(used for variant description)
(last modified June 21, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_018989.1 in the RBM27 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering RBM27 transcript NM_018989.1.
(upstream sequence)
. . . . g.5046
gggttagttcctgttaggccccggccgggggagtaggttgaagtct c.-121
. . . . . . g.5106
cctaagatgcccggtgggctggggcaccgggagctgtgaagggaacgtgagggggcggcg c.-61
. . . . . . g.5166
tagtggagacccacggcaggcctgaagaagagcggcggccgagcccgccttccctgcacc c.-1
. . . . . | 02 g.20386
ATGCTCATAGAGGATGTGGATGCCCTCAAGTCCTGGCTGGCCAAGTTACTGGAGCCGAT | A c.60
M L I E D V D A L K S W L A K L L E P I | p.20
. . . . . . g.20446
TGTGATGCTGATCCTTCAGCCTTAGCCAACTATGTTGTAGCACTGGTCAAGAAGGACAAA c.120
C D A D P S A L A N Y V V A L V K K D K p.40
. . . . . | 03 g.24805
CCTGAGAAAGAATTAAAAGCCTTTTGTGCTGATCAACTTGATGTCTTTTTACAAAAAG | AA c.180
P E K E L K A F C A D Q L D V F L Q K E | p.60
. . . . . . g.24865
ACTTCAGGTTTTGTGGACAAACTATTTGAAAGTCTCTATACTAAGAACTACCTTCCACTT c.240
T S G F V D K L F E S L Y T K N Y L P L p.80
. . . . . . g.24925
TTGGAACCAGTAAAGCCTGAGCCAAAACCACTAGTCCAAGAAAAAGAAGAAATTAAAGAA c.300
L E P V K P E P K P L V Q E K E E I K E p.100
| 04 . . . . . . g.30403
GAG | GTATTTCAGGAGCCAGCAGAGGAAGAACGAGATGGCAGAAAAAAGAAATATCCTAGT c.360
E | V F Q E P A E E E R D G R K K K Y P S p.120
. . . | 05 . . . g.31142
CCCCAGAAGACTCGTTCAGAATCTAGTGAACGAAG | GACACGTGAGAAAAAAAGAGAAGAC c.420
P Q K T R S E S S E R R | T R E K K R E D p.140
. . . . . . g.31202
GGGAAATGGAGAGACTATGACCGGTACTATGAGCGGAATGAATTGTACCGTGAGAAGTAT c.480
G K W R D Y D R Y Y E R N E L Y R E K Y p.160
. . . . . . g.31262
GACTGGAGAAGAGGCAGGAGTAAGAGTCGGAGTAAGAGTCGAGGCCTGAGTCGCAGTAGA c.540
D W R R G R S K S R S K S R G L S R S R p.180
. . . . | 06 . g.32068
AGCCGAAGTAGGGGGCGCAGCAAAGACCGGGATCCAAATAGGAATGTTG | AGCACAGGGAA c.600
S R S R G R S K D R D P N R N V E | H R E p.200
. . . . . . g.32128
AGATCGAAGTTTAAGAGTGAAAGGAATGACCTGGAGAGTTCCTATGTGCCTGTGTCTGCA c.660
R S K F K S E R N D L E S S Y V P V S A p.220
. . . . . . g.32188
CCACCTCCAAACTCTTCTGAGCAGTATTCCTCTGGGGCACAGTCTATTCCCAGCACTGTT c.720
P P P N S S E Q Y S S G A Q S I P S T V p.240
. . . . . . g.32248
ACTGTGATCGCACCTGCTCACCACTCTGAAAACACAACTGAGAGTTGGTCTAATTACTAT c.780
T V I A P A H H S E N T T E S W S N Y Y p.260
. . . . . . g.32308
AACAATCATAGCTCTTCCAATTCTTTTGGTCGAAACCTACCACCAAAGAGGCGATGCAGA c.840
N N H S S S N S F G R N L P P K R R C R p.280
. | 07 . . . . . g.34900
GATTATGATG | AAAGAGGATTTTGTGTACTTGGTGACCTTTGTCAGTTTGATCATGGAAAT c.900
D Y D E | R G F C V L G D L C Q F D H G N p.300
. . . . . . g.34960
GATCCCCTAGTTGTTGATGAAGTTGCTCTGCCAAGTATGATTCCTTTCCCACCCCCTCCT c.960
D P L V V D E V A L P S M I P F P P P P p.320
. . . . . . g.35020
CCTGGGCTTCCTCCTCCACCACCTCCTGGAATGTTAATGCCTCCAATGCCAGGTCCAGGC c.1020
P G L P P P P P P G M L M P P M P G P G p.340
. . . . . . g.35080
CCAGGCCCGGGCCCAGGTCCAGGCCCAGGCCCGGGCCCAGGTCCAGGTCCTGGCCATAGT c.1080
P G P G P G P G P G P G P G P G P G H S p.360
. . . . . . g.35140
ATGAGACTTCCTGTTCCCCAAGGACATGGTCAGCCTCCACCATCCGTTGTGCTTCCCATA c.1140
M R L P V P Q G H G Q P P P S V V L P I p.380
| 08 . . . . . . g.38754
CCAA | GACCACCTATAACACAATCAAGCTTGATAAACAGCCGTGACCAGCCTGGGACAAGT c.1200
P R | P P I T Q S S L I N S R D Q P G T S p.400
. . . . . . g.38814
GCAGTGCCCAATCTTGCATCAGTGGGAACAAGACTACCTCCTCCTTTACCCCAGAACCTC c.1260
A V P N L A S V G T R L P P P L P Q N L p.420
. | 09 . . . . g.53152
CTTTACACAGTATCAGAAC | GACAGCCCATGTACTCTCGTGAACATGGTGCTGCTGCATCT c.1320
L Y T V S E R | Q P M Y S R E H G A A A S p.440
. . . . . . g.53212
GAGCGACTTCAGTTGGGGACACCGCCTCCTCTGTTGGCAGCTCGTTTGGTGCCACCTCGA c.1380
E R L Q L G T P P P L L A A R L V P P R p.460
. . . . . . g.53272
AACCTCATGGGATCCTCCATTGGATACCATACCTCAGTCTCCAGCCCTACCCCTCTGGTT c.1440
N L M G S S I G Y H T S V S S P T P L V p.480
| 10 . . . . . . g.56399
CCAG | ATACATATGAACCAGATGGTTACAACCCAGAAGCTCCTAGTATTACTAGTTCTGGT c.1500
P D | T Y E P D G Y N P E A P S I T S S G p.500
. . . . . . g.56459
AGATCTCAGTACAGACAGTTCTTTTCAAGAACTCAGACACAGCGTCCCAATCTGATTGGC c.1560
R S Q Y R Q F F S R T Q T Q R P N L I G p.520
. . . | 11 . . . g.59875
CTAACATCTGGAGATATGGATGTAAATCCAAGAG | CTGCTAACATTGTGATCCAGACTGAA c.1620
L T S G D M D V N P R A | A N I V I Q T E p.540
. . . . . . g.59935
CCACCAGTTCCTGTTTCGATTAATAGCAACATAACCAGAGTAGTTCTTGAACCAGATAGT c.1680
P P V P V S I N S N I T R V V L E P D S p.560
. . . . . | 12 g.62146
CGAAAAAGAGCTATGAGTGGTTTGGAAGGGCCACTCACAAAGAAACCTTGGCTGGGAAA | G c.1740
R K R A M S G L E G P L T K K P W L G K | p.580
. . . . . . g.62206
CAAGGAAATAACAATCAAAATAAACCAGGGTTCTTACGAAAGAATCAGTATACAAACACC c.1800
Q G N N N Q N K P G F L R K N Q Y T N T p.600
. . . . . . g.62266
AAATTAGAAGTCAAGAAAATCCCTCAGGAATTGAACAACATTACCAAGCTCAATGAACAC c.1860
K L E V K K I P Q E L N N I T K L N E H p.620
. . . | 13 . . . g.62937
TTCAGCAAATTTGGAACTATTGTTAATATCCAG | GTTGCTTTTAAGGGTGACCCAGAAGCA c.1920
F S K F G T I V N I Q | V A F K G D P E A p.640
. . . . . . g.62997
GCCCTAATCCAATATCTTACCAATGAGGAGGCCAGGAAAGCCATTTCTAGCACAGAAGCA c.1980
A L I Q Y L T N E E A R K A I S S T E A p.660
. . . . . . g.63057
GTTCTAAACAACCGATTCATTCGAGTCTTGTGGCATAGGGAAAATAATGAGCAACCGACA c.2040
V L N N R F I R V L W H R E N N E Q P T p.680
. . . . . . g.63117
CTACAGTCCTCAGCACAGCTGCTCCTGCAACAACAGCAAACACTTAGTCACCTCTCACAG c.2100
L Q S S A Q L L L Q Q Q Q T L S H L S Q p.700
. . . . . . g.63177
CAGCACCATCACCTGCCACAGCATCTACATCAGCAGCAGGTGCTAGTGGCCCAGTCTGCT c.2160
Q H H H L P Q H L H Q Q Q V L V A Q S A p.720
. . . | 14 . . . g.64921
CCTTCAACAGTGCACGGAGGTATCCAGAAG | ATGATGAGCAAACCACAGACATCAGGTGCA c.2220
P S T V H G G I Q K | M M S K P Q T S G A p.740
. . . . . . g.64981
TATGTTCTTAACAAAGTTCCTGTTAAACATCGTCTTGGACATGCAGGTGGTAACCAGAGT c.2280
Y V L N K V P V K H R L G H A G G N Q S p.760
. . . . . | 15 . g.69058
GATGCATCACATTTGTTGAATCAGTCTGGTGGTGCTGGAGAAGATTGCCAG | ATATTTTCA c.2340
D A S H L L N Q S G G A G E D C Q | I F S p.780
. . . . . . g.69118
ACTCCAGGCCATCCAAAAATGATTTACAGCTCCTCAAACTTAAAGACACCTTCAAAGCTC c.2400
T P G H P K M I Y S S S N L K T P S K L p.800
. . . . . | 16 . g.70616
TGTTCAGGGTCTAAATCTCATGATGTTCAAGAAGTGCTTAAAAAAAAACAG | GAAGCAATG c.2460
C S G S K S H D V Q E V L K K K Q | E A M p.820
. . . . . . g.70676
AAGTTACAACAAGATATGAGGAAAAAAAGACAGGAAGTGTTAGAAAAGCAAATAGAATGC c.2520
K L Q Q D M R K K R Q E V L E K Q I E C p.840
| 17 . . . . . . g.70874
CAAAAG | ATGTTAATATCCAAGTTAGAAAAAAACAAAAACATGAAACCAGAAGAAAGAGCA c.2580
Q K | M L I S K L E K N K N M K P E E R A p.860
. . . . . . g.70934
AATATAATGAAGACTTTGAAAGAGCTTGGAGAGAAGATCTCACAATTAAAAGATGAATTA c.2640
N I M K T L K E L G E K I S Q L K D E L p.880
. . . . . | 18 . g.72363
AAAACATCTTCTGCAGTCTCCACACCATCTAAAGTGAAGACAAAAACGGAG | GCCCAGAAG c.2700
K T S S A V S T P S K V K T K T E | A Q K p.900
. . . . . . g.72423
GAGTTATTAGATACTGAACTGGACCTCCACAAGAGGCTGTCCTCAGGAGAAGACACCACA c.2760
E L L D T E L D L H K R L S S G E D T T p.920
. . . | 19 . . . g.72907
GAATTACGGAAAAAACTCAGTCAGTTACAGGTTGAG | GCTGCACGGTTAGGTATTTTACCT c.2820
E L R K K L S Q L Q V E | A A R L G I L P p.940
. . . . . . g.72967
GTGGGTCGAGGAAAGACCATGTCCTCTCAAGGTCGAGGAAGAGGCCGAGGGCGTGGAGGA c.2880
V G R G K T M S S Q G R G R G R G R G G p.960
. . . . . . g.73027
AGAGGAAGGGGCTCACTAAATCACATGGTGGTGGACCATCGTCCCAAAGCACTAACAGTT c.2940
R G R G S L N H M V V D H R P K A L T V p.980
. . . . | 20 . g.86034
GGAGGATTCATTGAGGAAGAAAAAGAAGACTTGCTTCAGCATTTCTCA | ACCGCAAACCAA c.3000
G G F I E E E K E D L L Q H F S | T A N Q p.1000
. . . . . . g.86094
GGGCCAAAATTTAAAGACCGTCGGCTACAGATATCATGGCACAAGCCCAAGGTACCATCT c.3060
G P K F K D R R L Q I S W H K P K V P S p.1020
. . . | 21 . . g.87368
ATATCCACTGAGACTGAAGAAGAAGAAGTCAAGGAGGAG | GAAACAGAAACCTCAGATTTG c.3120
I S T E T E E E E V K E E | E T E T S D L p.1040
. . . . . . g.87428
TTTTTGCCTGATGATGACGATGAAGATGAAGATGAATATGAGTCTCGCTCATGGCGAAGA c.3180
F L P D D D D E D E D E Y E S R S W R R p.1060
g.87431
TGA c.3183
X p.1060
. . . . . . g.87491
aatctgatgctagctgtataatttttaggaatattgtttagaagaacaacttttaaaaat c.*60
. . . . . . g.87551
tatttaaaagaagtcaatgagccaaaaaaaatttttttatttttcttttcaacacagtag c.*120
. . . . . . g.87611
gttcaagaacagcaagtttgctatttaaacacatctcataactgtacatgatattaaagc c.*180
. . . . . . g.87671
accaaaggcctagtgacttttacacagttgtgaagatccacagcaatgacatggataatc c.*240
. . . . . . g.87731
tctagagccttattttccacaccaccttttttttgttgctgttggtgttggattatgatg c.*300
. . . . . . g.87791
taaatgacagggtgttcagaaattttattttggattataatctactgataaaatttaatt c.*360
. . . . . . g.87851
aaatgtcaaaatcacctgtaatcttttaactctcagttgttatggatgggtcatcagaca c.*420
. . . . . . g.87911
gtaggaaatatttgtaattaaaatacccttttgctttcaagagtggtcttggaagaaaaa c.*480
. . . . . . g.87971
tatgtttattttaattttaatttttttttttttttactttggaggagcccaatttgtatt c.*540
. . . . . . g.88031
cagtctaaatttgtttttcatggtttttatgtgtggtagtactagttcagtgaaaatcac c.*600
. . . . . . g.88091
aacaaactgtgtgttcttaaatgctacagcaatggtagctagctctatagtatttccatt c.*660
. . . . . . g.88151
ctcttgtcatatgaactcctggacttttcctgctactgattcttagtttgctttgatatt c.*720
. . . . . . g.88211
tagtgagcgctggttcggctggtctttttaaaaatttttataactcagaatgtaaaaggc c.*780
. . . . . . g.88271
tttcacctattgcccctttctcgtcccccttttcttcctcttgcctttctattaataggc c.*840
. . . . . . g.88331
ctgacttagtcatcattgatataagtggttcatttgggcaaccgcaggcagtctccaata c.*900
. . . . . . g.88391
aaaggttcaaaccagcacctggataaataagtgatgttttgatgagaatgatggaaggat c.*960
. . . . . . g.88451
tttggggagaagagaatcaccagctttattttttccctcttttgaagcttcagttcagta c.*1020
. . . . . . g.88511
tagttacacagaagggtttaaaaatgtctgaaattcttttcctaaatttaaaccatgatg c.*1080
. . . . . . g.88571
gtgaggtgactggggggtggggggtggaggtgggagggggttgagggctgagtatgctag c.*1140
. . . . . . g.88631
taataaatgggagtcatatatgactttgttcagatgaccttattttttcataattttgta c.*1200
. . . . . . g.88691
gcttgttgctatccatgaacatacgcatccctcagtagacagtttcctttactgtgtgca c.*1260
. . . . . . g.88751
tttttactgtacactgtatagagtagagtatctgttaagtaaaatatatatgtaaattta c.*1320
. . . . . . g.88811
tgtcttcgtgttctgaatgttagatggaaaagcagaggagcaacactacactgtactgac c.*1380
. . . . . . g.88871
ccctgggaaaataaaatgattaatgtacctaggctgtcactttttcaaggatatacacat c.*1440
. . . . . . g.88931
ctgtgtttttatatatgtgtggtatgaaaatttgaaacctcctgttgtctccaaaagggt c.*1500
. . . . . . g.88991
cttggtgaccactatatcaaggattttgtttgctgaggtaaagacaatttctcaatatag c.*1560
. . . . . . g.89051
aaactattcactaagaacttaaaaccatcaggattctagatttacttagctataagaagt c.*1620
. . . . . . g.89111
taaatcccacgttctgataatctttattcttctacatgttttcctggaatgatgtgtcaa c.*1680
. . . . . . g.89171
accagggtcatttttaagttcatataattttctttcataataatgaggacttcctttttc c.*1740
. . . . . . g.89231
taggttattgttatatttctagtaacactgaaggtaaaataagcttataaaagaaggaaa c.*1800
. . . . . . g.89291
acatcagaatggtgtatctagaatacacaatcttgctccttactcctccatcatctctaa c.*1860
. . . . . . g.89351
tgaaatttttcttgatgtctgtggctcagtcagtatatattttgaaagattcattgtggt c.*1920
. . . . . . g.89411
gaatattttgagtcctgacagtttaaacgtgatagagggaacaaaggatttatatatttt c.*1980
. . . . . . g.89471
ttgtacaaagttttttcttaaactgtataattttgtaaataatttgtttgggtttttttt c.*2040
. . . . . . g.89531
ttgtgtactaaaactaccagcgtatagatttcaataagaattgttgtatttttgtatttg c.*2100
. . . . . . g.89591
gaaactgaaaattacagtaaataaatggaactctaagaaaaatttcagtagacagttcaa c.*2160
. . . . . . g.89651
cagaatgagattccttttcatatgatttttttgacctcaaaatggacatcttatttcact c.*2220
. . . . . . g.89711
ctcagtaaaaagttgaaaatttgactttttagtattgggggcagaagatagaagtgtgtt c.*2280
. . . . . . g.89771
aaagtgaaaaacagttttttcagtaaggtttgaggccctttctataagttttcagtacac c.*2340
. . . . . . g.89831
cttaaacaggactaaaaatactttaaaagtgtgctttcaaagaattttaaaacatgtttg c.*2400
. . . . . . g.89891
actcaaagatgaatttgaagtgagttaattataatactggaaaacttcaggttagcataa c.*2460
. . . . . . g.89951
aatagtttatatatatcccctgccccctttgggatttacttccaccatcaaatcttcaac c.*2520
. . . . . . g.90011
tgttagaatttcacttaaaagtgaataactgccatacatgttttcttggcatcttcattt c.*2580
. . . . . . g.90071
acagaaataacatacagcatctaaagcaagttctgtccctcttaatgtgtatgacatctt c.*2640
. . . . . . g.90131
tttaagtagctgatcagcaataatagccaccagttgactaggtcagcctgatatactagt c.*2700
. . . . . . g.90191
ggatcactgtccaagataaaaaggtaaccccaagtattgcaaaatttccctcaatttctt c.*2760
. . . . . . g.90251
tatgtaacattgaagaaatgttgttaccagctaagatgataaattggaaaacagtcttgt c.*2820
. . . . . . g.90311
taaggtgaaaggggtccttggtgatggatcattatttcaaaaaagaaaaaaatcatgtga c.*2880
. . . . . . g.90371
aaaggaatagtggttcctcttgatgtatagtatgcctgtattatagtttttacaaaattg c.*2940
. . . . . . g.90431
tgaacttgtgtaatagtataataggagatattgttgaatttctaactgtttatacattta c.*3000
. . . . . . g.90491
aattcatatatgtaatgtttgttttatcaattacaatctgaatttctaagaagcatgttg c.*3060
. . . . . . g.90551
acttttgcaataaagatgcaatatggaatggttcacaattggaaaaaaaaaagaaaaaag c.*3120
. . . . . . g.90611
atgaaagtattacaaatttaaaagaatttggaaaatttatgaaccattccaaaaattata c.*3180
. g.90624
acaatcaccaaaa c.*3193
(downstream sequence)
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