(used for variant description)
(last modified August 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_032322.3 in the RNF135 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011701.1, covering RNF135 transcript NM_032322.3.
(upstream sequence)
. g.5016
gggtggcgccaaggaa c.-121
. . . . . . g.5076
ggaggagaaaaggcggccgagaaaaggaggagggcaaggggaagaggaagggcgagggag c.-61
. . . . . . g.5136
gagcctgaggagactcgcccggctcaaccccgacgtccgcgccccggccgcctgttggcc c.-1
. . . . . . g.5196
ATGGCGGGCCTGGGCCTGGGCTCCGCCGTTCCCGTGTGGCTGGCCGAGGACGACCTCGGC c.60
M A G L G L G S A V P V W L A E D D L G p.20
. . . . . . g.5256
TGCATCATCTGCCAGGGGCTGCTGGACTGGCCCGCCACGCTGCCCTGCGGCCACAGCTTC c.120
C I I C Q G L L D W P A T L P C G H S F p.40
. . . . . . g.5316
TGCCGCCACTGCCTGGAGGCCCTGTGGGGCGCCCGCGACGCCCGCCGCTGGGCCTGCCCC c.180
C R H C L E A L W G A R D A R R W A C P p.60
. . . . . . g.5376
ACTTGCCGCCAGGGCGCCGCGCAGCAGCCGCACCTGCGGAAGAACACGCTACTGCAGGAC c.240
T C R Q G A A Q Q P H L R K N T L L Q D p.80
. . . . . . g.5436
CTGGCCGACAAGTACCGCCGCGCCGCACGCGAGATACAGGCGGGCTCCGACCCTGCCCAC c.300
L A D K Y R R A A R E I Q A G S D P A H p.100
. . . . . . g.5496
TGCCCCTGCCCGGGCTCCAGTTCCCTCTCCAGCGCGGCCGCGAGGCCCCGGCGCCGCCCG c.360
C P C P G S S S L S S A A A R P R R R P p.120
. | 02 . . . . . g.18727
GAACTGCAGCGG | GTGGCAGTAGAGAAGAGCATCACAGAAGTTGCTCAGGAGCTGACAGAG c.420
E L Q R | V A V E K S I T E V A Q E L T E p.140
. . . . . . g.18787
CTGGTGGAACATCTTGTAGACATTGTCAGAAGCCTGCAGAATCAGAGGCCCCTATCAGAA c.480
L V E H L V D I V R S L Q N Q R P L S E p.160
. . . | 03 . . . g.22030
TCTGGACCAGACAACGAACTGAGCATCCTGGGCAAG | GCTTTTTCTTCTGGGGTGGATCTT c.540
S G P D N E L S I L G K | A F S S G V D L p.180
. . . . . . g.22090
TCCATGGCTTCTCCAAAGCTGGTGACTTCCGACACAGCTGCAGGGAAAATCAGAGATATT c.600
S M A S P K L V T S D T A A G K I R D I p.200
. . . . . . g.22150
CTCCATGACCTAGAAGAAATTCAGGAAAAATTACAAGAAAGCGTCACCTGGAAAGAGGCT c.660
L H D L E E I Q E K L Q E S V T W K E A p.220
. | 04 . . . . g.31345
CCTGAAGCACAAATGCAGG | GAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTG c.720
P E A Q M Q G | E L L E A P S S S S C P L p.240
. . . . | 05 . g.32735
CCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGT | GGGCCATCCAT c.780
P D Q S H P A L R R A S R F A Q W | A I H p.260
. . . . . . g.32795
CCAACCTTTAACTTGAAGAGCCTTTCCTGCAGCCTGGAGGTGTCCAAGGATTCCCGTACA c.840
P T F N L K S L S C S L E V S K D S R T p.280
. . . . . . g.32855
GTGACTGTGTCTCACCGCCCACAACCCTATCGCTGGAGCTGTGAGAGGTTTTCTACCAGC c.900
V T V S H R P Q P Y R W S C E R F S T S p.300
. . . . . . g.32915
CAGGTCTTATGTTCCCAGGCCCTGTCTTCTGGAAAGCATTACTGGGAAGTGGACACTAGG c.960
Q V L C S Q A L S S G K H Y W E V D T R p.320
. . . . . . g.32975
AATTGCAGCCACTGGGCAGTTGGGGTGGCTTCCTGGGAGATGAGCCGCGACCAGGTCCTG c.1020
N C S H W A V G V A S W E M S R D Q V L p.340
. . . . . . g.33035
GGAAGGACTATGGACTCTTGTTGTGTGGAATGGAAGGGGACTAGCCAGCTCTCTGCATGG c.1080
G R T M D S C C V E W K G T S Q L S A W p.360
. . . . . . g.33095
CACATGGTCAAGGAAACTGTCCTTGGCTCAGACAGACCTGGGGTGGTGGGCATCTGGCTG c.1140
H M V K E T V L G S D R P G V V G I W L p.380
. . . . . . g.33155
AACCTTGAGGAGGGAAAGCTTGCCTTCTATTCAGTGGACAATCAGGAGAAGCTTCTGTAT c.1200
N L E E G K L A F Y S V D N Q E K L L Y p.400
. . . . . . g.33215
GAGTGTACCATCTCTGCCTCCTCTCCTTTGTACCCTGCCTTCTGGCTGTATGGCTTACAT c.1260
E C T I S A S S P L Y P A F W L Y G L H p.420
. . . g.33254
CCTGGAAATTACCTGATAATAAAGCAAGTAAAGGTGTAA c.1299
P G N Y L I I K Q V K V X p.432
. . . . . . g.33314
ggtttcctaagggattacaacacagtggtttcctggtctctctccctgtcatcaatcagg c.*60
. . . . . . g.33374
gtagtaacttgacttaagaataccactttttagaaaaattacgatagagatgggatctca c.*120
. . . . . . g.33434
ctaggttgcccaggctggtgtcgaattcctggtctcaagcagtcctcccacctcagcctc c.*180
. . . . . . g.33494
ccaaggtgctgggattacaggtgtgagccaccacacctggccaagaataccacttttgaa c.*240
. . . . . . g.33554
gttaatccttttgtgtgatacaggatgaacttgggatgtttgaaccctggacattccaaa c.*300
. . . . . . g.33614
taaagaataggcccctgcctggctcctgggagataacctctaagccattagaatatcttg c.*360
. . . . . . g.33674
cctgataagagtgtttttgtttacctgtgggccttgggccatgcagtatcagcttgacct c.*420
. . . . . . g.33734
tgcaaggtcaagctgaggagactaagttagccatgtgggcagtgaagcatgccaatgtga c.*480
. . . . . . g.33794
tcaatccctagtaaaagccctggacacctaggcatgggtgagctactctggttggtaata c.*540
. . . . . . g.33854
ctctgtgcacacatcattgtagccacacatcattgctgggagaattaagcattatcctga c.*600
. . . . . . g.33914
agactctgccaggagaggataattggaagttctcttggaccttaccttatgtgcctttct c.*660
. . . . . g.33972
tcattgctgattttaatctgtatcctttcactgtaataaactgtaactatgagtgcaa c.*718
(downstream sequence)
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