(used for variant description)
(last modified March 21, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_018417.4 in the ADCY10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016139.1, covering ADCY10 transcript NM_018417.4.
(upstream sequence)
. . . . . g.5058
agtgccacccaatcagaaacatggtcggtgcccgtggaacaatgagctactgatgagg c.-241
. . . . . . g.5118
gtgtggcctggaaaacggcttttagacaaaactgtcattttatgggtcagctatagacag c.-181
. . . . . . g.5178
acatggcgcttcagctgtcttcagaataatgtcacccggcctcctctcctgtcttctgca c.-121
. . . . . . g.5238
gtcttaaaagacctagtccctaactgaggtctggcttttcctcagccctggatgaagtgg c.-61
. | 02 . . . . . g.14075
ag | aagacctatttggagactgcttcctgtcaccataaaatcctgaacatttgtcttgaac c.-1
. . . . . . g.14135
ATGAACACTCCAAAAGAAGAATTCCAGGACTGGCCCATAGTCAGAATAGCAGCTCATTTA c.60
M N T P K E E F Q D W P I V R I A A H L p.20
. . . . . . g.14195
CCAGACCTCATTGTCTATGGACATTTCTCCCCAGAGCGACCCTTTATGGATTATTTTGAC c.120
P D L I V Y G H F S P E R P F M D Y F D p.40
. . | 03 . . . g.15256
GGAGTCCTGATGTTTGTTGATATTTCAG | GTTTTACTGCAATGACTGAGAAGTTCAGCAGT c.180
G V L M F V D I S G | F T A M T E K F S S p.60
. . . . . . g.15316
GCCATGTACATGGACAGAGGGGCTGAGCAGTTGGTGGAGATCCTCAACTACCACATAAGT c.240
A M Y M D R G A E Q L V E I L N Y H I S p.80
. | 04 . . . . | 05 . g.17418
GCAATAGTGGAGA | AAGTGTTGATTTTTGGAGGAGACATCCTGAAATTTGCAG | GTGATGCA c.300
A I V E K | V L I F G G D I L K F A G | D A p.100
. . . . . . g.17478
CTGCTAGCCCTGTGGAGGGTGGAGCGAAAGCAGCTGAAAAACATTATCACAGTGGTAATT c.360
L L A L W R V E R K Q L K N I I T V V I p.120
. . . . . . g.17538
AAATGTAGCCTGGAGATCCATGGATTGTTTGAGACCCAGGAGTGGGAAGAAGGCCTAGAC c.420
K C S L E I H G L F E T Q E W E E G L D p.140
. | 06 . . . . . g.19631
ATCCGAGTCAAGATAG | GACTGGCTGCTGGCCACATCAGCATGTTGGTCTTTGGAGATGAA c.480
I R V K I G | L A A G H I S M L V F G D E p.160
. . . . . . g.19691
ACACACAGCCACTTTCTGGTGATTGGTCAGGCAGTGGACGATGTGCGCCTTGCCCAGAAC c.540
T H S H F L V I G Q A V D D V R L A Q N p.180
. . . . . . g.19751
ATGGCTCAGATGAATGATGTTATTCTGTCACCAAACTGCTGGCAGCTCTGTGACCGGAGC c.600
M A Q M N D V I L S P N C W Q L C D R S p.200
. . . . | 07 . . g.22542
ATGATTGAAATTGAGAGTGTTCCAGATCAGAGAGCAGTTAAG | GTTAACTTCTTAAAACCA c.660
M I E I E S V P D Q R A V K | V N F L K P p.220
. . . . . . g.22602
CCCCCCAATTTTAATTTTGATGAATTTTTCACAAAGTGTACGACCTTCATGCATTATTAT c.720
P P N F N F D E F F T K C T T F M H Y Y p.240
. | 08 . . . . g.25315
CCTTCTGGTGAGCACAAAA | ACCTCCTGAGGCTTGCATGCACGCTGAAGCCTGATCCTGAA c.780
P S G E H K N | L L R L A C T L K P D P E p.260
. . . . | 09 . g.35599
CTGGAGATGTCCCTACAAAAGTATGTGATGGAAAGCATTTTGAAGCAG | ATTGATAACAAA c.840
L E M S L Q K Y V M E S I L K Q | I D N K p.280
. . . . . . g.35659
CAGCTTCAGGGCTATTTATCTGAGCTTCGCCCAGTGACGATTGTGTTTGTGAACCTGATG c.900
Q L Q G Y L S E L R P V T I V F V N L M p.300
. . . . . . g.35719
TTTGAAGACCAAGACAAAGCAGAAGAGATAGGCCCAGCCATCCAGGATGCCTATATGCAC c.960
F E D Q D K A E E I G P A I Q D A Y M H p.320
. . . . . . g.35779
ATCACTTCTGTCCTGAAGATCTTCCAAGGCCAAATCAATAAAGTCTTCATGTTTGACAAG c.1020
I T S V L K I F Q G Q I N K V F M F D K p.340
| 10 . . . . . . g.38666
| GGCTGCTCTTTCCTCTGTGTCTTTGGCTTCCCTGGGGAAAAGGTACCTGACGAGCTCACT c.1080
| G C S F L C V F G F P G E K V P D E L T p.360
. . . . . | 11 g.39025
CATGCTCTGGAATGTGCTATGGATATATTTGACTTCTGCTCTCAAGTCCACAAAATCCA | A c.1140
H A L E C A M D I F D F C S Q V H K I Q | p.380
. . . . . . g.39085
ACTGTATCCATCGGTGTTGCCAGTGGGATTGTCTTCTGTGGGATCGTTGGACACACTGTG c.1200
T V S I G V A S G I V F C G I V G H T V p.400
. | 12 . . . . . g.40624
AGACACGAGTACACAG | TCATTGGTCAAAAAGTCAACTTAGCTGCCAGGATGATGATGTAC c.1260
R H E Y T V | I G Q K V N L A A R M M M Y p.420
. . . . . . g.40684
TACCCAGGAATTGTGACCTGCGACTCTGTCACCTACAATGGGAGCAACCTACCAGCGTAC c.1320
Y P G I V T C D S V T Y N G S N L P A Y p.440
. . . . . . g.40744
TTTTTTAAAGAGCTTCCAAAGAAAGTTATGAAAGGTGTTGCAGATTCTGGACCATTGTAT c.1380
F F K E L P K K V M K G V A D S G P L Y p.460
. . | 13 . . . . g.44063
CAGTATTGGGGCCGTACTGAGAAAGT | CATGTTTGGTATGGCGTGCCTCATCTGCAACAGA c.1440
Q Y W G R T E K V | M F G M A C L I C N R p.480
. . | 14 . . . . g.48843
AAGGAGGATTACCCTTTGCTGG | GACGTAATAAAGAGATCAACTACTTCATGTATACTATG c.1500
K E D Y P L L G | R N K E I N Y F M Y T M p.500
. . . . . . g.48903
AAGAAATTTTTGATATCTAACAGCAGCCAAGTCTTAATGTATGAGGGATTACCAGGATAT c.1560
K K F L I S N S S Q V L M Y E G L P G Y p.520
. . . . . | 15 . g.58156
GGAAAAAGCCAGATACTTATGAAAATTGAGTACCTGGCCCAAGGTAAGAATCACAG | GATT c.1620
G K S Q I L M K I E Y L A Q G K N H R | I p.540
. . . . . . g.58216
ATTGCCATTTCATTGAATAAGATCAGCTTCCATCAAACTTTCTATACCATCCAGATGTTC c.1680
I A I S L N K I S F H Q T F Y T I Q M F p.560
. . . . . . g.58276
ATGGCCAATGTCCTAGGCCTAGACACTTGTAAACATTATAAAGAACGACAGACCAACCTT c.1740
M A N V L G L D T C K H Y K E R Q T N L p.580
. . . . . . g.58336
CGAAATAAAGTCATGACACTGTTGGATGAAAAGTTCTACTGTCTTCTTAATGACATTTTC c.1800
R N K V M T L L D E K F Y C L L N D I F p.600
| 16 . . . . . g.59373
CATGTTCAG | TTCCCTATTTCTCGGGAGATTTCCAGGATGAGCACCTTGAAAAAGCAAAAA c.1860
H V Q | F P I S R E I S R M S T L K K Q K p.620
. . . | 17 . . . g.62800
CAATTGGAAATATTGTTTATGAAGATCTTGAAGCTG | ATAGTGAAAGAGGAAAGGATTATT c.1920
Q L E I L F M K I L K L | I V K E E R I I p.640
. . . . . . g.62860
TTTATCATTGATGAGGCCCAGTTTGTGGATTCGACCTCCTGGAGATTTATGGAGAAGCTT c.1980
F I I D E A Q F V D S T S W R F M E K L p.660
. . . . . . g.62920
ATCCGGACTCTTCCTATCTTCATCATTATGTCCCTGTGTCCCTTCGTTAACATTCCCTGT c.2040
I R T L P I F I I M S L C P F V N I P C p.680
. . . . . . g.62980
GCAGCTGCCAGGGCCGTAATAAAGAACAGGAACACCACCTACATTGTCATTGGTGCAGTA c.2100
A A A R A V I K N R N T T Y I V I G A V p.700
. . . . . . g.63040
CAGCCTAACGACATCTCCAACAAGATCTGTCTTGACCTCAATGTGAGCTGCATCTCCAAA c.2160
Q P N D I S N K I C L D L N V S C I S K p.720
. | 18 . . . . . g.64775
GAACTGGACTC | GTACCTGGGGGAGGGAAGCTGTGGGATTCCATTTTACTGTGAAGAATTG c.2220
E L D S | Y L G E G S C G I P F Y C E E L p.740
. . . . . . g.64835
CTTAAAAACCTGGAACATCATGAGGTACTCGTTTTCCAACAAACGGAGTCTGAGGAAAAG c.2280
L K N L E H H E V L V F Q Q T E S E E K p.760
. . | 19 . . . g.70758
ACAAATAGGACCTGGAATAACCTGTTCA | AGTATTCCATTAAGCTAACAGAGAAGTTAAAC c.2340
T N R T W N N L F K | Y S I K L T E K L N p.780
. . . . . . g.70818
ATGGTTACTCTCCATAGTGATAAGGAAAGTGAAGAAGTCTGTCACCTCACAAGTGGTGTC c.2400
M V T L H S D K E S E E V C H L T S G V p.800
. . . | 20. . . g.72975
AGACTGAAAAACCTGTCACCTCCAACGTCATTAAAAG | AAATCTCTCTGATCCAGCTGGAT c.2460
R L K N L S P P T S L K E | I S L I Q L D p.820
. . . . . . g.73035
AGCATGAGACTTTCCCACCAAATGCTGGTGAGATGTGCTGCCATCATTGGCCTGACCTTC c.2520
S M R L S H Q M L V R C A A I I G L T F p.840
. . . . . . g.73095
ACCACTGAGTTGTTGTTTGAGATTCTCCCCTGTTGGAATATGAAGATGATGATCAAGACC c.2580
T T E L L F E I L P C W N M K M M I K T p.860
. . . . . . g.73155
CTGGCAACCCTAGTGGAATCTAACATTTTTTATTGTTTCCGGAATGGCAAGGAGCTTCAA c.2640
L A T L V E S N I F Y C F R N G K E L Q p.880
. . . . . . g.73215
AAGGCCCTGAAACAGAATGATCCCTCATTTGAGGTGCACTATCGTTCCTTGTCTCTGAAG c.2700
K A L K Q N D P S F E V H Y R S L S L K p.900
. | 21 . . . . . g.73406
CCCAGTGAAGGGATGG | ATCACGGTGAAGAGGAACAGCTTCGTGAACTGGAGAATGAGGTG c.2760
P S E G M D | H G E E E Q L R E L E N E V p.920
. . . . . . g.73466
ATCGAGTGCCACAGGATTCGATTCTGTAACCCTATGATGCAGAAAACAGCCTACGAGCTG c.2820
I E C H R I R F C N P M M Q K T A Y E L p.940
. . . . . . g.73526
TGGCTCAAGGACCAGAGAAAAGCCATGCACTTGAAATGTGCCCGCTTTTTAGAAGAAGAT c.2880
W L K D Q R K A M H L K C A R F L E E D p.960
. . . . . . g.73586
GCCCACAGATGTGACCACTGCCGAGGCAGGGACTTCATTCCCTATCATCACTTCACAGTG c.2940
A H R C D H C R G R D F I P Y H H F T V p.980
. . . . . . g.73646
AATATTCGGCTCAACGCTTTAGACATGGATGCCATTAAAAAGATGGCTATGTCTCATGGA c.3000
N I R L N A L D M D A I K K M A M S H G p.1000
| 22. . . . . . g.81950
TTTAAAA | CTGAAGAAAAGCTTATCTTGTCCAACTCAGAGATTCCTGAGACATCTGCATTT c.3060
F K T | E E K L I L S N S E I P E T S A F p.1020
. | 23. . . . . g.82718
TTTCCTGAAAATCGCAG | TCCTGAAGAAATAAGAGAAAAGATCTTGAATTTCTTTGACCAC c.3120
F P E N R S | P E E I R E K I L N F F D H p.1040
. . . . . . g.82778
GTTTTAACAAAAATGAAGACATCTGACGAAGACATTATCCCTCTGGAATCTTGCCAGTGT c.3180
V L T K M K T S D E D I I P L E S C Q C p.1060
. . . . . . g.82838
GAAGAAATCCTAGAGATTGTCATCTTGCCTCTGGCCCACCATTTTCTGGCTTTGGGAGAA c.3240
E E I L E I V I L P L A H H F L A L G E p.1080
. . . . . . g.82898
AATGACAAAGCCTTATATTACTTCTTAGAAATTGCATCTGCTTATCTCATCTTTTGTGAT c.3300
N D K A L Y Y F L E I A S A Y L I F C D p.1100
| 24 . . . . . g.85189
AACTACATG | GCATACATGTATTTGAATGAAGGACAGAAGTTGCTAAAAACTCTCAAGAAG c.3360
N Y M | A Y M Y L N E G Q K L L K T L K K p.1120
. . . . . | 25. g.86056
GACAAATCTTGGAGCCAGACATTTGAGTCTGCCACCTTTTACAGCCTCAAAGGTGAG | GTC c.3420
D K S W S Q T F E S A T F Y S L K G E | V p.1140
. . . . . . g.86116
TGTTTCAATATGGGCCAGATAGTGCTTGCCAAGAAAATGCTGAGGAAGGCACTGAAGCTC c.3480
C F N M G Q I V L A K K M L R K A L K L p.1160
. . . . . . g.86176
CTCAACCGAATCTTTCCTTACAACTTAATCTCCTTGTTTCTCCATATCCATGTCGAGAAA c.3540
L N R I F P Y N L I S L F L H I H V E K p.1180
. . . . . | 26 . g.89799
AACAGACACTTTCATTATGTGAATCGGCAGGCCCAAGAGAGCCCACCTCCAGG | GAAGAAG c.3600
N R H F H Y V N R Q A Q E S P P P G | K K p.1200
. . . . . . g.89859
AGGCTGGCACAACTTTACCGGCAAACTGTCTGCCTTTCCTTGCTGTGGCGCATCTATAGC c.3660
R L A Q L Y R Q T V C L S L L W R I Y S p.1220
. . . . . . g.89919
TACAGTTATCTTTTTCACTGCAAGTATTATGCCCACCTGGCAGTTATGATGCAAATGAAT c.3720
Y S Y L F H C K Y Y A H L A V M M Q M N p.1240
. . . | 27 . . . g.94390
ACTGCACTGGAAACTCAAAATTGTTTCCAG | ATCATTAAGGCTTACCTAGACTATTCGCTA c.3780
T A L E T Q N C F Q | I I K A Y L D Y S L p.1260
. . . . . . g.94450
TACCACCACCTGGCTGGCTACAAAGGTGTGTGGTTCAAATATGAAGTCATGGCCATGGAG c.3840
Y H H L A G Y K G V W F K Y E V M A M E p.1280
. . . . . . g.94510
CACATCTTCAACCTCCCCCTGAAAGGCGAGGGCATTGAAATCGTGGCATACGTGGCTGAG c.3900
H I F N L P L K G E G I E I V A Y V A E p.1300
. . . . . | 28 . g.94648
ACACTGGTCTTCAACAAGCTCATAATGGGACACCTGGATTTGGCCATTGAGTTAG | GCTCC c.3960
T L V F N K L I M G H L D L A I E L G | S p.1320
. . . . . . g.94708
CGAGCCCTTCAGATGTGGGCACTGCTCCAGAATCCCAACCGACATTATCAGTCCCTCTGC c.4020
R A L Q M W A L L Q N P N R H Y Q S L C p.1340
. . . | 29 . . . g.96120
AGACTTAGCAGATGTCTCCTTCTGAACAGCAG | ATACCCGCAATTGATCCAGGTGCTGGGG c.4080
R L S R C L L L N S R | Y P Q L I Q V L G p.1360
. . . . . . g.96180
CGGCTGTGGGAGCTTTCTGTAACACAGGAACACATCTTCAGCAAGGCATTTTTCTATTTT c.4140
R L W E L S V T Q E H I F S K A F F Y F p.1380
. . | 30 . . . g.97106
GTCTGCTTGGACATCCTGCTTTATTCTG | GTTTTGTTTATAGAACATTTGAAGAATGTTTG c.4200
V C L D I L L Y S G | F V Y R T F E E C L p.1400
. . . . . . g.97166
GAATTCATACACCAATACGAAAACAACAGAATCCTCAAGTTCCACAGTGGACTCCTCCTG c.4260
E F I H Q Y E N N R I L K F H S G L L L p.1420
. . | 31 . . . . g.100982
GGACTTTATTCCTCTGTAGCTATCTG | GTATGCCAGACTTCAGGAATGGGACAACTTTTAC c.4320
G L Y S S V A I W | Y A R L Q E W D N F Y p.1440
. . . . . . g.101042
AAATTTTCCAATAGAGCTAAAAATCTTTTGCCAAGAAGAACCATGACACTTACTTACTAT c.4380
K F S N R A K N L L P R R T M T L T Y Y p.1460
. . . . . . g.101102
GACGGAATATCTAGGTACATGGAGGGGCAAGTTCTTCACCTTCAAAAACAAATCAAAGAA c.4440
D G I S R Y M E G Q V L H L Q K Q I K E p.1480
. . . . | 32 . . g.108321
CAGTCAGAGAATGCCCAAGCCAGTGGGGAGGAGCTACTCAAG | AACTTGGAGAATCTGGTG c.4500
Q S E N A Q A S G E E L L K | N L E N L V p.1500
. . . . . . g.108381
GCTCAAAATACCACTGGCCCTGTCTTTTGCCCAAGGCTCTACCACCTGATGGCTTACGTC c.4560
A Q N T T G P V F C P R L Y H L M A Y V p.1520
. . . . . . g.108441
TGTATATTAATGGGAGATGGGCAGAAATGTGGCCTCTTCCTGAACACAGCCTTGCGGCTC c.4620
C I L M G D G Q K C G L F L N T A L R L p.1540
. . . . . | 33 . g.109386
TCTGAAACACAGGGGAATATACTGGAGAAATGCTGGCTGAACATGAACAAA | GAATCATGG c.4680
S E T Q G N I L E K C W L N M N K | E S W p.1560
. . . . . . g.109446
TACTCAACCTCTGAGTTAAAAGAAGACCAATGGCTTCAGACGATCTTGAGTCTCCCATCA c.4740
Y S T S E L K E D Q W L Q T I L S L P S p.1580
. . . . . . g.109506
TGGGAAAAAATTGTAGCAGGCAGGGTAAACATTCAGGATCTTCAAAAAAACAAATTCCTG c.4800
W E K I V A G R V N I Q D L Q K N K F L p.1600
. . . g.109539
ATGAGAGCTAATACCGTGGACAATCATTTCTAA c.4833
M R A N T V D N H F X p.1610
. . . . . . g.109599
catgtcaaagaaaaaagattttaataagcactatgtccttgtgattatctattattgacc c.*60
. . . . . . g.109659
tttctccgtggctggcccactccaggttcctacataatctcttctgttccagacacagaa c.*120
. . . . . . g.109719
acagacatgttgatttcttctctttctggagggcctacaagggtcaggagtgtcatggtt c.*180
. . . . . . g.109779
tacttcttcctaatgttacaaaaaattgcttttaccattcatgttgttttagcttgacct c.*240
. . . . . g.109829
gtttatttcagcccatgcaaaactgtatcatattacaaattattaatctc c.*290
(downstream sequence)
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