(used for variant description)
(last modified November 11, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_030957.2 in the ADAMTS10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011840.2, covering ADAMTS10 transcript NM_030957.2.
(upstream sequence)
. . . g.5034
gcgcgcgcggggcggcgagacagcggcggcgacg c.-241
. . . | 02 . . . g.7492
gcgcggaggccccgggcgcggcgcag | gctccaaagaagaagaaaccaaggcccagagagg c.-181
. . . . . . g.7552
gaggcccaggtgcagggagcaggcgagggaaggatccgtacaggggcccaacactactcc c.-121
. . . | 03 . . . g.9933
accaaccgaagcccccaaaag | gagcccggtgatgctgcgaaggctgtgaacaggggaggc c.-61
. . . . . . g.9993
ggcactgtgggggctgccggcagccggggctggggagagacatgtggacacgtggcctct c.-1
. . . . . . g.10053
ATGGCTCCCGCCTGCCAGATCCTCCGCTGGGCCCTCGCCCTGGGGCTGGGCCTCATGTTC c.60
M A P A C Q I L R W A L A L G L G L M F p.20
. . | 04 . . . g.10377
GAGGTCACGCACGCCTTCCGGTCTCAAG | ATGAGTTCCTGTCCAGTCTGGAGAGCTATGAG c.120
E V T H A F R S Q D | E F L S S L E S Y E p.40
. . . . . . g.10437
ATCGCCTTCCCCACCCGCGTGGACCACAACGGGGCACTGCTGGCCTTCTCGCCACCTCCT c.180
I A F P T R V D H N G A L L A F S P P P p.60
. . . . . . g.10497
CCCCGGAGGCAGCGCCGCGGCACGGGGGCCACAGCCGAGTCCCGCCTCTTCTACAAAGTG c.240
P R R Q R R G T G A T A E S R L F Y K V p.80
. . . . . . g.10557
GCCTCGCCCAGCACCCACTTCCTGCTGAACCTGACCCGCAGCTCCCGTCTACTGGCAGGG c.300
A S P S T H F L L N L T R S S R L L A G p.100
. . . . . . g.10617
CACGTCTCCGTGGAGTACTGGACACGGGAGGGCCTGGCCTGGCAGAGGGCGGCCCGGCCC c.360
H V S V E Y W T R E G L A W Q R A A R P p.120
. . . . . . g.10677
CACTGCCTCTACGCTGGTCACCTGCAGGGCCAGGCCAGCACCTCCCATGTGGCCATCAGC c.420
H C L Y A G H L Q G Q A S T S H V A I S p.140
. | 05 . . . . . g.11865
ACCTGTGGAGGCCTG | CACGGCCTGATCGTGGCAGACGAGGAAGAGTACCTGATTGAGCCC c.480
T C G G L | H G L I V A D E E E Y L I E P p.160
. . . . . . g.11925
CTGCACGGTGGGCCCAAGGGTTCTCGGAGCCCGGAGGAAAGTGGACCACATGTGGTGTAC c.540
L H G G P K G S R S P E E S G P H V V Y p.180
. . . . . | 06 . g.14567
AAGCGTTCCTCTCTGCGTCACCCCCACCTGGACACAGCCTGTGGAGTGAGAG | ATGAGAAA c.600
K R S S L R H P H L D T A C G V R D | E K p.200
. . . . . . g.14627
CCGTGGAAAGGGCGGCCATGGTGGCTGCGGACCTTGAAGCCACCGCCTGCCAGGCCCCTG c.660
P W K G R P W W L R T L K P P P A R P L p.220
. . . . . . g.14687
GGGAATGAAACAGAGCGTGGCCAGCCAGGCCTGAAGCGATCGGTCAGCCGAGAGCGCTAC c.720
G N E T E R G Q P G L K R S V S R E R Y p.240
. . . . . . g.14747
GTGGAGACCCTGGTGGTGGCTGACAAGATGATGGTGGCCTATCACGGGCGCCGGGATGTG c.780
V E T L V V A D K M M V A Y H G R R D V p.260
. . . | 07 . . . g.18417
GAGCAGTATGTCCTGGCCATCATGAACATT | GTTGCCAAACTTTTCCAGGACTCGAGTCTG c.840
E Q Y V L A I M N I | V A K L F Q D S S L p.280
. . . . . | 08 . g.18578
GGAAGCACCGTTAACATCCTCGTAACTCGCCTCATCCTGCTCACGGAGGACCAG | CCCACT c.900
G S T V N I L V T R L I L L T E D Q | P T p.300
. . . . . . g.18638
CTGGAGATCACCCACCATGCCGGGAAGTCCCTGGACAGCTTCTGTAAGTGGCAGAAATCC c.960
L E I T H H A G K S L D S F C K W Q K S p.320
. . . . . . g.18698
ATCGTGAACCACAGCGGCCATGGCAATGCCATTCCAGAGAACGGTGTGGCTAACCATGAC c.1020
I V N H S G H G N A I P E N G V A N H D p.340
. . | 09 . . . . g.19159
ACAGCAGTGCTCATCACACG | CTATGACATCTGCATCTACAAGAACAAACCCTGCGGCACA c.1080
T A V L I T R | Y D I C I Y K N K P C G T p.360
| 10 . . . . . . g.19348
CTAG | GCCTGGCCCCGGTGGGCGGAATGTGTGAGCGCGAGAGAAGCTGCAGCGTCAATGAG c.1140
L G | L A P V G G M C E R E R S C S V N E p.380
. . . . . | 11 . g.19495
GACATTGGCCTGGCCACAGCGTTCACCATTGCCCACGAGATCGGGCACAC | ATTCGGCATG c.1200
D I G L A T A F T I A H E I G H T | F G M p.400
. . . . . . g.19555
AACCATGACGGCGTGGGAAACAGCTGTGGGGCCCGTGGTCAGGACCCAGCCAAGCTCATG c.1260
N H D G V G N S C G A R G Q D P A K L M p.420
. . . . . . g.19615
GCTGCCCACATTACCATGAAGACCAACCCATTCGTGTGGTCATCCTGCAGCCGTGACTAC c.1320
A A H I T M K T N P F V W S S C S R D Y p.440
. | 12. . . . . g.19844
ATCACCAGCTTTCTAGA | CTCGGGCCTGGGGCTCTGCCTGAACAACCGGCCCCCCAGACAG c.1380
I T S F L D | S G L G L C L N N R P P R Q p.460
. . . . . . g.19904
GACTTTGTGTACCCGACAGTGGCACCGGGCCAAGCCTACGATGCAGATGAGCAATGCCGC c.1440
D F V Y P T V A P G Q A Y D A D E Q C R p.480
. . . | 13 . . g.22855
TTTCAGCATGGAGTCAAATCGCGTCAGTGTAAATACGGG | GAGGTCTGCAGCGAGCTGTGG c.1500
F Q H G V K S R Q C K Y G | E V C S E L W p.500
. . . . . . g.22915
TGTCTGAGCAAGAGCAACCGGTGCATCACCAACAGCATCCCGGCCGCCGAGGGCACGCTG c.1560
C L S K S N R C I T N S I P A A E G T L p.520
. . | 14. . . . g.23634
TGCCAGACGCACACCATCGACAAGGGG | TGGTGCTACAAACGGGTCTGTGTCCCCTTTGGG c.1620
C Q T H T I D K G | W C Y K R V C V P F G p.540
. . . . . . g.23694
TCGCGCCCAGAGGGTGTGGACGGAGCCTGGGGGCCGTGGACTCCATGGGGCGACTGCAGC c.1680
S R P E G V D G A W G P W T P W G D C S p.560
. . . . . | 15 . g.23848
CGGACCTGTGGCGGCGGCGTGTCCTCTTCTAGCCGTCACTGCGACAGCCCCAG | GCCAACC c.1740
R T C G G G V S S S S R H C D S P R | P T p.580
. . . . . | 16. g.25716
ATCGGGGGCAAGTACTGTCTGGGTGAGAGAAGGCGGCACCGCTCCTGCAACACGGAT | GAC c.1800
I G G K Y C L G E R R R H R S C N T D | D p.600
. . . . . . g.25776
TGTCCCCCTGGCTCCCAGGACTTCAGAGAAGTGCAGTGTTCTGAATTTGACAGCATCCCT c.1860
C P P G S Q D F R E V Q C S E F D S I P p.620
. . . . | 17 . . g.26139
TTCCGTGGGAAATTCTACAAGTGGAAAACGTACCGGGGAG | GGGGCGTGAAGGCCTGCTCG c.1920
F R G K F Y K W K T Y R G G | G V K A C S p.640
. . . . . . g.26199
CTCACGTGCCTAGCGGAAGGCTTCAACTTCTACACGGAGAGGGCGGCAGCCGTGGTGGAC c.1980
L T C L A E G F N F Y T E R A A A V V D p.660
. . . . . | 18 . g.26345
GGGACACCCTGCCGTCCAGACACGGTGGACATTTGCGTCAGTGGCGAATGCAAG | CACGTG c.2040
G T P C R P D T V D I C V S G E C K | H V p.680
. . . . . . g.26405
GGCTGCGACCGAGTCCTGGGCTCCGACCTGCGGGAGGACAAGTGCCGAGTGTGTGGCGGT c.2100
G C D R V L G S D L R E D K C R V C G G p.700
. . . . . | 19 g.28810
GACGGCAGTGCCTGCGAGACCATCGAGGGCGTCTTCAGCCCAGCCTCACCTGGGGCCG | GG c.2160
D G S A C E T I E G V F S P A S P G A G | p.720
. . . . . . g.28870
TACGAGGATGTCGTCTGGATTCCCAAAGGCTCCGTCCACATCTTCATCCAGGATCTGAAC c.2220
Y E D V V W I P K G S V H I F I Q D L N p.740
. | 20 . . . . g.29024
CTCTCTCTCAGTCACTTGG | CCCTGAAGGGAGACCAGGAGTCCCTGCTGCTGGAGGGGCTG c.2280
L S L S H L A | L K G D Q E S L L L E G L p.760
. . . . . . g.29084
CCTGGGACCCCCCAGCCCCACCGTCTGCCTCTAGCTGGGACCACCTTTCAACTGCGACAG c.2340
P G T P Q P H R L P L A G T T F Q L R Q p.780
. . . . . . g.29144
GGGCCAGACCAGGTCCAGAGCCTCGAAGCCCTGGGACCGATTAATGCATCTCTCATCGTC c.2400
G P D Q V Q S L E A L G P I N A S L I V p.800
| 21 . . . . . . g.29291
ATG | GTGCTGGCCCGGACCGAGCTGCCTGCCCTCCGCTACCGCTTCAATGCCCCCATCGCC c.2460
M | V L A R T E L P A L R Y R F N A P I A p.820
. . . . . . g.29351
CGTGACTCGCTGCCCCCCTACTCCTGGCACTATGCGCCCTGGACCAAGTGCTCGGCCCAG c.2520
R D S L P P Y S W H Y A P W T K C S A Q p.840
. | 22 . . . . . g.29503
TGTGCAGGCG | GTAGCCAGGTGCAGGCGGTGGAGTGCCGCAACCAGCTGGACAGCTCCGCG c.2580
C A G G | S Q V Q A V E C R N Q L D S S A p.860
. . . . . . g.29563
GTCGCCCCCCACTACTGCAGTGCCCACAGCAAGCTGCCCAAAAGGCAGCGCGCCTGCAAC c.2640
V A P H Y C S A H S K L P K R Q R A C N p.880
. . | 23 . . . . g.30084
ACGGAGCCTTGCCCTCCAGA | CTGGGTTGTAGGGAACTGGTCGCTCTGCAGCCGCAGCTGC c.2700
T E P C P P D | W V V G N W S L C S R S C p.900
. . . . . . g.30144
GATGCAGGCGTGCGCAGCCGCTCGGTCGTGTGCCAGCGCCGCGTCTCTGCCGCGGAGGAG c.2760
D A G V R S R S V V C Q R R V S A A E E p.920
. . . . . . g.30204
AAGGCGCTGGACGACAGCGCATGCCCGCAGCCGCGCCCACCTGTACTGGAGGCCTGCCAC c.2820
K A L D D S A C P Q P R P P V L E A C H p.940
. . . . | 24 . . g.30411
GGCCCCACTTGCCCTCCGGAGTGGGCGGCCCTCGACTGGTCTGAG | TGCACCCCCAGCTGC c.2880
G P T C P P E W A A L D W S E | C T P S C p.960
. . . . . . g.30471
GGGCCGGGCCTCCGCCACCGCGTGGTCCTTTGCAAGAGCGCAGACCACCGCGCCACGCTG c.2940
G P G L R H R V V L C K S A D H R A T L p.980
. . . . . . g.30531
CCCCCGGCGCACTGCTCACCCGCCGCCAAGCCACCGGCCACCATGCGCTGCAACTTGCGC c.3000
P P A H C S P A A K P P A T M R C N L R p.1000
. . . . | 25 . . g.30668
CGCTGCCCCCCGGCCCGCTGGGTGGCTGGCGAGTGGGGTGAG | TGCTCTGCACAGTGCGGC c.3060
R C P P A R W V A G E W G E | C S A Q C G p.1020
. . . . . . g.30728
GTCGGGCAGCGGCAGCGCTCGGTGCGCTGCACCAGCCACACGGGCCAGGCGTCGCACGAG c.3120
V G Q R Q R S V R C T S H T G Q A S H E p.1040
. . . . . . g.30788
TGCACGGAGGCCCTGCGGCCGCCCACCACGCAGCAGTGTGAGGCCAAGTGCGACAGCCCA c.3180
C T E A L R P P T T Q Q C E A K C D S P p.1060
. . | 26 . . . . g.34740
ACCCCCGGGGACGGCCCTGAAG | AGTGCAAGGATGTGAACAAGGTCGCCTACTGCCCCCTG c.3240
T P G D G P E E | C K D V N K V A Y C P L p.1080
. . . . . . g.34800
GTGCTCAAATTTCAGTTCTGCAGCCGAGCCTACTTCCGCCAGATGTGCTGCAAAACCTGC c.3300
V L K F Q F C S R A Y F R Q M C C K T C p.1100
. g.34812
CATGGCCACTAG c.3312
H G H X p.1103
. . . . . . g.34872
ggggcgcgcggcacccggagccacagctggcggggtctccgccgccagccctgcagcggg c.*60
. . . . . . g.34932
ccggccagagggggccccgggggggcgggaactgggagggaagggtgagacggagccgga c.*120
. . . . . . g.34992
agttatttattgggaacccctgcagggccctggctggggggatggagaggggctggctat c.*180
. . . . . . g.35052
ccccccagagcccctcttcagcatccgccccttccagttcacatagtgagaccccccctc c.*240
. . . . . . g.35112
cagggtgggtctggggaggggacagctgttcaccccagcaccctttgaacccacccttag c.*300
. . . . . . g.35172
ggagtccccaacactccccccctcctttgatcggaatatgtactgtgaagagtaggggtg c.*360
. . . . . . g.35232
gggaggtggtctgccggtgccctgccccccagcactgccctacccctccactccgagctg c.*420
. . . . . . g.35292
ggggggaatctgtgtctgctatgggaggggggggggtagcaccacctccctgacaccctc c.*480
. . . . . . g.35352
ccctgacctgactagggggaggatccaccccaacctctgccctgcccgccccaggggcac c.*540
. . . . . . g.35412
cccgacatccaggccaccccctcatggtgctacagaccctgccctggggcccacacactc c.*600
. . . . . g.35463
ctgccaggaagccctacatcaataaagttctgtcttgtgtagatttctacg c.*651
(downstream sequence)
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