(used for variant description)
(last modified March 30, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001134363.1 in the RBM20 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering RBM20 transcript NM_001134363.1.
(upstream sequence)
. . . . . g.5058
ccgggaccgcccctcccttgagctctctcgccgcgatcccgggcgggtctcgccccgc c.-1
. . . . . . g.5118
ATGGTGCTGGCAGCAGCCATGAGCCAGGACGCGGACCCCAGCGGTCCGGAGCAGCCGGAC c.60
M V L A A A M S Q D A D P S G P E Q P D p.20
. . . . . . g.5178
AGAGTTGCCTGCAGTGTGCCTGGTGCCCGGGCGTCCCCGGCACCCTCCGGCCCGCGAGGG c.120
R V A C S V P G A R A S P A P S G P R G p.40
. . . . . . g.5238
ATGCAGCAGCCGCCGCCGCCGCCCCAGCCACCGCCCCCGCCCCAAGCCGGCCTACCCCAG c.180
M Q Q P P P P P Q P P P P P Q A G L P Q p.60
. | 02 . . . . . g.141453
ATCATCCAAAA | TGCCGCCAAGCTCCTGGACAAGAACCCATTCTCGGTCAGTAACCCGAAC c.240
I I Q N | A A K L L D K N P F S V S N P N p.80
. . . . . . g.141513
CCTCTGCTTCCTTCACCTGCCAGTCTCCAGCTGGCTCAACTGCAGGCCCAGCTCACCCTC c.300
P L L P S P A S L Q L A Q L Q A Q L T L p.100
. . . . . . g.141573
CACCGGCTGAAGCTGGCACAGACAGCTGTCACCAACAACACTGCAGCCGCCACAGTCCTG c.360
H R L K L A Q T A V T N N T A A A T V L p.120
. . . . . . g.141633
AACCAAGTCCTCTCCAAAGTGGCCATGTCCCAGCCTCTCTTCAATCAACTGAGGCATCCG c.420
N Q V L S K V A M S Q P L F N Q L R H P p.140
. . . . . . g.141693
TCTGTGATCACTGGCCCCCACGGCCATGCTGGGGTTCCCCAACATGCTGCAGCCATACCC c.480
S V I T G P H G H A G V P Q H A A A I P p.160
. . . . . . g.141753
AGTACCCGGTTTCCCTCTAATGCAATTGCCTTTTCACCCCCCAGCCAGACACGAGGCCCC c.540
S T R F P S N A I A F S P P S Q T R G P p.180
. . . . . . g.141813
GGACCCTCCATGAACCTTCCCAACCAGCCACCCAGTGCCATGGTGATGCATCCTTTCACT c.600
G P S M N L P N Q P P S A M V M H P F T p.200
. . . . . . g.141873
GGGGTAATGCCTCAGACCCCTGGCCAGCCAGCAGTCATCTTGGGCATTGGCAAGACTGGG c.660
G V M P Q T P G Q P A V I L G I G K T G p.220
. . . . . . g.141933
CCTGCTCCAGCTACAGCAGGATTCTATGAGTATGGCAAAGCCAGCTCTGGCCAGACATAT c.720
P A P A T A G F Y E Y G K A S S G Q T Y p.240
. . . . . . g.141993
GGCCCTGAAACAGATGGTCAGCCTGGCTTCCTGCCATCCTCGGCCTCAACCTCGGGCAGT c.780
G P E T D G Q P G F L P S S A S T S G S p.260
. . . . . . g.142053
GTGACCTATGAAGGGCACTACAGCCACACAGGGCAGGATGGTCAAGCTGCCTTTTCCAAA c.840
V T Y E G H Y S H T G Q D G Q A A F S K p.280
. . . . . . g.142113
GATTTTTACGGACCCAACTCCCAAGGTTCACATGTGGCCAGCGGATTTCCAGCTGAGCAG c.900
D F Y G P N S Q G S H V A S G F P A E Q p.300
. . . . . . g.142173
GCTGGGGGCCTGAAAAGTGAGGTCGGGCCACTGCTGCAGGGCACAAACAGCCAATGGGAG c.960
A G G L K S E V G P L L Q G T N S Q W E p.320
. . . . . . g.142233
AGCCCCCATGGATTCTCGGGCCAAAGCAAGCCTGATCTCACAGCAGGTCCCATGTGGCCT c.1020
S P H G F S G Q S K P D L T A G P M W P p.340
. . . . . . g.142293
CCACCCCACAACCAGCCCTATGAGCTGTACGACCCCGAGGAACCAACCTCAGACAGGACA c.1080
P P H N Q P Y E L Y D P E E P T S D R T p.360
. . . . . . g.142353
CCTCCTTCCTTCGGGGGTCGGCTTAACAACAGCAAACAGGGTTTTATCGGTGCTGGGCGG c.1140
P P S F G G R L N N S K Q G F I G A G R p.380
. . . . . . g.142413
AGGGCCAAGGAGGACCAGGCGTTGCTATCTGTGCGGCCCCTGCAGGCTCATGAGCTGAAC c.1200
R A K E D Q A L L S V R P L Q A H E L N p.400
. . . . . . g.142473
GACTTTCACGGTGTGGCCCCCCTCCACTTGCCGCATATCTGTAGCATCTGTGACAAGAAG c.1260
D F H G V A P L H L P H I C S I C D K K p.420
. | 03 . . . . . g.144014
GTGTTTGATTTGAAG | GACTGGGAGCTGCATGTGAAAGGGAAGCTGCACGCTCAGAAATGC c.1320
V F D L K | D W E L H V K G K L H A Q K C p.440
. | 04. . . . . g.144987
CTGGTCTTCTCTGAAAA | TGCTGGCATCCGGTGTATACTTGGTTCGGCAGAGGGAACATTG c.1380
L V F S E N | A G I R C I L G S A E G T L p.460
. . . . | 05 . g.145406
TGTGCTTCTCCCAACAGCACAGCTGTTTATAACCCTGCTGGGAATGAAG | ATTATGCCTCA c.1440
C A S P N S T A V Y N P A G N E D | Y A S p.480
. . . . . . g.145466
AATCTTGGAACATCATACGTGCCCATTCCAGCAAGGTCATTCACTCAGTCAAGCCCCACA c.1500
N L G T S Y V P I P A R S F T Q S S P T p.500
. . | 06. . . . g.158144
TTTCCTTTGGCTTCTGTGGGGACAACT | TTTGCACAGCGGAAAGGGGCTGGCCGTGTGGTG c.1560
F P L A S V G T T | F A Q R K G A G R V V p.520
. . . . . . g.158204
CACATCTGCAATCTCCCTGAAGGAAGCTGCACTGAGAATGACGTCATTAACCTGGGGCTG c.1620
H I C N L P E G S C T E N D V I N L G L p.540
. . . . | 07 . g.160402
CCCTTTGGAAAGGTCACTAATTACATCCTCATGAAGTCGACTAATCAG | GCCTTTTTAGAG c.1680
P F G K V T N Y I L M K S T N Q | A F L E p.560
. . . . . . g.160462
ATGGCTTACACAGAAGCTGCACAGGCCATGGTCCAGTATTATCAAGAAAAATCTGCTGTG c.1740
M A Y T E A A Q A M V Q Y Y Q E K S A V p.580
. . . . . . g.160522
ATCAATGGTGAGAAGTTGCTCATTCGGATGTCCAAGAGATACAAGGAATTGCAGCTCAAG c.1800
I N G E K L L I R M S K R Y K E L Q L K p.600
| 08 . . . . . . g.171046
| AAACCCGGGAAGGCCGTGGCTGCCATCATCCAGGACATCCATTCCCAGAGGGAGAGGGAC c.1860
| K P G K A V A A I I Q D I H S Q R E R D p.620
. . | 09 . . . . g.172921
ATGTTCCGGGAAGCAGACAG | ATATGGCCCAGAAAGGCCGCGGTCTCGTAGTCCGGTGAGC c.1920
M F R E A D R | Y G P E R P R S R S P V S p.640
. . . . . . g.172981
CGGTCACTCTCCCCGAGGTCCCACACTCCCAGCTTCACCTCCTGCAGCTCTTCCCACAGC c.1980
R S L S P R S H T P S F T S C S S S H S p.660
. . . . . . g.173041
CCTCCGGGCCCCTCCCGGGCTGACTGGGGCAATGGCCGGGACTCCTGGGAGCACTCTCCC c.2040
P P G P S R A D W G N G R D S W E H S P p.680
. . . . . . g.173101
TATGCCAGGAGGGAGGAAGAGCGAGACCCGGCTCCCTGGAGGGACAACGGAGATGACAAG c.2100
Y A R R E E E R D P A P W R D N G D D K p.700
. . . . . . g.173161
AGGGACAGGATGGACCCCTGGGCACATGATCGCAAACACCACCCCCGGCAACTGGACAAG c.2160
R D R M D P W A H D R K H H P R Q L D K p.720
. . . . . . g.173221
GCTGAGTTGGACGAGCGACCAGAAGGAGGGAGGCCCCACCGGGAGAAGTACCCGAGATCT c.2220
A E L D E R P E G G R P H R E K Y P R S p.740
. . . . . . g.173281
GGGTCTCCCAACCTGCCCCACTCTGTGTCCAGCTACAAAAGCCGTGAAGACGGCTACTAC c.2280
G S P N L P H S V S S Y K S R E D G Y Y p.760
. . . . . . g.173341
CGGAAAGAGCCCAAAGCCAAGTGGGACAAGTATCTGAAGCAGCAGCAGGATGCCCCCGGG c.2340
R K E P K A K W D K Y L K Q Q Q D A P G p.780
. . . . . . g.173401
AGGTCCAGGAGGAAAGACGAGGCCAGGCTGCGGGAAAGCAGACACCCCCATCCGGATGAC c.2400
R S R R K D E A R L R E S R H P H P D D p.800
. . . . . . g.173461
TCAGGCAAGGAAGATGGGCTGGGGCCAAAGGTCACTAGGGCCCCTGAGGGCGCCAAGGCC c.2460
S G K E D G L G P K V T R A P E G A K A p.820
. . . . . . g.173521
AAGCAGAATGAGAAAAATAAAACCAAGAGAACTGATAGAGACCAAGAAGGAGCTGATGAT c.2520
K Q N E K N K T K R T D R D Q E G A D D p.840
. . . | 10 . . . g.180705
AGAAAAGAAAACACAATGGCAGAGAATGAG | GCTGGAAAAGAGGAACAGGAGGGCATGGAA c.2580
R K E N T M A E N E | A G K E E Q E G M E p.860
. . . . . . g.180765
GAAAGCCCTCAATCAGTGGGCAGACAGGAGAAAGAAGCAGAGTTCTCTGATCCGGAAAAC c.2640
E S P Q S V G R Q E K E A E F S D P E N p.880
. | 11 . . . . . g.181923
ACAAGGACAAAGAAG | GAACAAGATTGGGAGAGTGAAAGTGAGGCAGAGGGGGAGAGCTGG c.2700
T R T K K | E Q D W E S E S E A E G E S W p.900
. . . . . . g.181983
TATCCCACTAACATGGAGGAGCTGGTGACAGTGGACGAGGTTGGGGAAGAAGAAGATTTT c.2760
Y P T N M E E L V T V D E V G E E E D F p.920
. . . . . . g.182043
ATCGTGGAACCAGACATCCCAGAGCTGGAAGAAATTGTGCCCATTGACCAGAAAGACAAA c.2820
I V E P D I P E L E E I V P I D Q K D K p.940
. . . . . . g.182103
ATTTGCCCAGAAACATGTCTGTGTGTGACAACCACCTTAGACTTAGACCTGGCCCAGGAT c.2880
I C P E T C L C V T T T L D L D L A Q D p.960
. . . . . . g.182163
TTCCCCAAGGAAGGAGTCAAGGCCGTAGGGAATGGGGCTGCAGAAATCAGCCTCAAGTCA c.2940
F P K E G V K A V G N G A A E I S L K S p.980
. . . . . . g.182223
CCCAGAGAACTGCCCTCTGCTTCCACAAGCTGTCCCAGTGACATGGACGTGGAAATGCCT c.3000
P R E L P S A S T S C P S D M D V E M P p.1000
. . . . . . g.182283
GGCCTAAATCTGGATGCTGAGCGGAAGCCAGCTGAAAGTGAGACAGGCCTCTCCCTGGAG c.3060
G L N L D A E R K P A E S E T G L S L E p.1020
. . . . . . g.182343
GATTCAGATTGCTACGAGAAGGAGGCAAAGGGAGTGGAGAGCTCAGATGTTCATCCAGCC c.3120
D S D C Y E K E A K G V E S S D V H P A p.1040
. . . . . . g.182403
CCTACAGTCCAGCAAATGTCTTCCCCTAAGCCAGCAGAGGAGAGGGCCCGGCAGCCAAGC c.3180
P T V Q Q M S S P K P A E E R A R Q P S p.1060
. . . . . . g.182463
CCATTTGTGGATGATTGCAAGACCAGGGGGACCCCCGAAGATGGGGCTTGTGAAGGCAGC c.3240
P F V D D C K T R G T P E D G A C E G S p.1080
. . . . . . g.182523
CCCCTGGAGGAGAAAGCCAGCCCCCCCATCGAAACTGACCTCCAAAACCAAGCTTGCCAA c.3300
P L E E K A S P P I E T D L Q N Q A C Q p.1100
. | 12 . . . . . g.184127
GAAGTGTTGACCCCGG | AAAACTCCAGGTACGTGGAAATGAAATCTCTGGAGGTGAGGTCA c.3360
E V L T P E | N S R Y V E M K S L E V R S p.1120
. . . . . . g.184187
CCAGAGTACACTGAAGTGGAACTGAAACAGCCCCTTTCTTTGCCCTCTTGGGAACCAGAG c.3420
P E Y T E V E L K Q P L S L P S W E P E p.1140
. . . | 13 . . . g.191693
GATGTGTTCAGTGAACTTAGCATTCCTCTAG | GGGTGGAGTTCGTGGTTCCCAGGACTGGC c.3480
D V F S E L S I P L G | V E F V V P R T G p.1160
. . . . . . g.191753
TTTTATTGCAAGCTGTGTGGGCTGTTCTACACGAGCGAGGAGACAGCAAAGATGAGCCAC c.3540
F Y C K L C G L F Y T S E E T A K M S H p.1180
. . . | 14 . . . g.196498
TGCCGCAGCGCTGTCCACTACAGGAACTTACAG | AAATATTTGTCCCAGCTGGCCGAGGAG c.3600
C R S A V H Y R N L Q | K Y L S Q L A E E p.1200
. . . . . . g.196558
GGCCTCAAGGAGACCGAGGGGGCAGATAGCCCGAGGCCAGAGGACAGCGGAATCGTGCCA c.3660
G L K E T E G A D S P R P E D S G I V P p.1220
. . g.196582
CGCTTCGAAAGGAAAAAGCTCTGA c.3684
R F E R K K L X p.1227
. . . . . . g.196642
tgcttctgcttctgctgctactgctgctgctgcaaggttggaaaggagagcttgctgaag c.*60
. . . . . . g.196702
tggggccttcctgattctggggacaggactaaagcctgagaggaaggaaaaccaagcagg c.*120
. . . . . . g.196762
gcacattgcttgggcttgttcccagagactcagtgaaatgcccctgatatgtctccagga c.*180
. . . . . . g.196822
gcaagtcacccaggtgtgtccagcccactgagggtcaccaactctctccctgctgactct c.*240
. . . . . . g.196882
tgtttctctcaatctttcaattcgtttttctctcttttcctcttgttctttctctccctc c.*300
. . . . . . g.196942
cctccttatgtgccaaggatcgtttccttttcacaaaacccaacttctcagggattttca c.*360
. . . . . . g.197002
cagtgtttaaattcttggtaggatataacaggtcaggcctagctgagtcaggcaaggaaa c.*420
. . . . . . g.197062
aggtttaatggaaactcctgggtcaggcgaacccctgcagtgagtctacagcagtatctc c.*480
. . . . . . g.197122
tgcctggtgtcccatgtatcccctgcatgaggagctgagtcaggtctgcagtcctggtga c.*540
. . . . . . g.197182
ggggacatcacggacaatctgttggcagagctgggagggtcttcattaacctcttcctcc c.*600
. . . . . . g.197242
aactgggccacccttttgaaaagcccctgtttttaataactgtttcatcctctcagttat c.*660
. . . . . . g.197302
tctagaaatctgccagacttatgccttaaagtaaaattaaatgaattttagagaagatga c.*720
. . . . . . g.197362
aaagagcccttcattttggaagctctgataagtttcctccaaacttattcccctcctctt c.*780
. . . . . . g.197422
gatttcaggagatgtcagggtttttctattctggacaatgaatttggtacagagtcactg c.*840
. . . . . . g.197482
taattaaatataaaaacagaagcatcttcctccagctaaagcagcagttggcgcgggctt c.*900
. . . . . . g.197542
aggttgaatgctggcctctctgcaaagcacagctttggctcgagaggcacagctccaggc c.*960
. . . . . . g.197602
tgtggaaaacagagttgtcttgggggttaaatgagcttatttaagtcaaggaaacatcat c.*1020
. . . . . . g.197662
ctgtccttgattcagccttggtgcctgcactctggggtacaaccacctcacagtaggatg c.*1080
. . . . . . g.197722
gtttttaaatggccccccagttgggggagaagctaaggaaagagaaggctgcagatccaa c.*1140
. . . . . . g.197782
agagtggcattgaagtttgctgggtgtctgtaggtggaccctttccagctgggcagatag c.*1200
. . . . . . g.197842
ttgagggctccctgggtttgactgtatgtgcagactttgataccaaaatgttatgaaaag c.*1260
. . . . . . g.197902
tcgtgattcccgctgctctttctggtactggagggtgggtaccttcaggctgtggggtct c.*1320
. . . . . . g.197962
ctagcctgatattccattgaaagggtgtgggataaaggtgctgggggaaatgaggctctg c.*1380
. . . . . . g.198022
ccacagccatagagaggccctcgggcagttaagaagggagcctggagctgttttcatgag c.*1440
. . . . . . g.198082
cagagatactctcctgaaagcacccttcatagcttagcccaggaaaaataaaacaaggaa c.*1500
. . . . . . g.198142
gacaggtcactctcccctaggcagttcctgttgtttctgttcctgaccttgggcaggcag c.*1560
. . . . . . g.198202
actgagaagggactgtgtagggttttgttttgttttttttcattttcctttttatggcat c.*1620
. . . . . . g.198262
gtgagagcatactgtacattctgtcctctgtactaatggaggaagggcagagagattagt c.*1680
. . . . . . g.198322
tcaaggctaacattttatatcaggtaactgaggcacacaaagggaacaaatgaagaacat c.*1740
. . . . . . g.198382
aaaatgatcagtgtaaacctgaaagcacgcagtcattggcaagggacaggctcatgggag c.*1800
. . . . . . g.198442
ctggtgagagagagcagttaaggcaagcaccaggggaaagcagaccaacttgaacagatg c.*1860
. . . . . . g.198502
tgatgcggagaggttggaagaagcaagaaacctgaactcatcatcaggctattaaataaa c.*1920
. . . . . . g.198562
atttataggaggctgttggtttggactgagctcctgcaataggcccaacagaccaaaaca c.*1980
. . . . . . g.198622
aaagggagtcactcatgttgaagttctgtcttccaggaaatcaggagagagagagagaga c.*2040
. . . . . . g.198682
aagaatagccaaatccccaaacaggccagttttaaccagcatgatgaagtgtccttggtt c.*2100
. . . . . . g.198742
ttaacctttataaggaaagcagctttgagatgaccagtctggtttttgttctttgtgtct c.*2160
. . . . . . g.198802
gctttcctcagcccttttctgtctataaagccaacctcctccgctcagctcatgggaaca c.*2220
. . . . . . g.198862
ctcattctattttatagaatgacatgttgcccaattctagaatcaaaaataaaggccaac c.*2280
. . . . . . g.198922
taagatcttcaaagtaaatttgttgtaattttatcttttgagaagaccatatgggggctg c.*2340
. . . . . . g.198982
ctgaaaagttggtatctcaaataaagtctgaagatcacggctcagcccagattgttcccc c.*2400
. . . . . . g.199042
tggccaactccacaggtttgaacctggcattctggacaccagctatgcctcctccatttc c.*2460
. . . . . . g.199102
tcagaaaacctttgatcttgtgtgtctttcttcctactgaagggaattgtgggggcagtt c.*2520
. . . . . . g.199162
ctttggccttcttgctgaactttgctggaaatagcccacaatttttatcagaggttagaa c.*2580
. . . . . . g.199222
ctgtacattatcagagagactggacactttatcccctagcaaagtgggagaagattttac c.*2640
. . . . . . g.199282
cagctcattccactccaccctggccttcccccaccccccatccccagcagcatttccatg c.*2700
. . . . . . g.199342
gaaatccagatggtcgtgtagtgttatggctctcttgtgatagactggccttcatattgg c.*2760
. . . . . . g.199402
agagctagggagagcccctgggagggagagagataaggcgctatctgccttcaatcagaa c.*2820
. . . . . . g.199462
ccttcggtttaaaatcatctaagagtctatacttgtgtgtacatacgtatttatttttat c.*2880
. . . . . . g.199522
ttatttttatacaattccattggcatggtccttcaccgaccctatgatttgcacttttta c.*2940
. . . . . . g.199582
tttctatgtgtgccacacacaatgcagtattaatggcaaccaggtaaatattgatttatt c.*3000
. . . . . . g.199642
ttttaaagcttttcttcagtgttttgtcaaccatttcaaagtgtctcccaaaaaaggatg c.*3060
. . . . . . g.199702
ctgaagagcaattgctcccttaagcaacagattcatatttaccctgggttaatacaacaa c.*3120
. . . . . . g.199762
aaggcctgtataattgtcttttcattgttaacacccaaaatagcatctatctagacagta c.*3180
. . . . . . g.199822
tccccaaagaatttggaaaatctgatggtgtgagcagcagccgttagtatcagggtttcc c.*3240
. . . . . . g.199882
cattcttggacagtccgaggctgtgacctgttagataattagattatacttgaactggac c.*3300
. . . . . . g.199942
cagagtttgttttttgaatttatgagaaaaaccaaaacactaagttaagtttgaacttgt c.*3360
. . . . . . g.200002
aaagtattgaaatttgttgagtgtcctataaattgtcactacttttcctgatctgtataa c.*3420
. . . . . . g.200062
ctgactgcaaagtgtttgtttttacaaaagagaaaagaaaagatttttaataaagagaat c.*3480
. g.200073
ttgaaagctgt c.*3491
(downstream sequence)
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