(used for variant description)
(last modified February 4, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001111.4 in the ADAR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011844.1, covering ADAR transcript NM_001111.4.
(upstream sequence)
g.24715
gc c.-241
. . . . . . g.24775
ccctcctcttggccaaactttccggaggggaaggctttccgaggaaacgaaagcgaaatt c.-181
. . . . . . g.24835
gaaccggagccatcttgggcccggcgcgcagacccgcggagtttcccgtgccgacgcccc c.-121
. . . . . . g.24895
ggggccacttccagtgcggagtagcggaggcgtgggggcctcgaggggctggcgcggccc c.-61
. . . . . . g.24955
agcggtcgggccagggtcgtgccgccggcgggtcgggccgggcaatgcctcgcgggcgca c.-1
. | 02 . . . . . g.30380
ATGAATCCGCGGCAG | GGGTATTCCCTCAGCGGATACTACACCCATCCATTTCAAGGCTAT c.60
M N P R Q | G Y S L S G Y Y T H P F Q G Y p.20
. . . . . . g.30440
GAGCACAGACAGCTCAGGTACCAGCAGCCTGGGCCAGGATCTTCCCCCAGTAGTTTCCTG c.120
E H R Q L R Y Q Q P G P G S S P S S F L p.40
. . . . . . g.30500
CTTAAGCAAATAGAATTTCTCAAGGGGCAGCTCCCAGAAGCACCGGTGATTGGAAAGCAG c.180
L K Q I E F L K G Q L P E A P V I G K Q p.60
. . . . . . g.30560
ACACCGTCACTGCCACCTTCCCTCCCAGGACTCCGGCCAAGGTTTCCAGTACTACTTGCC c.240
T P S L P P S L P G L R P R F P V L L A p.80
. . . . . . g.30620
TCCAGTACCAGAGGCAGGCAAGTGGACATCAGGGGTGTCCCCAGGGGCGTGCATCTCGGA c.300
S S T R G R Q V D I R G V P R G V H L G p.100
. . . . . . g.30680
AGTCAGGGGCTCCAGAGAGGGTTCCAGCATCCTTCACCACGTGGCAGGAGTCTGCCACAG c.360
S Q G L Q R G F Q H P S P R G R S L P Q p.120
. . . . . . g.30740
AGAGGTGTTGATTGCCTTTCCTCACATTTCCAGGAACTGAGTATCTACCAAGATCAGGAA c.420
R G V D C L S S H F Q E L S I Y Q D Q E p.140
. . . . . . g.30800
CAAAGGATCTTAAAGTTCCTGGAAGAGCTTGGGGAAGGGAAGGCCACCACAGCACATGAT c.480
Q R I L K F L E E L G E G K A T T A H D p.160
. . . . . . g.30860
CTGTCTGGGAAACTTGGGACTCCGAAGAAAGAAATCAATCGAGTTTTATACTCCCTGGCA c.540
L S G K L G T P K K E I N R V L Y S L A p.180
. . . . . . g.30920
AAGAAGGGCAAGCTACAGAAAGAGGCAGGAACACCCCCTTTGTGGAAAATCGCGGTCTCC c.600
K K G K L Q K E A G T P P L W K I A V S p.200
. . . . . . g.30980
ACTCAGGCTTGGAACCAGCACAGCGGAGTGGTAAGACCAGACGGTCATAGCCAAGGAGCC c.660
T Q A W N Q H S G V V R P D G H S Q G A p.220
. . . . . . g.31040
CCAAACTCAGACCCGAGTTTGGAACCGGAAGACAGAAACTCCACATCTGTCTCAGAAGAT c.720
P N S D P S L E P E D R N S T S V S E D p.240
. . . . . . g.31100
CTTCTTGAGCCTTTTATTGCAGTCTCAGCTCAGGCTTGGAACCAGCACAGCGGAGTGGTA c.780
L L E P F I A V S A Q A W N Q H S G V V p.260
. . . . . . g.31160
AGACCAGACAGTCATAGCCAAGGATCCCCAAACTCAGACCCAGGTTTGGAACCTGAAGAC c.840
R P D S H S Q G S P N S D P G L E P E D p.280
. . . . . . g.31220
AGCAACTCCACATCTGCCTTGGAAGATCCTCTTGAGTTTTTAGACATGGCCGAGATCAAG c.900
S N S T S A L E D P L E F L D M A E I K p.300
. . . . . . g.31280
GAGAAAATCTGCGACTATCTCTTCAATGTGTCTGACTCCTCTGCCCTGAATTTGGCTAAA c.960
E K I C D Y L F N V S D S S A L N L A K p.320
. . . . . . g.31340
AATATTGGCCTTACCAAGGCCCGAGATATAAATGCTGTGCTAATTGACATGGAAAGGCAG c.1020
N I G L T K A R D I N A V L I D M E R Q p.340
. . . . . . g.31400
GGGGATGTCTATAGACAAGGGACAACCCCTCCCATATGGCATTTGACAGACAAGAAGCGA c.1080
G D V Y R Q G T T P P I W H L T D K K R p.360
. . . . . . g.31460
GAGAGGATGCAAATCAAGAGAAATACGAACAGTGTTCCTGAAACCGCTCCAGCTGCAATC c.1140
E R M Q I K R N T N S V P E T A P A A I p.380
. . . . . . g.31520
CCTGAGACCAAAAGAAACGCAGAGTTCCTCACCTGTAATATACCCACATCAAATGCCTCA c.1200
P E T K R N A E F L T C N I P T S N A S p.400
. . . . . . g.31580
AATAACATGGTAACCACAGAAAAAGTGGAGAATGGGCAGGAACCTGTCATAAAGTTAGAA c.1260
N N M V T T E K V E N G Q E P V I K L E p.420
. . . . . . g.31640
AACAGGCAAGAGGCCAGACCAGAACCAGCAAGACTGAAACCACCTGTTCATTACAATGGC c.1320
N R Q E A R P E P A R L K P P V H Y N G p.440
. . . . . . g.31700
CCCTCAAAAGCAGGGTATGTTGACTTTGAAAATGGCCAGTGGGCCACAGATGACATCCCA c.1380
P S K A G Y V D F E N G Q W A T D D I P p.460
. . . . . . g.31760
GATGACTTGAATAGTATCCGCGCAGCACCAGGTGAGTTTCGAGCCATCATGGAGATGCCC c.1440
D D L N S I R A A P G E F R A I M E M P p.480
. . . . . . g.31820
TCCTTCTACAGTCATGGCTTGCCACGGTGTTCACCCTACAAGAAACTGACAGAGTGCCAG c.1500
S F Y S H G L P R C S P Y K K L T E C Q p.500
. . . . . . g.31880
CTGAAGAACCCCATCAGCGGGCTGTTAGAATATGCCCAGTTCGCTAGTCAAACCTGTGAG c.1560
L K N P I S G L L E Y A Q F A S Q T C E p.520
. . . . | 03 . . g.34395
TTCAACATGATAGAGCAGAGTGGACCACCCCATGAACCTCG | ATTTAAATTCCAGGTTGTC c.1620
F N M I E Q S G P P H E P R | F K F Q V V p.540
. . . . . . g.34455
ATCAATGGCCGAGAGTTTCCCCCAGCTGAAGCTGGAAGCAAGAAAGTGGCCAAGCAGGAT c.1680
I N G R E F P P A E A G S K K V A K Q D p.560
. . . . . . g.34515
GCAGCTATGAAAGCCATGACAATTCTGCTAGAGGAAGCCAAAGCCAAGGACAGTGGAAAA c.1740
A A M K A M T I L L E E A K A K D S G K p.580
. . . . | 04 . . g.35000
TCAGAAGAATCATCCCACTATTCCACAGAGAAAGAATCAGAGAAG | ACTGCAGAGTCCCAG c.1800
S E E S S H Y S T E K E S E K | T A E S Q p.600
. . . . . . g.35060
ACCCCCACCCCTTCAGCCACATCCTTCTTTTCTGGGAAGAGCCCCGTCACCACACTGCTT c.1860
T P T P S A T S F F S G K S P V T T L L p.620
. . . . . . g.35120
GAGTGTATGCACAAATTGGGGAACTCCTGCGAATTCCGTCTCCTGTCCAAAGAAGGCCCT c.1920
E C M H K L G N S C E F R L L S K E G P p.640
. | 05 . . . . . g.35740
GCCCATGAACCCAA | GTTCCAATACTGTGTTGCAGTGGGAGCCCAAACTTTCCCCAGTGTG c.1980
A H E P K | F Q Y C V A V G A Q T F P S V p.660
. . . . . . g.35800
AGTGCTCCCAGCAAGAAAGTGGCAAAGCAGATGGCCGCAGAGGAAGCCATGAAGGCCCTG c.2040
S A P S K K V A K Q M A A E E A M K A L p.680
. . . | 06 . . g.35987
CATGGGGAGGCGACCAACTCCATGGCTTCTGATAACCAG | CCTGAAGGTATGATCTCAGAG c.2100
H G E A T N S M A S D N Q | P E G M I S E p.700
. . . . . . g.36047
TCACTTGATAACTTGGAATCCATGATGCCCAACAAGGTCAGGAAGATTGGCGAGCTCGTG c.2160
S L D N L E S M M P N K V R K I G E L V p.720
. . . . . . g.36107
AGATACCTGAACACCAACCCTGTGGGTGGCCTTTTGGAGTACGCCCGCTCCCATGGCTTT c.2220
R Y L N T N P V G G L L E Y A R S H G F p.740
. . . . . | 07 . g.42562
GCTGCTGAATTCAAGTTGGTCGACCAGTCCGGACCTCCTCACGAGCCCAA | GTTCGTTTAC c.2280
A A E F K L V D Q S G P P H E P K | F V Y p.760
. . . . . . g.42622
CAAGCAAAAGTTGGGGGTCGCTGGTTCCCAGCCGTCTGCGCACACAGCAAGAAGCAAGGC c.2340
Q A K V G G R W F P A V C A H S K K Q G p.780
. . . . . . g.42682
AAGCAGGAAGCAGCAGATGCGGCTCTCCGTGTCTTGATTGGGGAGAACGAGAAGGCAGAA c.2400
K Q E A A D A A L R V L I G E N E K A E p.800
. . . . . . g.42742
CGCATGGGTTTCACAGAGGTAACCCCAGTGACAGGGGCCAGTCTCAGAAGAACTATGCTC c.2460
R M G F T E V T P V T G A S L R R T M L p.820
. . . | 08 . . . g.43057
CTCCTCTCAAGGTCCCCAGAAGCACAGCCAAAGACA | CTCCCTCTCACTGGCAGCACCTTC c.2520
L L S R S P E A Q P K T | L P L T G S T F p.840
. . . . . . g.43117
CATGACCAGATAGCCATGCTGAGCCACCGGTGCTTCAACACTCTGACTAACAGCTTCCAG c.2580
H D Q I A M L S H R C F N T L T N S F Q p.860
. . . . . . g.43177
CCCTCCTTGCTCGGCCGCAAGATTCTGGCCGCCATCATTATGAAAAAAGACTCTGAGGAC c.2640
P S L L G R K I L A A I I M K K D S E D p.880
. . | 09 . . . g.43531
ATGGGTGTCGTCGTCAGCTTGGGAACAG | GGAATCGCTGTGTGAAAGGAGATTCTCTCAGC c.2700
M G V V V S L G T G | N R C V K G D S L S p.900
. . . . . . g.43591
CTAAAAGGAGAAACTGTCAATGACTGCCATGCAGAAATAATCTCCCGGAGAGGCTTCATC c.2760
L K G E T V N D C H A E I I S R R G F I p.920
| 10 . . . . . . g.44346
AG | GTTTCTCTACAGTGAGTTAATGAAATACAACTCCCAGACTGCGAAGGATAGTATATTT c.2820
R | F L Y S E L M K Y N S Q T A K D S I F p.940
. . . . . . g.44406
GAACCTGCTAAGGGAGGAGAAAAGCTCCAAATAAAAAAGACTGTGTCATTCCATCTGTAT c.2880
E P A K G G E K L Q I K K T V S F H L Y p.960
| 11 . . . . . . g.44758
ATCAG | CACTGCTCCGTGTGGAGATGGCGCCCTCTTTGACAAGTCCTGCAGCGACCGTGCT c.2940
I S | T A P C G D G A L F D K S C S D R A p.980
. . . . . . g.44818
ATGGAAAGCACAGAATCCCGCCACTACCCTGTCTTCGAGAATCCCAAACAAGGAAAGCTC c.3000
M E S T E S R H Y P V F E N P K Q G K L p.1000
. | 12 . . . . g.46639
CGCACCAAGGTGGAGAACG | GAGAAGGCACAATCCCTGTGGAATCCAGTGACATTGTGCCT c.3060
R T K V E N G | E G T I P V E S S D I V P p.1020
. . . . . . g.46699
ACGTGGGATGGCATTCGGCTCGGGGAGAGACTCCGTACCATGTCCTGTAGTGACAAAATC c.3120
T W D G I R L G E R L R T M S C S D K I p.1040
. . . . . . g.46759
CTACGCTGGAACGTGCTGGGCCTGCAAGGGGCACTGTTGACCCACTTCCTGCAGCCCATT c.3180
L R W N V L G L Q G A L L T H F L Q P I p.1060
. . | 13 . . . . g.47134
TATCTCAAATCTGTCACATTGG | GTTACCTTTTCAGCCAAGGGCATCTGACCCGTGCTATT c.3240
Y L K S V T L G | Y L F S Q G H L T R A I p.1080
. . . . . . g.47194
TGCTGTCGTGTGACAAGAGATGGGAGTGCATTTGAGGATGGACTACGACATCCCTTTATT c.3300
C C R V T R D G S A F E D G L R H P F I p.1100
. | 14 . . . . . g.47662
GTCAACCACCCCAAG | GTTGGCAGAGTCAGCATATATGATTCCAAAAGGCAATCCGGGAAG c.3360
V N H P K | V G R V S I Y D S K R Q S G K p.1120
. . . . . . g.47722
ACTAAGGAGACAAGCGTCAACTGGTGTCTGGCTGATGGCTATGACCTGGAGATCCTGGAC c.3420
T K E T S V N W C L A D G Y D L E I L D p.1140
. . | 15 . . . . g.47955
GGTACCAGAGGCACTGTGGATGG | GCCACGGAATGAATTGTCCCGGGTCTCCAAAAAGAAC c.3480
G T R G T V D G | P R N E L S R V S K K N p.1160
. . . . . . g.48015
ATTTTTCTTCTATTTAAGAAGCTCTGCTCCTTCCGTTACCGCAGGGATCTACTGAGACTC c.3540
I F L L F K K L C S F R Y R R D L L R L p.1180
. . . . . . g.48075
TCCTATGGTGAGGCCAAGAAAGCTGCCCGTGACTACGAGACGGCCAAGAACTACTTCAAA c.3600
S Y G E A K K A A R D Y E T A K N Y F K p.1200
. . . . . . g.48135
AAAGGCCTGAAGGATATGGGCTATGGGAACTGGATTAGCAAACCCCAGGAGGAAAAGAAC c.3660
K G L K D M G Y G N W I S K P Q E E K N p.1220
. . g.48156
TTTTATCTCTGCCCAGTATAG c.3681
F Y L C P V X p.1226
. . . . . . g.48216
tatgctccagtgacagatggattagggtgtgtcatactagggtgtgagagaggtaggtcg c.*60
. . . . . . g.48276
tagcattcctcatcacatggtcaggggatttttttttctcctttttttttctttttaagc c.*120
. . . . . . g.48336
cataattggtgatactgaaaactttgggttcccatttatcctgctttctttgggattgct c.*180
. . . . . . g.48396
aggcaaggtctggccaggccccccttttttcccccaagtgaagaggcagaaacctaagaa c.*240
. . . . . . g.48456
gttatcttttctttctacccaaagcatacatagtcactgagcacctgcggtccatttcct c.*300
. . . . . . g.48516
cttaaaagttttgttttgatttgtttccatttcctttccctttgtgtttgctacactgac c.*360
. . . . . . g.48576
ctcttgcggtcttgattaggtttcagtcaactctggatcatgtcagggactgataatttc c.*420
. . . . . . g.48636
atttgtggattacgcagacccctctacttcccctctttcccttctgagattctttccttg c.*480
. . . . . . g.48696
tgatctgaatgtctccttttccccctcagagggcaaagaggtgaacataaaggatttggt c.*540
. . . . . . g.48756
gaaacatttgtaagggtaggagttgaaaactgcagttcccagtgccacggaagtgtgatt c.*600
. . . . . . g.48816
ggagcctgcagataatgcccagccatcctcccatcctgcactttagccagctgcagggcg c.*660
. . . . . . g.48876
ggcaaggcaaggaaagctgcttccctggaagtgtatcactttctccggcagctgggaagt c.*720
. . . . . . g.48936
ctagaaccagccagactgggttaagggagctgctcaagcaatagcagaggtttcacccgg c.*780
. . . . . . g.48996
caggatgacacagaccacttcccagggagcacgggcatgccttggaatattgccaagctt c.*840
. . . . . . g.49056
ccagctgcctcttctcctaaagcattcctaggaatattttccccgccaatgctgggcgta c.*900
. . . . . . g.49116
caccctagccaacgggacaaatcctagagggtataaaatcatctctgctcagataatcat c.*960
. . . . . . g.49176
gacttagcaagaataagggcaaaaaatcctgttggcttaacgtcactgttccacccggtg c.*1020
. . . . . . g.49236
taatatctctcatgacagtgacaccaagggaagttgactaagtcacatgtaaattaggag c.*1080
. . . . . . g.49296
tgttttaaagaatgccatagatgttgattcttaactgctacagataacctgtaattgagc c.*1140
. . . . . . g.49356
agatttaaaattcaggcatacttttccatttatccaagtgctttcatttttccagatggc c.*1200
. . . . . . g.49416
ttcagaagtaggctcgtgggcagggcgcagacctgatctttatagggttgacatagaaag c.*1260
. . . . . . g.49476
cagtagttgtgggtgaaagggcaggttgtcttcaaactctgtgaggtagaatcctttgtc c.*1320
. . . . . . g.49536
tatacctccatgaacattgactcgtgtgttcagagcctttggcctctctgtggagtctgg c.*1380
. . . . . . g.49596
ctctctggctcctgtgcattctttgaatagtcactcgtaaaaactgtcagtgcttgaaac c.*1440
. . . . . . g.49656
tgtttcctttactcatgttgaagggactttgttggcttttagagtgttggtcatgactcc c.*1500
. . . . . . g.49716
aagagcagagcagggaagagcccaagcatagacttggtgccgtggtgatggctgcagtcc c.*1560
. . . . . . g.49776
agttttgtgatgctgcttttacgtgtccctcgataacagtcagctagacacactcaggag c.*1620
. . . . . . g.49836
gactactgaggctctgcgaccttcaggagctgagcctgcctctctcctttagatgacaga c.*1680
. . . . . . g.49896
ccttcatctgggaacgtgctgagccagcaccctcagatgatttccctccaaactgctgac c.*1740
. . . . . . g.49956
taggtcatcctctgtctggtagagacattcacatctttgcttttattctatgctctctgt c.*1800
. . . . . . g.50016
acttttgaccaaaaattgaccaaagtaagaaaatgcaagttctaaaaatagactaaggat c.*1860
. . . . . . g.50076
gcctttgcagaacaccaaagcatcccaaggaactggtagggaagtggcgcctgtctcctg c.*1920
. . . . . . g.50136
gagtggaagaggcctgctccctggctctgggtctgctgggggcacagtaaatcagtcttg c.*1980
. . . . . . g.50196
gcacccacatccagggcagagaggtctgtggttctcagcatcagaaggcagcgcagcccc c.*2040
. . . . . . g.50256
tctcctcttcaggctacagggttgtcacctgctgagtcctcaggttgtttggcctctctg c.*2100
. . . . . . g.50316
gtccatcttgggcattaggttctccagcagagctctggccagctgcctcttctttaactg c.*2160
. . . . . . g.50376
ggaacacaggctctcacaagatcagaacccccactcacccccaagatcttatctagcaag c.*2220
. . . . . . g.50436
cctgtagtattcagtttctgttgtaggaagagagcgaggcatccctgaattccacgcatc c.*2280
. . . . . . g.50496
tgctggaaacgagccgtgtcagatcgcacatccctgcgcccccatgcccctctgagtcac c.*2340
. . . . . . g.50556
acaggacagaggaggcagagcttctgcccactgttatcttcactttctttgtccagtctt c.*2400
. . . . . . g.50616
ttgtttttaataagcagtgaccctccctactcttctttttaatgatttttgtagttgatt c.*2460
. . . . . . g.50676
tgtctgaactgtggctactgtgcattccttgaataatcacttgtaaaaattgtcagtgct c.*2520
. . . . . . g.50736
tgaagctgtttcctttactcacattgaagggacttcgttggttttttggagtcttggttg c.*2580
. . . . . . g.50796
tgactccaagagcagagtgaggaagacccccaagcatagactcgggtactgtgatgatgg c.*2640
. . . . . . g.50856
ctgcagtccagttttatgattctgcttttatgtgtcccttgataacagtgacttaacaat c.*2700
. . . . g.50905
atacattcctcataaataaaaaaaaaacaagaatctgaattcttagaaa c.*2749
(downstream sequence)
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