(used for variant description)
(last modified June 14, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_139057.2 in the ADAMTS17 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016287.1, covering ADAMTS17 transcript NM_139057.2.
(upstream sequence)
. g.5019
ttcactccggctggcgccg c.-61
. . . . . . g.5079
ccgcctagcgcgctcctgcttcgccgccacggtccgggggggctgccggtcccgggtacc c.-1
. . . . . . g.5139
ATGTGTGACGGCGCCCTGCTGCCTCCGCTCGTCCTGCCCGTGCTGCTGCTGCTGGTTTGG c.60
M C D G A L L P P L V L P V L L L L V W p.20
. | 02 . . . . g.5610
GGACTGGACCCGGGCACAG | CTGTCGGCGACGCGGCGGCCGACGTGGAGGTGGTGCTCCCG c.120
G L D P G T A | V G D A A A D V E V V L P p.40
. . . . . . g.5670
TGGCGGGTGCGCCCCGACGACGTGCACCTGCCGCCGCTGCCCGCAGCCCCCGGGCCCCGA c.180
W R V R P D D V H L P P L P A A P G P R p.60
. . . . . . g.5730
CGGCGGCGACGCCCCCGCACGCCCCCAGCCGCCCCGCGCGCCCGGCCCGGAGAGCGCGCC c.240
R R R R P R T P P A A P R A R P G E R A p.80
. . . . . . g.5790
CTGCTGCTGCACCTGCCGGCCTTCGGGCGCGACCTGTACCTTCAGCTGCGCCGCGACCTG c.300
L L L H L P A F G R D L Y L Q L R R D L p.100
. . . . . . g.5850
CGCTTCCTGTCCCGAGGCTTCGAGGTGGAGGAGGCGGGCGCGGCCCGGCGCCGCGGCCGC c.360
R F L S R G F E V E E A G A A R R R G R p.120
. . . . . . g.5910
CCCGCCGAGCTGTGCTTCTACTCGGGCCGTGTGCTCGGCCACCCCGGCTCCCTCGTCTCG c.420
P A E L C F Y S G R V L G H P G S L V S p.140
. . . | 03 . . . g.15954
CTCAGCGCCTGCGGCGCCGCCGGCGGCCTG | GTTGGCCTCATTCAGCTTGGGCAGGAGCAG c.480
L S A C G A A G G L | V G L I Q L G Q E Q p.160
. . . . . . g.16014
GTGCTAATCCAGCCCCTCAACAACTCCCAGGGCCCATTCAGTGGACGAGAACATCTGATC c.540
V L I Q P L N N S Q G P F S G R E H L I p.180
. . . . . . g.16074
AGGCGCAAATGGTCCTTGACCCCCAGCCCTTCTGCTGAGGCCCAGAGACCTGAGCAGCTC c.600
R R K W S L T P S P S A E A Q R P E Q L p.200
. | 04 . . . . . g.65621
TGCAAGGTTCTAACAG | AAAAGAAGAAGCCGACGTGGGGCAGGCCTTCGCGGGACTGGCGG c.660
C K V L T E | K K K P T W G R P S R D W R p.220
. . . . . . g.65681
GAGCGGAGGAACGCTATCCGGCTCACCAGCGAGCACACGGTGGAGACCCTGGTGGTGGCC c.720
E R R N A I R L T S E H T V E T L V V A p.240
. . . . . . g.65741
GACGCCGACATGGTGCAGTACCACGGGGCCGAGGCCGCCCAGAGGTTCATCCTGACCGTC c.780
D A D M V Q Y H G A E A A Q R F I L T V p.260
| 05 . . . . . g.84594
ATGAACATG | GTATACAATATGTTTCAGCACCAGAGCCTGGGGATTAAAATTAACATTCAA c.840
M N M | V Y N M F Q H Q S L G I K I N I Q p.280
. . . | 06 . . . g.85369
GTGACCAAGCTTGTCCTGCTACGACAACGTCCC | GCTAAGTTGTCCATTGGGCACCATGGT c.900
V T K L V L L R Q R P | A K L S I G H H G p.300
. . . . . . g.85429
GAGCGGTCCCTGGAGAGCTTCTGTCACTGGCAGAACGAGGAGTATGGAGGAGCGCGATAC c.960
E R S L E S F C H W Q N E E Y G G A R Y p.320
. . . . . . g.85489
CTCGGCAATAACCAGGTTCCCGGCGGGAAGGACGACCCGCCCCTGGTGGATGCTGCCGTG c.1020
L G N N Q V P G G K D D P P L V D A A V p.340
. | 07 . . . . | 08 . g.147560
TTTGTGACCAG | GACAGATTTCTGTGTACACAAGGATGAACCGTGTGACACTGTTG | GAATT c.1080
F V T R | T D F C V H K D E P C D T V G | I p.360
. . . . . . g.147620
GCTTACTTAGGAGGTGTGTGCAGTGCTAAGAGGAAGTGTGTGCTTGCCGAAGACAATGGT c.1140
A Y L G G V C S A K R K C V L A E D N G p.380
. . . . | 09 . . g.191677
CTCAATTTGGCCTTTACCATCGCCCATGAGCTGGGCCACAA | CTTGGGCATGAACCACGAC c.1200
L N L A F T I A H E L G H N | L G M N H D p.400
. . . . . . g.191737
GATGACCACTCATCTTGCGCTGGCAGGTCCCACATCATGTCAGGAGAGTGGGTGAAAGGC c.1260
D D H S S C A G R S H I M S G E W V K G p.420
. . . . . . g.191797
CGGAACCCAAGTGACCTCTCTTGGTCCTCCTGCAGCCGAGATGACCTTGAAAACTTCCTC c.1320
R N P S D L S W S S C S R D D L E N F L p.440
| 10 . . . . . . g.194274
AA | GTCAAAAGTCAGCACCTGCTTGCTAGTCACGGACCCCAGAAGCCAGCACACAGTACGC c.1380
K | S K V S T C L L V T D P R S Q H T V R p.460
. . . . . . g.194334
CTCCCGCACAAGCTGCCGGGCATGCACTACAGTGCCAACGAGCAGTGCCAGATCCTGTTT c.1440
L P H K L P G M H Y S A N E Q C Q I L F p.480
. . . | 11 . . . g.213690
GGCATGAATGCCACCTTCTGCAGAAACATGGAG | CATCTAATGTGTGCTGGACTGTGGTGC c.1500
G M N A T F C R N M E | H L M C A G L W C p.500
. . . . . . g.213750
CTGGTAGAAGGAGACACATCCTGCAAGACCAAGCTGGACCCTCCCCTGGATGGCACCGAG c.1560
L V E G D T S C K T K L D P P L D G T E p.520
. | 12 . . . . . g.214871
TGTGGGGCAGACAAG | TGGTGCCGCGCGGGGGAGTGCGTGAGCAAGACGCCCATCCCGGAG c.1620
C G A D K | W C R A G E C V S K T P I P E p.540
. . . . . . g.214931
CATGTGGACGGAGACTGGAGCCCGTGGGGCGCCTGGAGCATGTGCAGCCGAACATGTGGG c.1680
H V D G D W S P W G A W S M C S R T C G p.560
. . . . | 13 . . g.229984
ACGGGAGCCCGCTTCAGGCAGAGGAAATGTGACAACCCCCC | CCCTGGGCCTGGAGGCACA c.1740
T G A R F R Q R K C D N P P | P G P G G T p.580
. . . . . . g.230044
CACTGCCCGGGTGCCAGTGTAGAACATGCGGTCTGCGAGAACCTGCCCTGCCCCAAGGGT c.1800
H C P G A S V E H A V C E N L P C P K G p.600
. . . . . . g.230104
CTGCCCAGCTTCCGGGACCAGCAGTGCCAGGCACACGACCGGCTGAGCCCCAAGAAGAAA c.1860
L P S F R D Q Q C Q A H D R L S P K K K p.620
. . | 14 . . . g.237894
GGCCTGCTGACAGCCGTGGTGGTTGACG | ATAAGCCATGTGAACTCTACTGCTCGCCCCTC c.1920
G L L T A V V V D D | K P C E L Y C S P L p.640
. . . . . . g.237954
GGGAAGGAGTCCCCACTGCTGGTGGCCGACAGGGTCCTGGACGGTACACCCTGCGGGCCC c.1980
G K E S P L L V A D R V L D G T P C G P p.660
. . . | 15 . . . g.250526
TACGAGACTGATCTCTGCGTGCACGGCAAGTGCCAG | AAAATCGGCTGTGACGGCATCATC c.2040
Y E T D L C V H G K C Q | K I G C D G I I p.680
. . . . . . g.250586
GGGTCTGCAGCCAAAGAGGACAGATGCGGGGTCTGCAGCGGGGACGGCAAGACCTGCCAC c.2100
G S A A K E D R C G V C S G D G K T C H p.700
. . . | 16. . . g.292947
TTGGTGAAGGGCGACTTCAGCCACGCCCGGGGGACAG | CTCTCAAAGACTCGGGTAAGGGG c.2160
L V K G D F S H A R G T A | L K D S G K G p.720
. . . . . . g.293007
TCCATCAACAGTGACTGGAAGATAGAGCTCCCCGGAGAGTTCCAGATTGCAGGCACAACT c.2220
S I N S D W K I E L P G E F Q I A G T T p.740
. . . . . . g.293067
GTTCGCTATGTGAGAAGGGGGCTGTGGGAGAAGATCTCTGCCAAGGGACCAACCAAACTA c.2280
V R Y V R R G L W E K I S A K G P T K L p.760
. | 17 . . . . . g.295292
CCGCTGCACTTGATG | GTGTTGTTATTTCACGACCAAGATTATGGAATTCATTATGAATAC c.2340
P L H L M | V L L F H D Q D Y G I H Y E Y p.780
. . . . . . g.295352
ACTGTTCCTGTAAACCGCACTGCGGAAAATCAAAGCGAACCAGAAAAACCGCAGGACTCT c.2400
T V P V N R T A E N Q S E P E K P Q D S p.800
. . . . . | 18 . g.297991
TTGTTCATCTGGACCCACAGCGGCTGGGAAGGGTGCAGTGTGCAGTGCGGCGGAG | GGGAG c.2460
L F I W T H S G W E G C S V Q C G G G | E p.820
. . . . . . g.298051
CGCAGAACCATCGTCTCGTGTACACGGATTGTCAACAAGACCACAACTCTGGTGAACGAC c.2520
R R T I V S C T R I V N K T T T L V N D p.840
. . . . . . g.298111
AGTGACTGCCCTCAAGCAAGCCGCCCAGAGCCCCAGGTCCGAAGGTGCAACTTGCACCCC c.2580
S D C P Q A S R P E P Q V R R C N L H P p.860
. | 19 . . . . . g.349438
TGCCAGTCACG | GTGGGTGGCAGGCCCGTGGAGCCCCTGCTCGGCGACCTGTGAGAAAGGC c.2640
C Q S R | W V A G P W S P C S A T C E K G p.880
. . . . . . g.349498
TTCCAGCACCGGGAGGTGACCTGCGTGTACCAGCTGCAGAACGGCACACACGTCGCTACG c.2700
F Q H R E V T C V Y Q L Q N G T H V A T p.900
. . . . . . g.349558
CGGCCCCTCTACTGCCCGGGCCCCCGGCCGGCGGCAGTGCAGAGCTGTGAAGGCCAGGAC c.2760
R P L Y C P G P R P A A V Q S C E G Q D p.920
. . . | 20 . . . g.353802
TGCCTGTCCATCTGGGAGGCGTCTGAGTGGTCACAG | TGCTCTGCCAGCTGTGGTAAAGGG c.2820
C L S I W E A S E W S Q | C S A S C G K G p.940
. . . . . . g.353862
GTGTGGAAACGGACCGTGGCGTGCACCAACTCACAAGGGAAATGCGACGCATCCACGAGG c.2880
V W K R T V A C T N S Q G K C D A S T R p.960
. . . . . . g.353922
CCGAGAGCCGAGGAGGCCTGCGAGGACTACTCAGGCTGCTACGAGTGGAAAACTGGGGAC c.2940
P R A E E A C E D Y S G C Y E W K T G D p.980
| 21 . . . . . g.370807
TGGTCTACG | TGCTCGTCGACCTGCGGGAAGGGCCTGCAGTCCCGGGTGGTGCAGTGCATG c.3000
W S T | C S S T C G K G L Q S R V V Q C M p.1000
. . . . . . g.370867
CACAAGGTCACAGGGCGCCACGGCAGCGAGTGCCCCGCCCTCTCGAAGCCTGCCCCCTAC c.3060
H K V T G R H G S E C P A L S K P A P Y p.1020
. . . . . . g.370927
AGACAGTGCTACCAGGAGGTCTGCAACGACAGGATCAACGCCAACACCATCACCTCCCCC c.3120
R Q C Y Q E V C N D R I N A N T I T S P p.1040
| 22. . . . . . g.372469
CGCCTTG | CTGCTCTGACCTACAAATGCACACGAGACCAGTGGACGGTATATTGCCGGGTC c.3180
R L A | A L T Y K C T R D Q W T V Y C R V p.1060
. . . . . . g.372529
ATCCGAGAAAAGAACCTCTGCCAGGACATGCGGTGGTACCAGCGCTGCTGCCAGACCTGC c.3240
I R E K N L C Q D M R W Y Q R C C Q T C p.1080
. . . . g.372577
AGGGACTTCTATGCAAACAAGATGCGCCAGCCACCGCCGAACTCGTGA c.3288
R D F Y A N K M R Q P P P N S X p.1095
. . . . . . g.372637
cacgcagtcccaagggtcgctcaaagctcagactcaggtctgaaacccacccacccgcaa c.*60
. . . . . . g.372697
gcctaccagccttgtggccacgcccccacccggctgccacaagaatccaactacatagaa c.*120
. . . . . . g.372757
catgagcgtggacttggcgtttgccattagtgcttccgtacttaatatattgttaacagc c.*180
. . . . . . g.372817
cactggctggctttctacagtgaggagaaagtaggcatgagtcacaaagtaacttcaatt c.*240
. . . . . . g.372877
tctaggatttcaggtacctcgaagggaagcacctctggcagacaaccgtcaagagagaga c.*300
. . . . . . g.372937
catcatttagtgttcttgtcttgactcgcttttgacatttgaatttccagtgcttggtat c.*360
. . . . . . g.372997
atcatggaggaaacatccccaaaacgagacatgctagaaaaggctttattctgaaagccg c.*420
. . . . . . g.373057
gcgacaccatggagggaggggcaggtgttggtgagcctctgcccgtggcttctctgggga c.*480
. . . . . . g.373117
gggccgggctgcttagcacacgtttctctccatctaccttcttgaccacatgagaaccag c.*540
. . . . . . g.373177
gacgttgcctccatgcccgtctctgagaacatagtctctaaatcctaggtgttgccttgg c.*600
. . . . . . g.373237
aagtctcgtgcgtggagtgtaaatctatatatgccagcgaggacagcagtgccacgcagt c.*660
. . . . . . g.373297
tcataccacccgcatgggaagaatgttccaagagagtctgggtttggggaagcatctaat c.*720
. . . . . . g.373357
tttcagagctctgctgtccaccgtgtagggaaacagaagggcctctcttcaaggtgctgt c.*780
. . . . . . g.373417
gacataagaaacggtaattgcggtgatggggttgcttcctaaggcaaaggtaagcttggg c.*840
. . . . . . g.373477
ccagcttcactggggcggatgggcacctgccccgccttccgggaacatccactctggcct c.*900
. . . . . . g.373537
gcacttcctaaagctttgtaccttagagatgctgtaccacatcccagtggctttctaccg c.*960
. . . . . . g.373597
accgtggccatttatctgaaggtaagacgacatttgggacctctgaggacacaagcccag c.*1020
. . . . . . g.373657
gcctaggatctgtagagcaaggcctgactgctctatcctggcacggagcagcctgatgtg c.*1080
. . . . . . g.373717
ccaggaccaggggaggaacgccatctggctggcactgctgcacacccgccgagccttcct c.*1140
. . . . . . g.373777
gtagccccagactttgtggtacccattatcatcacgcctgtcatcattgacccatcttct c.*1200
. . . . . . g.373837
tggtggggcaaggatgatgcatgatgaaggaaggtccttcccccctgcagcccccttacg c.*1260
. . . . . . g.373897
cctggcagcagacaagcagagtggcctctttgagagcacagaggatggtagcaccctacc c.*1320
. . . . . . g.373957
tgcaaggaggccgggcagggaccctagatgccaggaggcctgttttgctcaccaacttgg c.*1380
. . . . . . g.374017
tgggcatttcatgggtgcttatgttctaggactttaccgtaaataacacctcctccctga c.*1440
. . . . . . g.374077
tttcagacggaaggtctcacttggacttccatgggatcatctccctgtgcttcttgattt c.*1500
. . . . . . g.374137
attggtgctgtgtttctgtgttttgttttgttacatgtcacaaccgtagagttagcttaa c.*1560
. . . . . . g.374197
atcagaaagaagcctctctgccttctccaccctgtcttacgagctgtgtttttgttttta c.*1620
. . . . . . g.374257
ctaccctagaggcagagaagcggtagggatgtcagggaatttactcacttccacttgaat c.*1680
. . . . . . g.374317
caacgagaagtgttgagaaacttccgtgggtgctctgtggaaagaaccgagggtgtcagg c.*1740
. . . . . . g.374377
atggagcggcccaccctcgccccgcggcctgcgcagactgctgtcctccccttcaggcct c.*1800
. . . . . . g.374437
ggccaccagcagactcccatgaattcccattttcacaaagccctcaaaattttgggggcg c.*1860
. . . . . . g.374497
ctgaggttcaattttcttcatccccaaatgaactgttaattcactgaaagacatttagac c.*1920
. . . . . . g.374557
ttttgcagccaaggagcagagccgggcaagctcactaaggaagccttagcttggtctcct c.*1980
. . . . . . g.374617
gcatgggccccggggcctccagatatgcccactgtcaccctggcaagggccccacaccct c.*2040
. . . . . . g.374677
cagaatgaaaaggattgattgggttattgtcagatacccccattagttcccctaaagtct c.*2100
. . . . . . g.374737
gcatctgcagagctcttttagctcatctttttgttgtcggtgttgttttttgagacagag c.*2160
. . . . . . g.374797
tctccctctgttgcccaggctggagtgcagtggcgcgatctcagctcattgaaagctccg c.*2220
. . . . . . g.374857
cctcccgggttcaggccattcttctgcctcaccctccccagtagctgggactacaggcgc c.*2280
. . . . . . g.374917
ccaccaccacgcccacctacttttttgtatttttactagagacggggtttcaccatgtta c.*2340
. . . . . . g.374977
gccaggatggtctcgatctcctgacctcatgatccacccgcctcagccttccaaagtgct c.*2400
. . . . . . g.375037
gggattacaggagtgagccaccgcgcccggccttttagcttatcttgaaatccaccagcc c.*2460
. . . . . . g.375097
taccttctgttcatggcacgagcagtgatttcagtgaaaccatcataaacattcttgttc c.*2520
. . . . . . g.375157
cactagatgctgatcacagcagtgatgtttctgtgttaataccctgtactgtccctcgag c.*2580
. . . . . . g.375217
tactgtacctttgtgcttgcacacgtgtcactaacgcacgtgttaccagagtctcacgac c.*2640
. . . . . . g.375277
cctacggtgctatttttattggtgcaaaattaaaccctctcagctgaccgttgctggata c.*2700
. . . . . . g.375337
ggatcagaatgcaggaaaagagcctctatggcaatacgattgtccttttttcgtttcaga c.*2760
. . . . . . g.375397
gtcaaatgtatctattttccattcgttaacttgcattacatactgtacccatggaatttt c.*2820
. . . . . . g.375457
tgttttactttttggggctggttttgaaaggaaaaaaaacggaagacaaacattggacgc c.*2880
. . . . . . g.375517
cattatacatgaaaattatatagaaaaattaatcatttcattggaagcaagttgaatatg c.*2940
. . g.375541
tgtaataaaatgtttttccataac c.*2964
(downstream sequence)
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