(used for variant description)
(last modified May 29, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_199355.2 in the ADAMTS18 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031879.1, covering ADAMTS18 transcript NM_199355.2.
(upstream sequence)
. . . . . g.5059
aatcaccgcgcggtggagaggcgggcgctcggctccggcgcgctgggggagccagctgg c.-361
. . . . . . g.5119
cgctgtcttccccatcgcctcagacgctcacaccgacacagacagacgcacagacgggcg c.-301
. . . . . . g.5179
ggcagacaccgacagtctcccaaccgtttgcgctccagtcccggcccagggagccccccg c.-241
. . . . . . g.5239
taccctctggggtgccgcaaactgcagctcggcaggcccgcgccgggagaagggagggcg c.-181
. . . . . . g.5299
cgcaggcggccggaggaggggaggtcccagcgcgcccccgctgcgatgtgaacggcggcg c.-121
. . . . . . g.5359
gctctcacctggagccgcacctggggcgccgagctccggggccgcggaaagaatgcgcgc c.-61
. . . . . . g.5419
cgcccgtgcgctccgcctgccgcgtctggccacccgcagccgccgcgtccgcacctgacc c.-1
. . . . . . g.5479
ATGGAGTGCGCCCTCCTGCTCGCGTGTGCCTTCCCGGCTGCGGGTTCGGGCCCGCCGAGG c.60
M E C A L L L A C A F P A A G S G P P R p.20
. . . | 02 . . . g.5639
GGCCTGGCGGGACTGGGGCGCGTGGCCAAG | GCGCTCCAGCTGTGCTGCCTCTGCTGTGCG c.120
G L A G L G R V A K | A L Q L C C L C C A p.40
. . . . . | 03 g.8505
TCGGTCGCCGCGGCCTTAGCCAGTGACAGCAGCAGCGGCGCCAGCGGATTAAATGATG | AT c.180
S V A A A L A S D S S S G A S G L N D D | p.60
. . . . . . g.8565
TACGTCTTTGTCACGCCAGTAGAAGTAGACTCAGCCGGGTCATATATTTCACACGACATT c.240
Y V F V T P V E V D S A G S Y I S H D I p.80
. . . . . . g.8625
TTGCACAACGGCAGGAAAAAGCGATCGGCGCAGAATGCCAGAAGCTCCCTGCACTACCGA c.300
L H N G R K K R S A Q N A R S S L H Y R p.100
. . . . . . g.8685
TTTTCAGCATTTGGACAGGAACTGCACTTAGAACTTAAGCCCTCGGCGATTTTGAGCAGT c.360
F S A F G Q E L H L E L K P S A I L S S p.120
. . . . . . g.8745
CACTTTATTGTCCAGGTACTTGGAAAAGATGGTGCTTCAGAGACTCAGAAACCCGAGGTG c.420
H F I V Q V L G K D G A S E T Q K P E V p.140
. . . . . . g.8805
CAGCAATGCTTCTATCAGGGATTTATCAGAAATGACAGCTCCTCCTCTGTCGCTGTGTCT c.480
Q Q C F Y Q G F I R N D S S S S V A V S p.160
. | 04 . . . . . g.72436
ACGTGTGCTGGCTTG | TCAGGTTTAATAAGGACACGAAAAAATGAATTCCTCATCTCGCCA c.540
T C A G L | S G L I R T R K N E F L I S P p.180
. . . . . . g.72496
TTACCTCAGCTTCTGGCCCAGGAACACAACTACAGCTCCCCTGCGGGTCACCATCCTCAC c.600
L P Q L L A Q E H N Y S S P A G H H P H p.200
. . . . . . g.72556
GTACTGTACAAAAGGACAGCAGAGGAGAAGATCCAGCGGTACCGTGGCTACCCCGGCTCT c.660
V L Y K R T A E E K I Q R Y R G Y P G S p.220
. . . . . . g.72616
GGCCGGAATTATCCTGGTTACTCCCCAAGTCACATTCCCCATGCATCTCAGAGTCGAGAG c.720
G R N Y P G Y S P S H I P H A S Q S R E p.240
. . . . . | 05 g.75735
ACAGAGTATCACCATCGAAGGTTGCAAAAGCAGCATTTTTGTGGACGACGCAAGAAAT | AT c.780
T E Y H H R R L Q K Q H F C G R R K K Y | p.260
. . . . . . g.75795
GCTCCCAAGCCTCCCACAGAGGACACCTATCTAAGGTTTGATGAATATGGGAGCTCTGGG c.840
A P K P P T E D T Y L R F D E Y G S S G p.280
. . . . . . g.75855
CGACCCAGAAGATCAGCTGGAAAATCACAAAAGGGCCTCAATGTGGAAACCCTCGTGGTG c.900
R P R R S A G K S Q K G L N V E T L V V p.300
. . . . . . g.75915
GCAGACAAGAAAATGGTGGAAAAGCATGGCAAGGGAAATGTCACCACATACATTCTCACA c.960
A D K K M V E K H G K G N V T T Y I L T p.320
. | 06 . . . . . g.76277
GTAATGAACATG | GTTTCTGGCCTATTTAAAGATGGGACTATTGGAAGTGACATAAACGTG c.1020
V M N M | V S G L F K D G T I G S D I N V p.340
. . . | 07 . . . g.77874
GTTGTGGTGAGCCTAATTCTTCTGGAACAAGAACCT | GGAGGATTATTGATCAACCATCAT c.1080
V V V S L I L L E Q E P | G G L L I N H H p.360
. . . . . . g.77934
GCAGACCAGTCTCTGAATAGTTTTTGTCAATGGCAGTCTGCCCTCATTGGAAAGAATGGC c.1140
A D Q S L N S F C Q W Q S A L I G K N G p.380
. . . . . . g.77994
AAGAGACATGATCATGCCATCTTACTAACAGGATTTGATATTTGTTCTTGGAAGAATGAA c.1200
K R H D H A I L L T G F D I C S W K N E p.400
. | 08 . . . . . g.80735
CCATGTGACACTCTAG | GGTTTGCCCCCATCAGTGGAATGTGCTCTAAGTACCGAAGTTGT c.1260
P C D T L G | F A P I S G M C S K Y R S C p.420
. . . . . . g.80795
ACCATCAATGAGGACACAGGACTTGGCCTTGCCTTCACCATCGCTCATGAGTCAGGGCAC c.1320
T I N E D T G L G L A F T I A H E S G H p.440
| 09 . . . . . . g.84095
AA | CTTTGGTATGATTCACGATGGAGAAGGGAATCCCTGCAGAAAGGCTGAAGGCAATATC c.1380
N | F G M I H D G E G N P C R K A E G N I p.460
. . . . . . g.84155
ATGTCTCCCACACTGACCGGAAACAATGGAGTGTTTTCATGGTCTTCCTGCAGCCGCCAG c.1440
M S P T L T G N N G V F S W S S C S R Q p.480
. . | 10 . . . . g.86268
TATCTCAAGAAATTCCTCAG | CACACCTCAGGCGGGGTGTCTAGTGGATGAGCCCAAGCAA c.1500
Y L K K F L S | T P Q A G C L V D E P K Q p.500
. . . . . . g.86328
GCAGGACAGTATAAATATCCGGACAAACTACCAGGACAGATTTATGATGCTGACACACAG c.1560
A G Q Y K Y P D K L P G Q I Y D A D T Q p.520
. . . . . | 11 . g.98321
TGTAAATGGCAATTTGGAGCAAAAGCCAAGTTATGCAGCCTTGGTTTTGTGAAG | GATATT c.1620
C K W Q F G A K A K L C S L G F V K | D I p.540
. . . . . . g.98381
TGCAAATCACTTTGGTGCCACCGAGTAGGCCACAGGTGTGAGACCAAGTTTATGCCCGCA c.1680
C K S L W C H R V G H R C E T K F M P A p.560
. . . | 12 . . . g.104240
GCAGAAGGGACCGTTTGTGGCTTGAGTATG | TGGTGTCGGCAAGGCCAGTGCGTAAAGTTT c.1740
A E G T V C G L S M | W C R Q G Q C V K F p.580
. . . . . . g.104300
GGGGAGCTCGGGCCCCGGCCCATCCACGGCCAGTGGTCCGCCTGGTCGAAGTGGTCAGAA c.1800
G E L G P R P I H G Q W S A W S K W S E p.600
. . . . . | 13 g.114077
TGTTCCCGGACATGTGGTGGAGGAGTCAAGTTCCAGGAGAGACACTGCAATAACCCCAA | G c.1860
C S R T C G G G V K F Q E R H C N N P K | p.620
. . . . . . g.114137
CCTCAGTATGGTGGCTTATTCTGTCCAGGTTCTAGCCGTATTTATCAGCTGTGCAATATT c.1920
P Q Y G G L F C P G S S R I Y Q L C N I p.640
. . . . . . g.114197
AACCCTTGCAATGAAAATAGCTTGGATTTTCGGGCTCAACAGTGTGCAGAATATAACAGC c.1980
N P C N E N S L D F R A Q Q C A E Y N S p.660
. . . . . | 14 . g.117656
AAACCTTTCCGTGGATGGTTCTACCAGTGGAAACCCTATACAAAAGTGGAAG | AGGAAGAT c.2040
K P F R G W F Y Q W K P Y T K V E E | E D p.680
. . . . . . g.117716
CGATGCAAACTGTACTGCAAGGCTGAGAACTTTGAATTTTTTTTTGCAATGTCCGGCAAA c.2100
R C K L Y C K A E N F E F F F A M S G K p.700
. . . . . . g.117776
GTGAAAGATGGAACTCCCTGCTCCCCAAACAAAAATGATGTTTGTATTGACGGGGTTTGT c.2160
V K D G T P C S P N K N D V C I D G V C p.720
| 15 . . . . . . g.118969
GAA | CTAGTGGGATGTGATCATGAACTAGGCTCTAAAGCAGTTTCAGATGCTTGTGGCGTT c.2220
E | L V G C D H E L G S K A V S D A C G V p.740
. . . . . . g.119029
TGCAAAGGTGATAATTCAACTTGCAAGTTTTATAAAGGCCTGTACCTCAACCAGCATAAA c.2280
C K G D N S T C K F Y K G L Y L N Q H K p.760
| 16. . . . . . g.120074
GCAAATG | AATATTATCCGGTGGTCCTCATTCCAGCTGGCGCCCGAAGCATCGAAATCCAG c.2340
A N E | Y Y P V V L I P A G A R S I E I Q p.780
. . . . . . g.120134
GAGCTGCAGGTTTCCTCCAGTTACCTCGCAGTTCGAAGCCTCAGTCAAAAGTATTACCTC c.2400
E L Q V S S S Y L A V R S L S Q K Y Y L p.800
. . . . . . g.120194
ACCGGGGGCTGGAGCATCGACTGGCCTGGGGAGTTCCCCTTCGCTGGGACCACGTTTGAA c.2460
T G G W S I D W P G E F P F A G T T F E p.820
. . . . . . g.120254
TACCAGCGCTCTTTCAACCGCCCGGAACGTCTGTACGCGCCAGGGCCCACAAATGAGACG c.2520
Y Q R S F N R P E R L Y A P G P T N E T p.840
. | 17 . . . . . g.139758
CTGGTCTTTGAA | ATTCTGATGCAAGGCAAAAATCCAGGGATAGCTTGGAAGTATGCACTT c.2580
L V F E | I L M Q G K N P G I A W K Y A L p.860
. . . . . . g.139818
CCCAAGGTCATGAATGGAACTCCACCAGCCACAAAAAGACCTGCCTATACCTGGAGTATC c.2640
P K V M N G T P P A T K R P A Y T W S I p.880
. . . | 18 . . . g.142725
GTGCAGTCAGAGTGCTCCGTCTCCTGTGGTGGAG | GTTACATAAATGTAAAGGCCATTTGC c.2700
V Q S E C S V S C G G G | Y I N V K A I C p.900
. . . . . . g.142785
TTGCGAGATCAAAATACTCAAGTCAATTCCTCATTCTGCAGTGCAAAAACCAAGCCAGTA c.2760
L R D Q N T Q V N S S F C S A K T K P V p.920
. . . . | 19 . . g.145006
ACTGAGCCCAAAATCTGCAACGCTTTCTCCTGCCCGGCTTA | CTGGATGCCAGGTGAATGG c.2820
T E P K I C N A F S C P A Y | W M P G E W p.940
. . . . . . g.145066
AGTACATGCAGCAAGGCCTGTGCTGGAGGCCAGCAGAGCCGAAAGATCCAGTGTGTGCAA c.2880
S T C S K A C A G G Q Q S R K I Q C V Q p.960
. . . . . . g.145126
AAGAAGCCCTTCCAAAAGGAGGAAGCAGTGTTGCATTCTCTCTGTCCAGTGAGCACACCC c.2940
K K P F Q K E E A V L H S L C P V S T P p.980
. . . . . . g.145186
ACTCAGGTCCAAGCCTGCAACAGCCATGCCTGCCCTCCACAATGGAGCCTTGGACCCTGG c.3000
T Q V Q A C N S H A C P P Q W S L G P W p.1000
| 20 . . . . . . g.146910
TCTCAG | TGTTCCAAGACCTGTGGACGAGGGGTGAGGAAGCGTGAACTCCTCTGCAAGGGC c.3060
S Q | C S K T C G R G V R K R E L L C K G p.1020
. . . . . . g.146970
TCTGCCGCAGAAACCCTCCCCGAGAGCCAGTGTACCAGTCTCCCCAGACCTGAGCTGCAG c.3120
S A A E T L P E S Q C T S L P R P E L Q p.1040
. . . . . . g.147030
GAGGGCTGTGTGCTTGGACGATGCCCCAAGAACAGCCGGCTACAGTGGGTCGCTTCTTCG c.3180
E G C V L G R C P K N S R L Q W V A S S p.1060
| 21 . . . . . g.148687
TGGAGCGAG | TGTTCTGCAACCTGTGGTTTGGGTGTGAGGAAGAGGGAGATGAAGTGCAGC c.3240
W S E | C S A T C G L G V R K R E M K C S p.1080
. . . . . . g.148747
GAGAAGGGCTTCCAGGGAAAGCTGATAACTTTCCCAGAGCGAAGATGCCGTAATATTAAG c.3300
E K G F Q G K L I T F P E R R C R N I K p.1100
. . . . . . g.148807
AAACCAAATCTGGACTTGGAAGAGACCTGCAACCGACGGGCTTGCCCAGCCCATCCAGTG c.3360
K P N L D L E E T C N R R A C P A H P V p.1120
. . . . | 22 . . g.150721
TACAACATGGTAGCTGGATGGTATTCATTGCCGTGGCAGCAG | TGCACAGTCACCTGTGGG c.3420
Y N M V A G W Y S L P W Q Q | C T V T C G p.1140
. . . . . . g.150781
GGAGGGGTCCAGACCCGGTCAGTCCACTGTGTTCAGCAAGGCCGGCCTTCCTCAAGTTGT c.3480
G G V Q T R S V H C V Q Q G R P S S S C p.1160
. . . . . . g.150841
CTGCTCCATCAGAAACCTCCGGTGCTACGAGCCTGTAATACAAACTTCTGTCCAGCTCCT c.3540
L L H Q K P P V L R A C N T N F C P A P p.1180
. | 23 . . . . . g.156093
GAAAAGAGAG | AGGATCCATCCTGCGTAGATTTCTTCAACTGGTGTCACCTAGTTCCTCAG c.3600
E K R E | D P S C V D F F N W C H L V P Q p.1200
. . . . . . g.156153
CATGGTGTCTGCAACCACAAGTTTTACGGAAAACAATGCTGCAAGTCATGCACAAGGAAG c.3660
H G V C N H K F Y G K Q C C K S C T R K p.1220
g.156159
ATCTGA c.3666
I X p.1221
. . . . . . g.156219
tcttggtgtcctccccagcaccttagggccaggggcttacctttcaacctctagagagac c.*60
. . . . . . g.156279
cagctgcctttgagaccaggagctgagcaccgagaaccatctgtgagctgccgctgtgat c.*120
. . . . . . g.156339
gaaggagcctgctctgaggaacagacaggttgccagtaggcttctagctcaattccctga c.*180
. . . . . . g.156399
agcacgtggtactctgaagcacttgaaaatgggaagcgatgacaaatctgactttaaaaa c.*240
. . . . . . g.156459
aaatctttgatttgcactgttatatgcaagaagtggtgaatcacactgagatacgtcgat c.*300
. . . . . . g.156519
ttggggagagacccccttttgaacttcaaagggttcaagggcaaagacatctgttttaaa c.*360
. . . . . . g.156579
aaggtcctttatgacttcaggtcaaagactgagactcagaactttcaaatctggatggaa c.*420
. . . . . . g.156639
taccttgcctaactgttgcgtggagttcacagttcgactaaccctgtgaacacccaagcc c.*480
. . . . . . g.156699
aggagttctatgagaagccaaatggtgctcgcaattgtgcttgctgctggactggcaagc c.*540
. . . . . . g.156759
ttcatgttatgtttatttggtgtgcgtgtgtctttattattttgtgtaaactatattctg c.*600
. . . . . . g.156819
cttatagagagtctctgagactaaaattgacaacttgaaaagtattccaaggaatattat c.*660
. . . . . . g.156879
gaaaatagggcaacatggactgtttaagatctccatgtaattgaaattcatgcaaggaaa c.*720
. . . . . . g.156939
caactcatagaaaagataaatatggatgcccttcacatgttatcaacctcgtaacttttg c.*780
. . . . . . g.156999
gtgcttgctgaatcagtccatgaaaagctacagcccgctctttgggaatgctacataccc c.*840
. . . . . . g.157059
atttctggtatttaaaaaatatctaggaggagctaaatgacaaaacacagcagtgttttg c.*900
. . . . . . g.157119
agggagaaaggaccatcatttataatgctctgtacatactaccagagctgcttggaaaat c.*960
. . . . . . g.157179
taaaggccacttgtggctttttcctaccaactgatacgtttaaatttgccctaggattga c.*1020
. . . . . . g.157239
gctaacagcaaaaaaaaaaaaaaaaaaaagagagaaagaaaggagtaaacagtggtaata c.*1080
. . . . . . g.157299
aaaaaatccatctgtcttcttgctatgttaatattaataaatcataatatgacaagaccc c.*1140
. . . . . . g.157359
tcactgaataagagtattttcagtcatcagaagccagctgttggtaggcattaatgagtt c.*1200
. . . . . . g.157419
taaaattgttctcaattgaaaaaacatcacactattttgccaaaaccaaagtaattataa c.*1260
. . . . . . g.157479
tactgtgtcctcctgtaattttttgagaagtggttataaagggcatatttacataaattc c.*1320
. . . . . . g.157539
tactttattcctcaacttctttgatgaatgtaacccaattttacttctttaaaaagtctc c.*1380
. . . . . . g.157599
aattcaagctggattagccagctcagcataatcaactagacagtggtttgttaaatttag c.*1440
. . . . . . g.157659
cagcatacttcgttcccattctaattaaagtcatgagttcttgaatcccagagaaataat c.*1500
. . . . . . g.157719
gcttaggaacttctctcaatctgcttggcttggcctagagaagtggccattttatcaaca c.*1560
. . . . . . g.157779
ggaaaaaaaaaaattttctctactacaaccccgttgccttctgaaaaacagcaagttatt c.*1620
. . . . . . g.157839
tctttatataattatcattttattattttatggaaaattaatttattaattaatagccta c.*1680
. . . . . . g.157899
ttatgtgttctcacttgcttctctaagtaatattttgagataaaatgttgaataaaacca c.*1740
. . . . . . g.157959
tggattatagagaaaagtcaaaatatatgtgtaatatttaattattttataagttttata c.*1800
. . g.157987
ataaagtattccatttctttatctttga c.*1828
(downstream sequence)
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