(used for variant description)
(last modified April 29, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_139281.2 in the WDR36 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering WDR36 transcript NM_139281.2.
(upstream sequence)
. . . . . g.5057
taacgagcttccttccaccgcaaaagagctggagaacaatgctaggcaacgtgctgg c.-61
. . . . . . g.5117
agaccttggccctcggaacccaagtcacgcctcccatgtgagctctggagggagaacttt c.-1
. . . . . . g.5177
ATGTGTTGCACTGAGGGCAGTCTCCGGAAACGCGATTCGCAGCGGGCGCCGGAAGCGGTG c.60
M C C T E G S L R K R D S Q R A P E A V p.20
. . . . . . g.5237
TTGTGTCTGCAGCTCTGGCAGAGGACTGTTCCACTAGACACGCTGAAGGGACTGGGTACG c.120
L C L Q L W Q R T V P L D T L K G L G T p.40
. . . . . . g.5297
TGTTTTCCTTCAGGACCAGAGCTGAGAGGAGCTGGGATCGCGGCGGCAATGGAACGGGCC c.180
C F P S G P E L R G A G I A A A M E R A p.60
. . . . . . g.5357
TCAGAAAGGCGCACGGCCAGCGCGCTTTTTGCGGGGTTCCGGGCCTTGGGACTTTTCAGC c.240
S E R R T A S A L F A G F R A L G L F S p.80
. . . . . . g.5417
AACGACATTCCACACGTGGTGCGGTTCAGCGCGCTCAAGCGCCGGTTCTATGTAACAACC c.300
N D I P H V V R F S A L K R R F Y V T T p.100
. . . | 02 . . | 03 g.9909
TGCGTGGGCAAGAGTTTCCACACCTATGAC | GTTCAGAAACTTAGTCTGGTTGCAGTAA | GT c.360
C V G K S F H T Y D | V Q K L S L V A V S | p.120
. . . . . . g.9969
AATTCTGTTCCACAGGATATCTGCTGTATGGCAGCTGATGGCAGATTAGTCTTTGCTGCT c.420
N S V P Q D I C C M A A D G R L V F A A p.140
. . . | 04 . . g.11571
TATGGAAATGTTTTCTCTGCATTTGCCCGTAATAAAGAG | ATAGTACATACCTTTAAGGGT c.480
Y G N V F S A F A R N K E | I V H T F K G p.160
. . . . . . g.11631
CATAAGGCAGAAATCCATTTCTTGCAACCCTTTGGAGACCACATTATCTCTGTTGATACT c.540
H K A E I H F L Q P F G D H I I S V D T p.180
. . . | 05. . . g.13441
GATGGCATTCTTATTATTTGGCACATATATTCAGAAG | AAGAATACCTGCAGTTGACTTTT c.600
D G I L I I W H I Y S E E | E Y L Q L T F p.200
. . . . . . g.13501
GATAAATCAGTATTTAAAATTTCTGCAATTTTGCATCCAAGTACCTACTTGAATAAAATA c.660
D K S V F K I S A I L H P S T Y L N K I p.220
. . . . . | 06 . g.15184
CTTCTGGGCAGTGAACAAGGAAGCCTGCAGTTGTGGAATGTAAAATCCAA | TAAACTTCTA c.720
L L G S E Q G S L Q L W N V K S N | K L L p.240
. . . . | 07 . . g.16630
TATACATTTCCAGGATGGAAAGTTGGAGTGACAGCTCTTCAGCAG | GCACCAGCCGTGGAT c.780
Y T F P G W K V G V T A L Q Q | A P A V D p.260
. . . . . . g.16690
GTTGTTGCTATTGGTCTTATGTCAGGTCAAGTTATCATTCACAACATTAAATTTAATGAA c.840
V V A I G L M S G Q V I I H N I K F N E p.280
. . . . . | 08 g.17008
ACATTAATGAAGTTTCGTCAAGACTGGGGACCCATTACTTCAATTTCATTTCGCACAG | AT c.900
T L M K F R Q D W G P I T S I S F R T D | p.300
. . . . . . g.17068
GGTCATCCAGTAATGGCAGCTGGAAGCCCATGTGGCCATATTGGACTCTGGGATCTAGAA c.960
G H P V M A A G S P C G H I G L W D L E p.320
. . . . . . g.17128
GACAAAAAATTAATCAACCAAATGAGAAATGCACACTCTACAGCAATTGCCGGACTGACA c.1020
D K K L I N Q M R N A H S T A I A G L T p.340
. . . . . | 09 . g.17532
TTTCTCCATAGAGAGCCACTTCTTGTCACAAATGGCGCTGACAATGCTCTTAGG | ATATGG c.1080
F L H R E P L L V T N G A D N A L R | I W p.360
. . . . . . g.17592
ATATTTGATGGTCCTACAGGTGAAGGCCGACTTTTGAGATTCAGAATGGGTCATAGTGCT c.1140
I F D G P T G E G R L L R F R M G H S A p.380
. . . . . | 10 . g.18129
CCTCTTACCAATATCAGATATTATGGACAGAATGGACAGCAGATTCTAAGTGCAA | GTCAA c.1200
P L T N I R Y Y G Q N G Q Q I L S A S | Q p.400
. . . . . . g.18189
GATGGAACTCTTCAGTCATTTTCCACGGTACATGAAAAATTCAATAAGAGCTTGGGACAT c.1260
D G T L Q S F S T V H E K F N K S L G H p.420
| 11 . . . . . . g.18945
G | GATTAATAAATAAAAAGAGAGTTAAACGTAAAGGACTTCAGAATACCATGTCAGTGAGA c.1320
G | L I N K K R V K R K G L Q N T M S V R p.440
. . | 12 . . . g.20155
CTTCCACCCATCACAAAGTTTGCAGCAG | AGGAAGCTCGTGAAAGTGACTGGGATGGTATC c.1380
L P P I T K F A A E | E A R E S D W D G I p.460
. . . . . . g.20215
ATTGCTTGCCATCAAGGTAAGCTATCTTGCTCAACCTGGAATTATCAGAAATCTACAATA c.1440
I A C H Q G K L S C S T W N Y Q K S T I p.480
. . . . . | 13 . g.23024
GGCGCTTACTTTCTCAAGCCAAAAGAGTTGAAGAAAGATGACATAACTGCAACA | GCAGTG c.1500
G A Y F L K P K E L K K D D I T A T | A V p.500
. . . . . . g.23084
GATATAACTTCTTGTGGAAACTTTGCTGTAATTGGCCTCTCATCAGGAACTGTAGATGTA c.1560
D I T S C G N F A V I G L S S G T V D V p.520
. . . . | 14 . g.23628
TATAACATGCAGTCTGGCATACATCGAGGAAGTTTTGGCAAGGATCAAG | CTCACAAGGGA c.1620
Y N M Q S G I H R G S F G K D Q A | H K G p.540
. . . . . . g.23688
TCTGTTAGAGGTGTCGCAGTGGATGGATTAAACCAGTTGACAGTTACAACTGGTAGTGAA c.1680
S V R G V A V D G L N Q L T V T T G S E p.560
. . . . . . g.23748
GGATTACTCAAATTCTGGAACTTTAAAAACAAAATTTTAATCCATTCTGTGAGCCTCAGT c.1740
G L L K F W N F K N K I L I H S V S L S p.580
. . . | 15 . . . g.24024
TCATCTCCAAATATCATGTTGCTACATAGGGACAG | TGGCATTCTGGGACTCGCCTTGGAT c.1800
S S P N I M L L H R D S | G I L G L A L D p.600
. . . . . . g.24084
GACTTCTCCATTAGTGTTCTGGACATAGAAACTAGGAAGATTGTCAGAGAGTTTTCTGGA c.1860
D F S I S V L D I E T R K I V R E F S G p.620
. . | 16 . . . . g.25939
CACCAAGGCCAAATAAATGACATG | GCTTTTAGTCCTGATGGTCGTTGGTTAATAAGTGCT c.1920
H Q G Q I N D M | A F S P D G R W L I S A p.640
. . . . | 17 . . g.31857
GCGATGGATTGCTCTATTAGGACTTGGGACCTTCCTTCTGGGTG | CCTTATAGACTGCTTT c.1980
A M D C S I R T W D L P S G C | L I D C F p.660
. . . . . . g.31917
TTGTTGGACTCGGCTCCTCTCAATGTTTCTATGTCTCCTACTGGAGACTTTCTGGCAACT c.2040
L L D S A P L N V S M S P T G D F L A T p.680
. . . | 18 . . . g.33352
TCCCATGTGGACCACCTTGGAATTTATCTATG | GTCCAATATTTCCCTGTATTCAGTTGTT c.2100
S H V D H L G I Y L W | S N I S L Y S V V p.700
. . . . . . g.33412
TCATTACGGCCACTTCCTGCAGATTATGTCCCTTCAATAGTCATGCTTCCTGGTACTTGT c.2160
S L R P L P A D Y V P S I V M L P G T C p.720
. | 19 . . . . . g.33874
CAAACCCAAG | ATGTAGAAGTATCAGAAGAAACAGTAGAACCAAGTGATGAATTGATAGAA c.2220
Q T Q D | V E V S E E T V E P S D E L I E p.740
. . . . . . g.33934
TATGATTCGCCAGAACAGTTGAATGAGCAATTGGTGACTCTTTCACTTCTTCCTGAATCA c.2280
Y D S P E Q L N E Q L V T L S L L P E S p.760
. . . | 20 . . . g.36657
CGATGGAAAAACCTTCTTAACCTTGATGTTATTAAG | AAAAAGAATAAACCAAAGGAACCA c.2340
R W K N L L N L D V I K | K K N K P K E P p.780
. . . . . . g.36717
CCCAAAGTACCCAAATCAGCACCATTTTTCATTCCAACAATTCCTGGCCTTGTACCCAGA c.2400
P K V P K S A P F F I P T I P G L V P R p.800
. . . | 21 . . . g.36960
TATGCTGCACCTGAACAAAATAATGATCCCCAGCAG | TCTAAAGTGGTAAATCTTGGAGTT c.2460
Y A A P E Q N N D P Q Q | S K V V N L G V p.820
. . . . . | 22 g.38438
TTGGCTCAAAAATCAGATTTCTGCTTGAAACTTGAAGAAGGACTGGTAAATAATAAGT | AT c.2520
L A Q K S D F C L K L E E G L V N N K Y | p.840
. . . . . . g.38498
GACACTGCTCTCAACCTTCTGAAAGAATCAGGCCCATCAGGAATTGAAACAGAGCTGCGA c.2580
D T A L N L L K E S G P S G I E T E L R p.860
. . . . . . g.38558
AGCTTGTCTCCTGATTGTGGTGGGTCCATAGAAGTTATGCAGAGCTTCTTGAAAATGATT c.2640
S L S P D C G G S I E V M Q S F L K M I p.880
. . . . . . g.38618
GGGATGATGCTGGACAGAAAGCGTGATTTTGAGTTAGCCCAGGCATACCTTGCATTGTTT c.2700
G M M L D R K R D F E L A Q A Y L A L F p.900
| 23 . . . . . . g.39616
CTAAAG | TTACACCTTAAAATGCTTCCTTCAGAGCCAGTACTCCTAGAAGAAATAACAAAT c.2760
L K | L H L K M L P S E P V L L E E I T N p.920
. . . . . . g.39676
TTGTCATCCCAGGTGGAAGAAAACTGGACCCATTTGCAATCACTCTTCAATCAAAGCATG c.2820
L S S Q V E E N W T H L Q S L F N Q S M p.940
. . . g.39712
TGTATTTTAAATTATCTCAAAAGTGCTTTGTTGTAA c.2856
C I L N Y L K S A L L X p.951
. . . . . . g.39772
aaataaatttgtgactaaacaaagactttcatattaaatgggttcaattgaactcatttc c.*60
. . . . . . g.39832
ttattttccaagtgtcaatgtgaaaagaaaataaatgctagcactactgactagtcagta c.*120
. . . . . . g.39892
tatctccactttaaatgctaaatactttcttgaaataaaatcgcacctcccggccaggca c.*180
. . . . . . g.39952
tgatggataatgcctgtaattccagcactttcagaggccaaagcgggaggattgcttgaa c.*240
. . . . . . g.40012
gccaggaatttgagcccagcctgggcaacatagcaagcaagatcccatctctacaaaaag c.*300
. . . . . . g.40072
ttaaaaaaataaattacacctgccttttgttttgaagacttaaagaatctgctcaaatga c.*360
. . . . . . g.40132
tttattttctgagtctcttcacattaacttttatatgatttttaaaaaattattacctgc c.*420
. . . . . . g.40192
ttatattttttgagtatctgtttcatataaagagatgctgcatgttcactgtgaagtatt c.*480
. . . . . . g.40252
gctgaattaaattgaaaatgtcagataaaactgatacatgatgtagttataaaaatgctg c.*540
. . . . . . g.40312
ttatgaagaaaaaaggaatgcttttttcctcggtggcctttgataaaaatatgaatgatt c.*600
. . . . . . g.40372
gactctcagagttggaggataaactaatcatcttctagcacagccctgttgtgttgcagg c.*660
. . . . . . g.40432
agaggaatcaggctaaagtctgctggtatttcagtgacagattaaaactttctaacagtg c.*720
. . . . . . g.40492
gcctagtgctttctccattgtaatgtactgaaaggaagttgttcatggatcagaaatgtg c.*780
. . . . . . g.40552
ggaggcccttccttgcccaaggcaagtcgctgtagatggttaaactgataccaaggatag c.*840
. . . . . . g.40612
gtaagggaaattccaaattccattggaagatggccttttactgacactgcagacatgtag c.*900
. . . . . . g.40672
ataacaatagtttaatgtcctctgaaaaggtaaaaattccataaatccttgcaaacaatt c.*960
. . . . . . g.40732
tttagcaatattgtttattgctaccacagccaagaatgggtatttcaaagccagggtttt c.*1020
. . . . . . g.40792
ttttattttgttttgttttgtttttttttttttttttttggctacacttttttggggggg c.*1080
. . . . . . g.40852
accttttaatttgggaagaaaatgctgagtatacttttctttcacaaccattgcaaaccc c.*1140
. . . . . . g.40912
aggtagccctggagttttctttttttctcatcatcattgttttgttttttttatggttca c.*1200
. . . . . . g.40972
agacttttgcaatacatgaattaaaaataagcagttctttaaagcatagcgctctaaaaa c.*1260
. . . . . . g.41032
ctattcttagtttataccctcaaaagttgggtctttcatgaaacacagtggtttgaatat c.*1320
. . . . . . g.41092
gaacaccagtagcattctcgttcgttgttagggtaagagagttttgtagaatgatctcca c.*1380
. . . . . . g.41152
aaagaagcagtcctcaaaaggcatttaccagtgatatcttttaatattcatgtttttatt c.*1440
. . . . . . g.41212
taatgatgtaagatagaattaataaactactaaggaaataagccaatgtggttattgtac c.*1500
. . . . . . g.41272
tcaatttcgtttttcttttagaaatgtgtattgacttattaaagccactgacagaaatgt c.*1560
. . . . . . g.41332
taatcatgacttaagttctaatttaaaaaactattttcctctttcctaaatactatattc c.*1620
. . . . . . g.41392
taaattggaatatggcaaaatcccaatatataattctatacctagtaaagattgtaaata c.*1680
. . . . . . g.41452
actaaaacaaaatgataagagctgtgaactgaaattgtattgcttacagaaatcatgaac c.*1740
. . . . . . g.41512
cgaattttcttctctttttaaagtgagcataaagacttaagtgtattgttaccagagata c.*1800
. . . . . . g.41572
tatttagatagaatacatcattttggcaggtaatcttctagaacctttcatgtactgttt c.*1860
. . . . . . g.41632
ccatcaagggagggaaagaaatagaaaatataattttatctatattttccttaaaatata c.*1920
. . . . . . g.41692
tcaatctgtgcacactctttcagttttttaattactcatgtaatatatgactacattttg c.*1980
. . . . . . g.41752
cttgtgtgctttttgaaaaccatcttcagtcccaatatcctctgtagaagtaatagtttt c.*2040
. . . . . . g.41812
aactctcctagatcttcttttagagtgtttttatgagtgtttaatgtaggaatgtgtata c.*2100
. . . . . . g.41872
tattatctacagccacaggaaatgtatagttacgatttttacatacgtgtatgtatatta c.*2160
. . . . . . g.41932
ttgtacaacttgctatttctacttgggagttttttattttggtacattcacatttaccta c.*2220
. . . . . . g.41992
atctcttgtgcactgtccaacagtactttgcctataatagacacttaaggaagttttcct c.*2280
. . . . . . g.42052
tctttttattcctttataattacaaacaatgctgaaaggaacatcatcctacatgagccc c.*2340
. . . . . . g.42112
tttttgtacatataaggctctctctgtggtatatgcttaggatttgaatttcaggccaga c.*2400
. . . . . . g.42172
gtataaccatttttaatttgaagagatacttccatttgggttccagaatggctgtatcaa c.*2460
. . . . . . g.42232
gttacagttcccctgagcaagatatgagcatctgcttccccatgtaattaatgacacttg c.*2520
. . . . . . g.42292
ctattggatttttgtaatttaattactctgaaaaaattattttggttttaaatcagaaat c.*2580
. . . . . . g.42352
ttctcactagtgaagatggacatatttttgtatgtttattttagaacatataaacatttg c.*2640
. . . . . . g.42412
ttaattttctttttcctctcatttttctattgaatgatttgtccttttatctcatggatt c.*2700
. . . . . . g.42472
tgttaggagttctcttgtattttctgtattttatgtctgttgccaatgttttctcctact c.*2760
. . . . . . g.42532
tagccatttggctttaattttacatggtgtctgtttaaataaatgttttatatttgtata c.*2820
. . . . . . g.42592
caatcaaattgattaattttcatgacttatttcaggatataaagcaaattattttctaag c.*2880
. . . . . . g.42652
acatttacagtgtatgttttcctatgtttacatgtgctcatttcacgtcatgtattttcc c.*2940
. . . . . . g.42712
tctacgacatgtttctgtgtgagtagttaacatgtagatctttagaattgatttttctga c.*3000
. . . . . . g.42772
agagtgaaacagcgctgcttccaatatctgttcaaaattcatttattgaaaagtccactc c.*3060
. . . . . . g.42832
atatgtctgatttgaaatgctgtttcattatgtgttaaattctttcactgagctcttcca c.*3120
. . . . . . g.42892
tattcctagtaaatgatgcattactttggtatgttctcagatttgggtaaagccttcctc c.*3180
. . . . . . g.42952
atgttctataaaaattggttaactgctggtgagcacatctcttgaagttttgatatgggt c.*3240
. . . . . . g.43012
tgcacaacatttataggactgatttggagagaccgacaataccgagtgcagtcctccctt c.*3300
. . . . . . g.43072
ggtatctagttccaggacccctgtggataccaaaatccaagcaatgccctgcagatcatg c.*3360
. . . . . . g.43132
ggacctatgcatatgaaaagtcggtccttgtatttgagggttttgcatccctcaaatacc c.*3420
. . . . . . g.43192
atatgttttatttgtgtttggttgaaaaaagtttgcatataagtgaaacttagcatttca c.*3480
. . . . . . g.43252
aacctgtgttgttcaaagatcatttgtatttctcttcaagaacaatgaatgtcttcatta c.*3540
. . . . . . g.43312
aatcatcttttgtgggagagcttttggtttcatagattttcatatatatatatgatataa c.*3600
. g.43331
taaacactttttgacattc c.*3619
(downstream sequence)
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