(used for variant description)
(last modified July 14, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_018191.3 in the RCBTB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_046892.1, covering RCBTB1 transcript NM_018191.3.
(upstream sequence)
. . g.5044
gacccggcgggcccggcgccc c.-241
. . . . . . g.5104
tggcgctcctcctcttcgctgccggtgggcaccgccgctcgctcgcacttctgcgcccat c.-181
. . . . . . | 02 g.10023
tggagcttcggagatccctgcggtcccgcgggacggcgcggcagcagctgacctcgcag | a c.-121
. . . . . . g.10083
caggatcttgctctcttgcccagactggaatacagtggtgtgaacacggctcactgcagc c.-61
. . | 03 . . . g.23327
ctcaacctcctggactcag | agatgtcggcttatttataggaattgcttgaagccagagtc c.-1
. . . . . . g.23387
ATGGTGGATGTCGGAAAGTGGCCCATCTTCACTCTACTCTCCCCTCAAGAGATCGCGTCT c.60
M V D V G K W P I F T L L S P Q E I A S p.20
. . . . . . g.23447
ATTCGGAAGGCGTGTGTCTTCGGCACCTCAGCCAGTGAAGCACTGTACGTTACTGACAAT c.120
I R K A C V F G T S A S E A L Y V T D N p.40
| 04 . . . . . . g.23892
GATGAG | GTCTTTGTATTTGGACTGAACTATAGTAACTGTCTAGGAACTGGAGATAACCAG c.180
D E | V F V F G L N Y S N C L G T G D N Q p.60
. . . . . . g.23952
AGTACACTTGTACCCAAAAAGCTAGAAGGCTTATGTGGAAAGAAGATTAAAAGCCTCAGT c.240
S T L V P K K L E G L C G K K I K S L S p.80
. . . | 05. . . g.30545
TACGGGAGTGGACCACATGTTCTTCTCAGCACCGAAG | ATGGAGTGGTTTATGCCTGGGGC c.300
Y G S G P H V L L S T E D | G V V Y A W G p.100
. . . . . . g.30605
CACAATGGATATAGCCAGCTTGGGAATGGGACGACCAACCAAGGCATTGCTCCCGTCCAG c.360
H N G Y S Q L G N G T T N Q G I A P V Q p.120
. . . . . . g.30665
GTCTGTACCAATCTCTTGATCAAGCAAGTGGTGGAAGTAGCTTGTGGCTCACATCATTCA c.420
V C T N L L I K Q V V E V A C G S H H S p.140
. . | 06 . . . . g.34969
ATGGCTCTGGCAGCTGATGGAGAG | GTGTTTGCTTGGGGTTATAACAACTGTGGCCAAGTG c.480
M A L A A D G E | V F A W G Y N N C G Q V p.160
. . . . . . g.35029
GGATCAGGTTCTACAGCAAATCAACCAACTCCTCGAAAAGTTACAAACTGTTTACATATT c.540
G S G S T A N Q P T P R K V T N C L H I p.180
. . . . . . g.35089
AAGAGGGTAGTTGGCATTGCCTGTGGTCAGACTTCATCCATGGCTGTTCTGGACAATGGC c.600
K R V V G I A C G Q T S S M A V L D N G p.200
| 07 . . . . . . g.38378
GAG | GTATATGGCTGGGGTTACAATGGCAACGGTCAGCTGGGCCTGGGAAACAATGGCAAC c.660
E | V Y G W G Y N G N G Q L G L G N N G N p.220
. . . . . | 08 . g.39147
CAGCTGACCCCTGTGAGAGTGGCAGCTTTGCACAGCGTGTGTGTGAACCAG | ATTGTCTGC c.720
Q L T P V R V A A L H S V C V N Q | I V C p.240
. . . . . . g.39207
GGTTACGCACATACTCTAGCACTAACAGATGAGGGCTTGCTGTATGCCTGGGGAGCTAAC c.780
G Y A H T L A L T D E G L L Y A W G A N p.260
. . . . . . g.39267
ACATATGGGCAGCTGGGAACTGGCAATAAAAATAACCTGCTAAGCCCAGCACACATCATG c.840
T Y G Q L G T G N K N N L L S P A H I M p.280
. | 09 . . . . . g.41004
GTGGAGAAAGAAAG | GGTGGTAGAGATTGCAGCCTGTCACTCTGCCCACACGTCTGCAGCC c.900
V E K E R | V V E I A A C H S A H T S A A p.300
. . . . . . g.41064
AAGACGCAGGGTGGGCACGTGTACATGTGGGGCCAGTGCCGGGGTCAGTCCGTGATCCTC c.960
K T Q G G H V Y M W G Q C R G Q S V I L p.320
. . . . . . g.41124
CCGCACCTCACCCACTTCTCCTGCACCGACGACGTGTTTGCCTGCTTTGCCACTCCCGCC c.1020
P H L T H F S C T D D V F A C F A T P A p.340
. . | 10 . . . . g.45778
GTCTCGTGGCGCCTCCTGTCTGTGG | AGCATGAAGACTTTTTAACAGTTGCAGAGTCACTG c.1080
V S W R L L S V E | H E D F L T V A E S L p.360
. . . . . . g.45838
AAGAAAGAATTTGATAGTCCAGAAACTGCTGATCTGAAGTTTCGAATTGATGGAAAATAT c.1140
K K E F D S P E T A D L K F R I D G K Y p.380
. . . | 11 . . . g.48807
ATTCATGTCCATAAAGCTGTTTTGAAAATCAG | GTGTGAGCATTTTCGATCCATGTTCCAG c.1200
I H V H K A V L K I R | C E H F R S M F Q p.400
. . . . . . g.48867
TCGTATTGGAATGAAGACATGAAGGAAGTGATAGAAATCGATCAGTTTTCTTACCCAGTG c.1260
S Y W N E D M K E V I E I D Q F S Y P V p.420
. . . . . . g.48927
TATCGTGCCTTTCTCCAGTACCTCTACACAGACACAGTCGACCTGCCGCCAGAAGATGCT c.1320
Y R A F L Q Y L Y T D T V D L P P E D A p.440
| 12 . . . . . . g.49656
ATAG | GTCTTCTGGATTTGGCGACATCTTACTGTGAAAACAGACTGAAAAAACTTTGTCAG c.1380
I G | L L D L A T S Y C E N R L K K L C Q p.460
. . . . . . g.49716
CACATTATCAAGAGAGGAATTACTGTGGAGAATGCCTTTTCGCTATTCTCTGCTGCAGTC c.1440
H I I K R G I T V E N A F S L F S A A V p.480
. | 13 . . . . . g.56389
AGATATGATGCAGAG | GATTTAGAAGAATTCTGCTTTAAGTTTTGCATCAATCATTTGACA c.1500
R Y D A E | D L E E F C F K F C I N H L T p.500
. . . . . . g.56449
GAAGTTACACAGACTGCAGCATTTTGGCAAATGGATGGCCCTCTGCTAAAGGAATTCATT c.1560
E V T Q T A A F W Q M D G P L L K E F I p.520
. . . g.56485
GCTAAAGCCAGTAAATGTGGAGCCTTTAAGAACTGA c.1596
A K A S K C G A F K N X p.531
. . . . . . g.56545
agcgcaaggctgctgggttctgtgtgagtgctctggggcactgttgaggatgtgtccagt c.*60
. . . . . . g.56605
ttgtgctctacgggtgatgtgattctgcaggtaaaagaccatcaggttgtttttttccac c.*120
. . . . . . g.56665
atctgggacacagttgtttgtgtaggaacataacaagggtgtacggcttttcttgagccc c.*180
. . . . . . g.56725
attttaaacaacccttgtttccagataagtgtattttaaatgtgacctttcgtaaatttg c.*240
. . . . . . g.56785
ggctggaacatgtaaaagggtgaaagttagtcgtttttggtcttcttttcatttttgatt c.*300
. . . . . . g.56845
agaggaacttctgaacttggaaaggggaagttggcagcaactctcctgggccacgtatca c.*360
. . . . . . g.56905
acaatcttctgacagcaggagcagtgatagttggggaattgtgagatgaatggagaggcc c.*420
. . . . . . g.56965
ccatcgtgaattaaagatgctgacctggggattgttaagtgctgccttagttgctagttt c.*480
. . . . . . g.57025
agtagccttactgtgaaggaataattaagattgtttcagacttttgtttgtgtgcttgcg c.*540
. . . . . . g.57085
ttgatgacttttttaacttcaagataaatcaaagtaataagtttaacgtatattaaacct c.*600
. . . . . . g.57145
gttgaaatgataattatgtaaagataaatattctaggttagtcaagatttctcttaagat c.*660
. . . . . . g.57205
ttaagtgcataaagaatagtaatttagaagtatccgtgaaaagttgataatgaaagaaat c.*720
. . . . . . g.57265
ttgatgaaggtgaatattttataaattagaatctccactacttatccaatggtgttttat c.*780
. . . . . . g.57325
ttcattaaggtagaacttgagaactcaagtttaaattgtcccccaccaccttcttctata c.*840
. . . . . . g.57385
aatgcaaacttaagaggaaaataatgacatgtatagtatactcttgccttcctaaattat c.*900
. . . . . . g.57445
gactgctgaatcatcatatctactatatatgactggaagaagtggttcttcaagtcaacc c.*960
. . . . . . g.57505
ctcttacaagacttagtggaatttgctttatctactttaggccaaatccatcacacattg c.*1020
. . . . . . g.57565
gcttatgtgaaactttatcatctttcacttttggttttcctctgtttttaaacatcttag c.*1080
. . . . . . g.57625
gtataacagcacaatttcaccttgaaaaagcaccaaaattatggtgttcctgaaaagatc c.*1140
. . . . . . g.57685
ctattaaaagacagtagtttatttgaactggttatggaaggtgactttgggatgtaagag c.*1200
. . . . . . g.57745
tgttcaactgtgagtttcatcatgtgtgtccgttgagcttgcttttaagagcaatgtttt c.*1260
. . . . . . g.57805
gctttgctctctggtccatgaactcatttccatttgagtgagttcccttagtgaattttg c.*1320
. . . . . . g.57865
tctcctgcttggaaagtctctcttctgaacctggagcctgaatacattttcagagccaaa c.*1380
. . . . . . g.57925
ttacaagtgggtgaagacatgctacaactactatttttagcaatgtttttaaatttgtgt c.*1440
. . . . . . g.57985
ctattggggtgggaaggggagtgaggccctaaagataggaattcactgatagctgaaata c.*1500
. . . . . . g.58045
gatacaagcctaggagccccagcccccttttcttgaccatatcacaagtgattgaagccc c.*1560
. . . . . . g.58105
agtgaattagtcggttagaattcgttctacaacatgatagaacttttcttactagcttca c.*1620
. . . . . . g.58165
gaaatgcacattgatttgtgctatgatgggtggtgtttgtaacaatcactgttctatagg c.*1680
. . . . . . g.58225
cttatgatctgagcaaaatgtgaacttcagtatgtttactattgctcttacttgaaaact c.*1740
. . . . . . g.58285
ttttttcaaaaaaagcacaaattaaagtagtaaattcatatccatagatagttcattcat c.*1800
. . . . . . g.58345
tcaacaaatatttaccaagttcctaatataagtgaaggaccacttctcatattagattac c.*1860
. . . . . . g.58405
taagtcatttgtatgaatatgtgtggcagtgaagagaacaggtctttcaaaaagcatttg c.*1920
. . . . . . g.58465
attattttttttaaatacactctcttatttttctacttgtttttttgttaatcatagcag c.*1980
. . . . . . g.58525
gatatgacaactcttatttgaattgattttttcatctaatgtaataatggaagccaaagt c.*2040
. . . . . . g.58585
attcatatttcttaagatagccctaaatgtactcttgaacttcttactggaacaatgttt c.*2100
. . . . . . g.58645
gatactctagtatgtaagctgtatttatgtaatatttagaacgacatgttaataaacaaa c.*2160
. g.58661
gtaacattaaaacagg c.*2176
(downstream sequence)
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