(used for variant description)
(last modified March 18, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_004036.3 in the ADCY3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering ADCY3 transcript NM_004036.3.
(upstream sequence)
. g.5019
agttctagctgatcagtgc c.-181
. . . . . . g.5079
tacctgtgctctggaaacccgctctgcgttcctgctggaggtggcctcccctccgcccca c.-121
. . . . . . g.5139
gacaagaagaggccctcagccctcccccggtctcagagagccctgagaggaggcccagtc c.-61
. . . . . . g.5199
cagagctcttcctccgttcccagtccacttctctagggccagtagcagacaccagccagt c.-1
. . . . . . g.5259
ATGCCGAGGAACCAGGGCTTCTCCGAGCCCGAATACTCGGCCGAGTACTCAGCCGAGTAC c.60
M P R N Q G F S E P E Y S A E Y S A E Y p.20
. . . . . . g.5319
TCCGTCAGCCTGCCCTCCGACCCTGACCGCGGGGTGGGCCGGACCCATGAAATCTCGGTC c.120
S V S L P S D P D R G V G R T H E I S V p.40
. . . . . . g.5379
CGGAACTCGGGCTCCTGCCTGTGCCTGCCTCGCTTCATGCGGCTGACTTTCGTGCCGGAG c.180
R N S G S C L C L P R F M R L T F V P E p.60
. . . . . . g.5439
TCCTTGGAGAACCTCTACCAGACCTACTTCAAAAGGCAGCGCCACGAGACCCTGCTGGTG c.240
S L E N L Y Q T Y F K R Q R H E T L L V p.80
. . . . . . g.5499
CTGGTGGTCTTTGCAGCCCTCTTTGACTGCTACGTGGTGGTCATGTGTGCTGTGGTCTTC c.300
L V V F A A L F D C Y V V V M C A V V F p.100
. . . . . . g.5559
TCCAGCGACAAGCTGGCTTCCCTCGCCGTGGCTGGAATTGGACTGGTGTTGGACATCATC c.360
S S D K L A S L A V A G I G L V L D I I p.120
. . . . . . g.5619
CTCTTCGTGCTCTGCAAAAAGGGGCTGCTCCCGGACCGGGTCACCCGCAGAGTGCTGCCC c.420
L F V L C K K G L L P D R V T R R V L P p.140
. . . . . . g.5679
TACGTGCTGTGGCTGCTCATAACCGCCCAGATCTTCTCCTACCTGGGCCTGAACTTCGCG c.480
Y V L W L L I T A Q I F S Y L G L N F A p.160
. . . . . . g.5739
CGTGCCCACGCGGCTAGTGACACGGTGGGCTGGCAGGTCTTCTTTGTCTTCTCCTTCTTC c.540
R A H A A S D T V G W Q V F F V F S F F p.180
. . . . . . g.5799
ATCACGCTGCCCCTCAGCCTCAGCCCCATCGTGATCATCTCCGTGGTCTCCTGTGTGGTG c.600
I T L P L S L S P I V I I S V V S C V V p.200
. . . . . . g.5859
CACACGTTGGTCCTGGGGGTCACCGTGGCCCAGCAGCAGCAGGAGGAGCTCAAGGGGATG c.660
H T L V L G V T V A Q Q Q Q E E L K G M p.220
. | 02 . . . . . g.51512
CAGCTGCTGCGGGAG | ATCCTGGCCAACGTCTTCCTCTACCTGTGCGCCATCGCTGTGGGC c.720
Q L L R E | I L A N V F L Y L C A I A V G p.240
. . . . . . g.51572
ATCATGTCCTACTACATGGCTGACCGCAAGCACCGCAAGGCCTTCCTGGAGGCCCGCCAG c.780
I M S Y Y M A D R K H R K A F L E A R Q p.260
. . . . | 03 . . g.81817
TCGCTGGAGGTGAAGATGAACCTGGAAGAGCAGAGCCAGCAGCAG | GAGAACCTCATGCTT c.840
S L E V K M N L E E Q S Q Q Q | E N L M L p.280
. . . . . . g.81877
TCCATCCTGCCCAAGCACGTGGCTGACGAGATGCTGAAAGACATGAAGAAAGACGAGAGC c.900
S I L P K H V A D E M L K D M K K D E S p.300
. . . . . | 04 . g.82523
CAGAAGGACCAGCAGCAGTTCAACACCATGTACATGTACCGTCACGAGAACGTCAG | CATC c.960
Q K D Q Q Q F N T M Y M Y R H E N V S | I p.320
. . . . . . g.82583
CTCTTTGCCGACATCGTGGGCTTTACCCAGCTGTCTTCTGCCTGCAGTGCCCAGGAGCTT c.1020
L F A D I V G F T Q L S S A C S A Q E L p.340
. . . . | 05 . g.82812
GTGAAGCTGCTCAACGAGCTCTTTGCCCGCTTTGACAAGCTGGCAGCT | AAATACCACCAG c.1080
V K L L N E L F A R F D K L A A | K Y H Q p.360
. . . . . . g.82872
CTGCGGATTAAGATCCTGGGCGACTGCTACTACTGCATCTGCGGCTTGCCCGACTACCGG c.1140
L R I K I L G D C Y Y C I C G L P D Y R p.380
. . . . . | 06 . g.84159
GAGGACCACGCCGTCTGCTCCATCCTCATGGGGCTGGCCATGGTGGAGGCCATCTC | GTAT c.1200
E D H A V C S I L M G L A M V E A I S | Y p.400
. . . . . . g.84219
GTGCGGGAGAAGACCAAGACTGGGGTGGACATGCGTGTGGGGGTGCACACGGGCACCGTG c.1260
V R E K T K T G V D M R V G V H T G T V p.420
. . . . . . g.84279
CTGGGGGGCGTCCTGGGCCAGAAGCGCTGGCAGTACGACGTGTGGTCGACTGATGTCACT c.1320
L G G V L G Q K R W Q Y D V W S T D V T p.440
. . . | 07 . . . g.85589
GTAGCCAACAAGATGGAGGCCGGCGGCATCCCTGG | GCGCGTGCACATCTCCCAGAGCACC c.1380
V A N K M E A G G I P G | R V H I S Q S T p.460
. . . . . . g.85649
ATGGACTGCCTGAAAGGGGAGTTTGATGTGGAGCCAGGCGATGGGGGCAGCCGCTGTGAT c.1440
M D C L K G E F D V E P G D G G S R C D p.480
. . . . . . g.85709
TACCTAGAAGAGAAGGGTATTGAAACCTACCTCATCATTGCCTCCAAGCCAGAGGTGAAG c.1500
Y L E E K G I E T Y L I I A S K P E V K p.500
. . . | 08 . . . g.87168
AAAACAGCCACCCAGAATGGCCTCAATGGCTCG | GCCCTGCCCAATGGAGCACCAGCTTCC c.1560
K T A T Q N G L N G S | A L P N G A P A S p.520
. . . . . . g.87228
TCAAAGTCCAGCTCCCCTGCCCTCATTGAGACCAAGGAGCCCAACGGGAGTGCCCACAGC c.1620
S K S S S P A L I E T K E P N G S A H S p.540
. . . . | 09 . . g.89268
AGTGGGTCCACGTCGGAGAAGCCCGAGGAGCAGGATGCCCAG | GCCGACAACCCCTCATTC c.1680
S G S T S E K P E E Q D A Q | A D N P S F p.560
. . . . . . g.89328
CCCAACCCACGCCGGAGGCTGCGCCTGCAGGACCTGGCTGACCGAGTGGTGGATGCCTCT c.1740
P N P R R R L R L Q D L A D R V V D A S p.580
. . . . . . g.89388
GAAGATGAGCACGAGCTCAACCAGCTGCTCAACGAGGCCCTGCTTGAGCGAGAGTCCGCC c.1800
E D E H E L N Q L L N E A L L E R E S A p.600
| 10 . . . . . . g.89595
CAAGT | AGTAAAGAAGAGAAACACCTTCCTCTTGTCCATGCGGTTCATGGACCCCGAGATG c.1860
Q V | V K K R N T F L L S M R F M D P E M p.620
. . . . . . g.89655
GAAACCCGCTACTCGGTGGAGAAGGAGAAGCAGAGTGGGGCTGCCTTCAGCTGCTCCTGC c.1920
E T R Y S V E K E K Q S G A A F S C S C p.640
. . . . | 11. . g.92450
GTCGTCCTGCTCTGCACGGCCCTGGTCGAGATACTCATCGACCCCTG | GCTAATGACAAAC c.1980
V V L L C T A L V E I L I D P W | L M T N p.660
. . . . . . g.92510
TATGTGACCTTCATGGTGGGGGAGATTCTGCTCCTCATCCTGACCATCTGCTCCCTGGCT c.2040
Y V T F M V G E I L L L I L T I C S L A p.680
. | 12 . . . . . g.93406
GCCATCTTTCCCCGG | GCCTTTCCTAAGAAGCTTGTGGCCTTCTCAACTTGGATTGACCGG c.2100
A I F P R | A F P K K L V A F S T W I D R p.700
. . . . . . g.93466
ACCCGCTGGGCCAGGAACACCTGGGCCATGCTCGCCATCTTCATCCTGGTGATGGCAAAT c.2160
T R W A R N T W A M L A I F I L V M A N p.720
. | 13 . . . . . g.96073
GTCGTGGACATG | CTCAGCTGTCTCCAGTACTACACGGGACCCAGCAATGCAACGGCAGGG c.2220
V V D M | L S C L Q Y Y T G P S N A T A G p.740
. . . . . . g.96133
ATGGAAACGGAGGGCAGCTGCCTGGAGAACCCCAAGTATTACAACTATGTGGCCGTGCTG c.2280
M E T E G S C L E N P K Y Y N Y V A V L p.760
. . . . . . g.96193
TCCCTCATCGCCACCATCATGCTGGTGCAGGTCAGCCACATGGTGAAGCTCACGCTCATG c.2340
S L I A T I M L V Q V S H M V K L T L M p.780
. . . . . . g.96253
CTGCTCGTCGCAGGCGCCGTGGCCACCATCAACCTCTATGCCTGGCGTCCCGTCTTTGAT c.2400
L L V A G A V A T I N L Y A W R P V F D p.800
. . . | 14 . . . g.96606
GAATACGACCACAAGCGTTTTCGGGAGCACGA | CTTACCTATGGTGGCCTTAGAGCAGATG c.2460
E Y D H K R F R E H D | L P M V A L E Q M p.820
. . . | 15 . . . g.98085
CAAGGATTCAACCCTGGGCTCAATGGCACTGACAG | GCTGCCCCTGGTGCCTTCCAAGTAC c.2520
Q G F N P G L N G T D R | L P L V P S K Y p.840
. . . . . | 16. g.99653
TCTATGACGGTGATGGTGTTCCTCATGATGCTCAGCTTCTACTACTTCTCCCGCCAC | GTA c.2580
S M T V M V F L M M L S F Y Y F S R H | V p.860
. . . . . . g.99713
GAAAAACTGGCACGGACACTTTTCTTGTGGAAGATTGAGGTCCACGACCAGAAGGAACGT c.2640
E K L A R T L F L W K I E V H D Q K E R p.880
. . . . . . g.99773
GTCTATGAGATGCGACGCTGGAACGAGGCCTTGGTCACCAACATGTTGCCTGAGCACGTG c.2700
V Y E M R R W N E A L V T N M L P E H V p.900
. . . | 17 . . . g.100855
GCACGCCATTTCCTGGGGTCCAAGAAGAGAGATGAG | GAGCTGTATAGCCAGACGTATGAT c.2760
A R H F L G S K K R D E | E L Y S Q T Y D p.920
. . . . . . g.100915
GAGATTGGAGTCATGTTTGCCTCCCTGCCCAACTTTGCTGACTTCTACACAGAGGAGAGC c.2820
E I G V M F A S L P N F A D F Y T E E S p.940
. . . . . . g.100975
ATCAACAATGGTGGTATTGAGTGTCTGCGTTTCCTCAATGAAATCATCTCAGATTTTGAC c.2880
I N N G G I E C L R F L N E I I S D F D p.960
| 18 . . . . . . g.101613
TCT | CTCCTGGACAATCCCAAGTTCCGGGTGATCACCAAGATCAAAACCATTGGCAGCACG c.2940
S | L L D N P K F R V I T K I K T I G S T p.980
. . . . . . g.101673
TATATGGCGGCTTCAGGAGTCACCCCCGATGTCAACACCAATGGCTTTGCCAGCTCCAAC c.3000
Y M A A S G V T P D V N T N G F A S S N p.1000
| 19 . . . . . . g.102603
AAG | GAAGACAAGTCCGAGAGAGAGCGCTGGCAGCACCTGGCTGACCTGGCCGACTTCGCG c.3060
K | E D K S E R E R W Q H L A D L A D F A p.1020
. . . . . . g.102663
CTGGCCATGAAGGATACGCTCACCAACATCAACAACCAGTCCTTCAATAACTTCATGCTG c.3120
L A M K D T L T N I N N Q S F N N F M L p.1040
| 20. . . . . . g.103391
CGCATAG | GCATGAACAAAGGCGGGGTTCTGGCTGGGGTCATCGGAGCCCGGAAACCACAC c.3180
R I G | M N K G G V L A G V I G A R K P H p.1060
. . . . . . g.103451
TACGACATCTGGGGCAATACAGTCAATGTAGCCAGCAGGATGGAGTCCACGGGGGTCATG c.3240
Y D I W G N T V N V A S R M E S T G V M p.1080
. | 21 . . . . . g.104120
GGCAACATTCAG | GTGGTAGAAGAAACCCAAGTCATCCTCCGAGAGTACGGCTTCCGCTTT c.3300
G N I Q | V V E E T Q V I L R E Y G F R F p.1100
. . . . . . g.104180
GTGAGGCGAGGCCCCATCTTTGTGAAGGGGAAGGGGGAGCTGCTGACCTTCTTCTTGAAG c.3360
V R R G P I F V K G K G E L L T F F L K p.1120
. . . . . . g.104240
GGGCGGGATAAGCTAGCCACCTTCCCCAATGGCCCCTCTGTCACACTGCCCCACCAGGTG c.3420
G R D K L A T F P N G P S V T L P H Q V p.1140
. g.104255
GTGGACAACTCCTGA c.3435
V D N S X p.1144
. . . . . . g.104315
atggcctcgagcctgcaacagtccaaaccggaagggagaatttattttttgaaactgaag c.*60
. . . . . . g.104375
gaagtcccgaccttcctggattgaagtgcacactcatggactttaggtttagaaacctcc c.*120
. . . . . . g.104435
tcagccttcatttgttcgtggatgtgtgagctctgagggtggccctgctattcctgtgtg c.*180
. . . . . . g.104495
tgcctgtagtgtccccagcataggggtcttaggcatagggctgaacagtccttccagagc c.*240
. . . . . . g.104555
cctcgttccaatccctgccgtccttgcccctgaggggccctgaccactgtgagcaggagg c.*300
. . . . . . g.104615
gtggcagagctgggacaaagctgcctttgccgctgggctttccgggactgtggagggagc c.*360
. . . . . . g.104675
acaggcggggaagctccacttcagacagggcttggtggggcaggacatggctcccatttt c.*420
. . . . . . g.104735
gaagggaggtctccatgtggtccgagtgaggtgagacggccctcgtcctggtgttcctga c.*480
. . . . . . g.104795
tcatcttgaaaggttcttctggaactcctgtccccttagtcatgagaacagaaagtgcaa c.*540
. . . . . . g.104855
tatttcctttcacctggcaggggaggggggatttatttctgaaagaaaaatatataaaca c.*600
. . . . . . g.104915
gatcttctacatttatatttttaatcttctgttaaatacactttccgatattgccttgcc c.*660
. . . . . . g.104975
ttttgagctcttgctacagtcgcctttgctactgctttaagagaatttacaggtattgat c.*720
. . . . g.105018
aaagaacaagactgttttattaaaagctttattcaacttgaaa c.*763
(downstream sequence)
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