatgaattccagctttctcatttgttctatac c.*1980
. . . . . . g.83606
cagaatgggaaatttccccaaatcagaaaatcacatcctaacaaagaagtctgtctaaga c.*2040
. . . . . . g.83666
cagtacatctcctgttgaacttgcatctttccacaggactttctgtttttagggatgaga c.*2100
. . . . . . g.83726
ctattctctgcttcatcaaggaaagagaaatgttcagggttgtagggatggcacacttat c.*2160
. . . . . . g.83786
tagttctgcctgtctgaaaggttcctgcaggacagtttggtcagagctgcaattcttagt c.*2220
. . . . . . g.83846
ccatggtctaatgcttgagtatctcttctttccctttcctgtctcaggaatcagctgaga c.*2280
. . . . . . g.83906
attcattcgattgtcatgcctctagccccttactgtgatttgttggttgcactttcattt c.*2340
. . . . . . g.83966
gctttagttctagaatcacctgttgactcctcagacttcacctaactttggaaactctct c.*2400
. . . . . . g.84026
tttggaggcttctcatttccccctaattctgtgctgcctgagccctagaattttcccacc c.*2460
. . . . . . g.84086
aacgaattattccaggtagatcctaagttgctggatctagttgatatttaaacaatatct c.*2520
. . . . . . g.84146
agttgatatttctcattcagttggatccagaaaccagtatctctaaaaacaacctctcat c.*2580
. . . . . . g.84206
accttgtggacctaattttgtgtgcgtgtgtgtgtgcgcgcatatgtatatagacaggca c.*2640
. . . . . . g.84266
catcttttttacttttgtaaaagcttatgcctctttggtatctatatctgtgaaagtttt c.*2700
. . . . . . g.84326
aatgatctgccataatgtcttggggacctttgtcttctgtgtaaatggtactagagaaaa c.*2760
. . . . . . g.84386
cacctatattatgagtcaatctagttggttttattcgacatgaaggaaatttccagataa c.*2820
. . . . . . g.84446
caacactaacaaactctcccttgactagggggacaaagaaaagcaaaactgaccataaaa c.*2880
. . . . . . g.84506
aacaattacctggtgagaagttgcataaacagaattaggtagtatattgaagacagcatc c.*2940
. . . . . . g.84566
attaaacagttatgttgttctccttgcaaaaaacatgtactgacttcccgttgagtaatg c.*3000
. . . . . . g.84626
ccaagttgttttttttattataaaacttgcccttcattacatgtttcaaagtggtgtggt c.*3060
. . . . . . g.84686
gggccaaaatattgaaatgatggaactgactgataaagctgtacaaataagcagtgtgcc c.*3120
. . . . . . g.84746
taacaagcaacacagtaatgttgacatgcttaattcacaaatgctaatttcattataaat c.*3180
. . . . . . g.84806
tgttttgctaaaatacactttgaaactatttttctgtattccaagagctgagatcttaga c.*3240
. . . . . g.84861
ttttatgtagtattaagtgaaaaaatacgaaaataataaacattgaagaaaaaaa c.*3295
(downstream sequence)
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