(used for variant description)
(last modified April 4, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_015833.3 in the ADARB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_052015.1, covering ADARB1 transcript NM_015833.3.
(upstream sequence)
. g.5015
ctgaggcgctgaggc c.-421
. . . . . . g.5075
ggccgtggcggcggcggcggcggcggcggcagcggcggccaagcggccaggttggcggcc c.-361
. . . . . . g.5135
ggggctccgggccgcgcgaggccacggccacgccgcgccgctgcgcacaaccaacgaggc c.-301
. . . . . . g.5195
agagcgccgcccggcgcgagactgcggccgaagcgtggggcgcgcgtgcggaggaccagg c.-241
. . . | 02 . . . g.58863
cgcggcgcggctgcggctgag | agtggagcctttcaggctggcatggagagcttaaggggc c.-181
. . . . . . g.58923
aactgaaggagacacactggccaagcgcggagttctgcttacttcagtcctgctgagata c.-121
. . . . . . g.58983
ctctctcagtccgctcgcaccgaaggaagctgccttgggatcagagcagacataaagcta c.-61
. . | 03 . . . . g.102079
gaaaaatttcaag | acagaaacagtctccgccagtcaagaaaccctcaaaagtattttgcc c.-1
. . | 04 . . . g.106184
ATGGATATAGAAGATGAAGAAAACATGA | GTTCCAGCAGCACTGATGTGAAGGAAAACCGC c.60
M D I E D E E N M S | S S S T D V K E N R p.20
. . . . . . g.106244
AATCTGGACAACGTGTCCCCCAAGGATGGCAGCACACCTGGGCCTGGCGAGGGCTCTCAG c.120
N L D N V S P K D G S T P G P G E G S Q p.40
. . . . . . g.106304
CTCTCCAATGGGGGTGGTGGTGGCCCCGGCAGAAAGCGGCCCCTGGAGGAGGGCAGCAAT c.180
L S N G G G G G P G R K R P L E E G S N p.60
. . . . . . g.106364
GGCCACTCCAAGTACCGCCTGAAGAAAAGGAGGAAAACACCAGGGCCCGTCCTCCCCAAG c.240
G H S K Y R L K K R R K T P G P V L P K p.80
. . . . . . g.106424
AACGCCCTGATGCAGCTGAATGAGATCAAGCCTGGTTTGCAGTACACACTCCTGTCCCAG c.300
N A L M Q L N E I K P G L Q Y T L L S Q p.100
. . . . . . g.106484
ACTGGGCCCGTGCACGCGCCTTTGTTTGTCATGTCTGTGGAGGTGAATGGCCAGGTTTTT c.360
T G P V H A P L F V M S V E V N G Q V F p.120
. . . . . . g.106544
GAGGGCTCTGGTCCCACAAAGAAAAAGGCAAAACTCCATGCTGCTGAGAAGGCCTTGAGG c.420
E G S G P T K K K A K L H A A E K A L R p.140
. . . . . . g.106604
TCTTTCGTTCAGTTTCCTAATGCCTCTGAGGCCCACCTGGCCATGGGGAGGACCCTGTCT c.480
S F V Q F P N A S E A H L A M G R T L S p.160
. . . . . . g.106664
GTCAACACGGACTTCACATCTGACCAGGCCGACTTCCCTGACACGCTCTTCAATGGTTTT c.540
V N T D F T S D Q A D F P D T L F N G F p.180
. . . . . . g.106724
GAAACTCCTGACAAGGCGGAGCCTCCCTTTTACGTGGGCTCCAATGGGGATGACTCCTTC c.600
E T P D K A E P P F Y V G S N G D D S F p.200
. . . . . . g.106784
AGTTCCAGCGGGGACCTCAGCTTGTCTGCTTCCCCGGTGCCTGCCAGCCTAGCCCAGCCT c.660
S S S G D L S L S A S P V P A S L A Q P p.220
. . . . . . g.106844
CCTCTCCCTGTCTTACCACCATTCCCACCCCCGAGTGGGAAGAATCCCGTGATGATCTTG c.720
P L P V L P P F P P P S G K N P V M I L p.240
. . . . . . g.106904
AACGAACTGCGCCCAGGACTCAAGTATGACTTCCTCTCCGAGAGCGGGGAGAGCCATGCC c.780
N E L R P G L K Y D F L S E S G E S H A p.260
. . . . . . g.106964
AAGAGCTTCGTCATGTCTGTGGTCGTGGATGGTCAGTTCTTTGAAGGCTCGGGGAGAAAC c.840
K S F V M S V V V D G Q F F E G S G R N p.280
. . . . . . g.107024
AAGAAGCTTGCCAAGGCCCGGGCTGCGCAGTCTGCCCTGGCCGCCATTTTTAACTTGCAC c.900
K K L A K A R A A Q S A L A A I F N L H p.300
. . . . . . g.107084
TTGGATCAGACGCCATCTCGCCAGCCTATTCCCAGTGAGGGTCTTCAGCTGCATTTACCG c.960
L D Q T P S R Q P I P S E G L Q L H L P p.320
| 05 . . . . . . g.110809
CAG | GTTTTAGCTGACGCTGTCTCACGCCTGGTCCTGGGTAAGTTTGGTGACCTGACCGAC c.1020
Q | V L A D A V S R L V L G K F G D L T D p.340
. . . . . | 06 g.113009
AACTTCTCCTCCCCTCACGCTCGCAGAAAAGTGCTGGCTGGAGTCGTCATGACAACAG | GC c.1080
N F S S P H A R R K V L A G V V M T T G | p.360
. . . . . . g.113069
ACAGATGTTAAAGATGCCAAGGTGATAAGTGTTTCTACAGGAACAAAATGTATTAATGGT c.1140
T D V K D A K V I S V S T G T K C I N G p.380
. . . . . . g.113129
GAATACATGAGTGATCGTGGCCTTGCATTAAATGACTGCCATGCAGAAATAATATCTCGG c.1200
E Y M S D R G L A L N D C H A E I I S R p.400
. . . . | 07. . g.113797
AGATCCTTGCTCAGATTTCTTTATACACAACTTGAGCTTTACTTAAA | TAACAAAGATGAT c.1260
R S L L R F L Y T Q L E L Y L N | N K D D p.420
. . . . . . g.113857
CAAAAAAGATCCATCTTTCAGAAATCAGAGCGAGGGGGGTTTAGGCTGAAGGAGAATGTC c.1320
Q K R S I F Q K S E R G G F R L K E N V p.440
. . . . . . g.113917
CAGTTTCATCTGTACATCAGCACCTCTCCCTGTGGAGATGCCAGAATCTTCTCACCACAT c.1380
Q F H L Y I S T S P C G D A R I F S P H p.460
. | 08 . . . . . g.114940
GAGCCAATCCTGGAAG | GGTCTCGCTCTTACACCCAGGCTGGAGTGCAGTGGTGCAATCAT c.1440
E P I L E G | S R S Y T Q A G V Q W C N H p.480
. . . . . . g.115000
GGCTCACTGCAGCCTCGACCTCCTGGGCTCTTAAGCGATCCTTCCACCTCAACCTTCCAA c.1500
G S L Q P R P P G L L S D P S T S T F Q p.500
. | 09 . . . . . g.115389
GGAGCTGGGACTACAG | AACCAGCAGATAGACACCCAAATCGTAAAGCAAGAGGACAGCTA c.1560
G A G T T E | P A D R H P N R K A R G Q L p.520
. . . . . . g.115449
CGGACCAAAATAGAGTCTGGTGAGGGGACGATTCCAGTGCGCTCCAATGCGAGCATCCAA c.1620
R T K I E S G E G T I P V R S N A S I Q p.540
. . . . . . g.115509
ACGTGGGACGGGGTGCTGCAAGGGGAGCGGCTGCTCACCATGTCCTGCAGTGACAAGATT c.1680
T W D G V L Q G E R L L T M S C S D K I p.560
| 10 . . . . . . g.135032
GCACG | CTGGAACGTGGTGGGCATCCAGGGATCCCTGCTCAGCATTTTCGTGGAGCCCATT c.1740
A R | W N V V G I Q G S L L S I F V E P I p.580
. . . . . . g.135092
TACTTCTCGAGCATCATCCTGGGCAGCCTTTACCACGGGGACCACCTTTCCAGGGCCATG c.1800
Y F S S I I L G S L Y H G D H L S R A M p.600
. . . . . . g.135152
TACCAGCGGATCTCCAACATAGAGGACCTGCCACCTCTCTACACCCTCAACAAGCCTTTG c.1860
Y Q R I S N I E D L P P L Y T L N K P L p.620
| 11. . . . . . g.151311
CTCAGTG | GCATCAGCAATGCAGAAGCACGGCAGCCAGGGAAGGCCCCCAACTTCAGTGTC c.1920
L S G | I S N A E A R Q P G K A P N F S V p.640
. . . . . . g.151371
AACTGGACGGTAGGCGACTCCGCTATTGAGGTCATCAACGCCACGACTGGGAAGGATGAG c.1980
N W T V G D S A I E V I N A T T G K D E p.660
. . . . . . g.151431
CTGGGCCGCGCGTCCCGCCTGTGTAAGCACGCGTTGTACTGTCGCTGGATGCGTGTGCAC c.2040
L G R A S R L C K H A L Y C R W M R V H p.680
| 12 . . . . . . g.152494
GGCAAG | GTTCCCTCCCACTTACTACGCTCCAAGATTACCAAGCCCAACGTGTACCATGAG c.2100
G K | V P S H L L R S K I T K P N V Y H E p.700
. . . . . . g.152554
TCCAAGCTGGCGGCAAAGGAGTACCAGGCCGCCAAGGCGCGTCTGTTCACAGCCTTCATC c.2160
S K L A A K E Y Q A A K A R L F T A F I p.720
. . . . . . g.152614
AAGGCGGGGCTGGGGGCCTGGGTGGAGAAGCCCACCGAGCAGGACCAGTTCTCACTCACG c.2220
K A G L G A W V E K P T E Q D Q F S L T p.740
g.152620
CCCTGA c.2226
P X p.741
. . . . . . g.152680
cccgggcagacatgatggggggtgcagggggctgtgggcatccagcgtcatcctccagaa c.*60
. . . . . . g.152740
cctcacatctgaactgggggcaggtgcataccttggggagggagtagggggacacggggg c.*120
. . . . . . g.152800
accaccaggtgtccacggttgtccccagcatctcacatcagacctggggcaggtgcgcag c.*180
. . . . . . g.152860
tgtggggaggggatggggtgcgtcagggcccagcatcgccgcctggcatctctctgccgc c.*240
. . . . . . g.152920
agcatttccccttctgaaccgtccagtgactgctttcaatctcggtttacgtttagaaat c.*300
. . . . . . g.152980
tgagttctactgagtagggcttccttaagtttaggaaaatagaaattactttgtgtgaaa c.*360
. . . . . . g.153040
ttcttgaataaataatttattcagagctaggaatgtggtttataaaataggaagtaattg c.*420
. . . . . . g.153100
tgtcaggtcacttttatgccacattattttaattgcaaaaaagcatctatatatggagga c.*480
. . . . . . g.153160
gggtgggaaaatagaggtaggaaatagtagcctaaaggaaatcgccacacgtctgtctaa c.*540
. . . . . . g.153220
acttaggtctcttttctccgtaggtacctccctgggtagttccacacactaggttgtaac c.*600
. . . . . . g.153280
agtctctccctgaggagcagactcccagcatggtgtagcgtggccctgtcatgcacatgg c.*660
. . . . . . g.153340
ggtcccgcagcagtgactgtgtgtcctgcagaggcgtgacccaggcccctgtagccctca c.*720
. . . . . . g.153400
gcctcctctagaagcttctgtactccttgtaggatcagatcatggaaaacttttctcagt c.*780
. . . . . . g.153460
ttacttctaagtaatcacagataatacatggccagtaatcccaggctggccattcattca c.*840
. . . . . . g.153520
ggttttttaaaggatatttaacttttatggactagaaggaatcacgagggctactgcaca c.*900
. . . . . . g.153580
atacatggcctaagttccctctgttccttcctctgaatcgaatggatgtgggtgaccgcc c.*960
. . . . . . g.153640
cgaaggccttcacaggatggaagtagaatgatttcagtagatactcattcttggaaaatg c.*1020
. . . . . . g.153700
ccatagttttaaattattgtttccagctttatcaaagacatgtttgaaaaataaaaagca c.*1080
. . . . . . g.153760
tccaagtgagagctggtgagaccacgtgctgctggcgtagtgtaggccagacattgacag c.*1140
. . . . . . g.153820
tcctgacgggagctcagggctgcccagcgcccagcgtgcacgggacggccccacgacaga c.*1200
. . . . . . g.153880
gggagtcagcccgggaggtcaggagcgcggcgggcgagggccctgtgtggaccacctcca c.*1260
. . . . . . g.153940
ccaagctcagagatttgcaccaggtgccttgttgcctccgctcaggatgaaagaggagct c.*1320
. . . . . . g.154000
gagagaagtgctctgcctgccagtgcagtgcccagctccaaggctctagagggtgttcag c.*1380
. . . . . . g.154060
gtgggtctcctggggccatggggagagattggtgcagaccttaccccacagcatacacct c.*1440
. . . . . . g.154120
gccacagcgaaatccagggtgttggcacctgtgtgtccgtgatgagcctaggaaaccaga c.*1500
. . . . . . g.154180
gcaggggcagaggggcgtcatcctcccaccggacgctgggagctcagaccccaaaactga c.*1560
. . . . . . g.154240
aacaccgtggcttcggcggggggtgtgcctcctgatgtcaggagccccatccacgtgtgt c.*1620
. . . . . . g.154300
ccacacagatctcgtcgcagcacggcaggaaggggtgctgcttagggctcattgttgggg c.*1680
. . . . . . g.154360
acatgaccgggttcagcggctagaacatctgccccacagcagcctcctcctccaccgaag c.*1740
. . . . . . g.154420
agggtagttgtctccctgaagcagtcacagcaggcgtctctgccgctccgtcaccacagt c.*1800
. . . . . . g.154480
ggggttttgttcaggcagatcgcgctggggttctgcacctgcagaaggagaggggtctgt c.*1860
. . . . . . g.154540
tgtcgctggctttcccccaagcaggctcttgcacactctagaaaaaacaccttgtaagtc c.*1920
. . . . . . g.154600
tgtgcatttttattgtcttgataaattgtatttttttctaatggggattgggagatggac c.*1980
. . . . . . g.154660
ttcgtttttaaaaatatgtggattttggttaccaagtttagtgttaatatattccatata c.*2040
. . . . . . g.154720
catacaaaactacccggtatgtctggcttttcccttctgtcaggtaatagctaaagtcag c.*2100
. . . . . . g.154780
catgattgctccctgtaccaccccaaataagtgagtgcctcaccttgtggggcctgagca c.*2160
. . . . . . g.154840
gctaccttgagaccatgtgaggtggcacctttccggggtggactcgtgcggccttgagga c.*2220
. . . . . . g.154900
caggcacagggcaccctatcccaagccgtccaggcaggaggaaggcagccaaggcaactg c.*2280
. . . . . . g.154960
ggttctgggagccctgggtggggcagctgtggggaggaactgggttcggggagccctggg c.*2340
. . . . . . g.155020
cggggcggctgttggggggaactgggttcggggtgccctgggcagggggctactgggggg c.*2400
. . . . . . g.155080
cggctgtgaggaggagttgggttcagggagccctgggcggggtggctgtcagggggaact c.*2460
. . . . . . g.155140
gggttccgggagccctgggccggggcagggggcggctgtaggaaggaactggtttcgggg c.*2520
. . . . . . g.155200
agccctgggcggggcggctgtggggaggaaggtgacgtgcaggggaccagaggctctgca c.*2580
. . . . . . g.155260
ctgctcctaggacagctcatctgtaatcagaaaaaaaataaacaaaatacagaacgctga c.*2640
. . . . . . g.155320
ctcctccgtgagacagatcggggaccttagcactttaatccctcccttctgagcgctcgg c.*2700
. . . . . . g.155380
tgtgcacttttagactatagctgtttcattgacgtgtcactctccatccagtgtccttga c.*2760
. . . . . . g.155440
tgtggcttttagagacttagcagaaaattcgacacaagcaggaacttgattttttaagaa c.*2820
. . . . . . g.155500
aaaatattacattttgaggacattttgacaagtaggggaagagagggcttctgttgtttt c.*2880
. . . . . . g.155560
gttttgttttgttttgttaactaaacctgaagtattaattccacaaagacactgtccctc c.*2940
. . . . . . g.155620
aggaccactcaggtacagctctgccagggacagagtcctgctagtgggaggtctcaggtg c.*3000
. . . . . . g.155680
gggcggtgtgttctgtgccatgaggcagcgacaggtccagatggatgtcgtcaccacctt c.*3060
. . . . . . g.155740
cctcagctctcatcacctggtcgtacgccaggcccacctcttcccagcaagggacgccaa c.*3120
. . . . . . g.155800
agaactgcagtttttattctgagtcttaatttaacttttcatcatcttttcctattttgg c.*3180
. . . . . . g.155860
agaattttttgtaattaaaagcaattattttaaaatgtgcaagccagtatctcacaaggc c.*3240
. . . . . . g.155920
atggatttctgtggaatttatttttattcaaataaccatatttatctccaggctgtggaa c.*3300
. . . . . . g.155980
tcgccactttctttgtgaagacagtgtctctccttgtaatctcacacaggtacactgagg c.*3360
. . . . . . g.156040
aggggacggctccgtcttcacattgtgcacagatctgaggatgggattagcgaagctgtg c.*3420
. . . . . . g.156100
gagactgcacatccggacctgcccatgtctcaaaacaaacacatgtacagtggctctttt c.*3480
. . . . . . g.156160
tccttctcaaacactttaccccagaagcaggtggtctgccccaggcataaagaaggaaaa c.*3540
. . . . . . g.156220
ttggccatctttcccacctctaaattctgtaaaattatagacttgctcaaaagattcctt c.*3600
. . . . . . g.156280
tttatcatccccacgctgtgtaagtggaaagggcattgtgttccgtgtgtgtccagttta c.*3660
. . . . . . g.156340
cagcgtctctgccccctagcgtgttttgtgacaatctccctgggtgaggagtgggtgcac c.*3720
. . . . . . g.156400
ccagccccgaggccagtggttgctcggggccttccgtgtgagttctagtgttcacttgat c.*3780
. . . . . . g.156460
gccggggaatagaattagagaaaactctgacctgccgggttccagggactggtggaggtg c.*3840
. . . . . . g.156520
gatggcaggtccgactcgaccatgacttagttgtaagggtgtgtcggctttttcagtctc c.*3900
. . . . . . g.156580
atgtgaaaatcctcctgtctctggcagcactgtctgcactttcttgtttactgtttgaag c.*3960
. . . . . . g.156640
ggacgagtaccaagccacaagaacacttcttttggccacagcataagctgatggtatgta c.*4020
. . . . . . g.156700
aggaaccgatgggccattaaacatgaactgaacggttaaaagcacagtctatggaacgct c.*4080
. . . . . . g.156760
aatggagtcagcccctaaagctgtttgctttttcaggctttggattacatgcttttaatt c.*4140
. . . . . . g.156820
tgattttagaatctggacactttctatgaatgtaattcggctgagaaacatgttgctgag c.*4200
. . . . . . g.156880
atgcaatcctcagtgttctctgtatgtaaatctgtgtatacaccacacgttacaactgca c.*4260
. . . . . . g.156940
tgagcttcctctcgcacaagaccagctggaactgagcatgagacgctgtcaaatacagac c.*4320
. . . . g.156986
aaaggatttgagatgttctcaataaaaagaaaatgtttcactactc c.*4366
(downstream sequence)
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