(used for variant description)
(last modified July 22, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_002285.2 in the AFF3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_052835.1, covering AFF3 transcript NM_002285.2.
(upstream sequence)
. . . . . g.5064
cgccagcgagaagagagctccacgctcagcctcagaagaaagacgttcaacgactt c.-181
. . . . | 02 . . g.42024
actggggagagaaagaaaaggaacgggagctgagag | ctgatcacctgcctttccagaccg c.-121
. . . . . . | 03 g.43069
gagacgggcggcaagtttgaagtcgacacccagaggccagtttgtcccccttcccg | cgcg c.-61
. . . . . . g.43129
cgggcggcccgagcctcggcggcggcggtagcggcggcggcgacgctgacacctcccacc c.-1
. . . . . | 04 . g.138658
ATGGACAGCTTCGACTTAGCCCTGCTCCAGGAATGGGACCTCGAGTCACTGTG | TGTCTAT c.60
M D S F D L A L L Q E W D L E S L C | V Y p.20
. . . . . . g.138718
GAACCAGATAGAAATGCATTACGGAGGAAAGAACGAGAAAGAAGAAATCAAGAAACTCAA c.120
E P D R N A L R R K E R E R R N Q E T Q p.40
. . . . . | 05 . g.140129
CAGGATGATGGCACGTTTAATTCTAGTTACTCTCTCTTCAGTGAGCCCTACAAG | ACTAAC c.180
Q D D G T F N S S Y S L F S E P Y K | T N p.60
. . . . . . g.140189
AAGGGGGATGAACTCTCCAACCGGATCCAGAACACTTTAGGCAATTATGATGAAATGAAA c.240
K G D E L S N R I Q N T L G N Y D E M K p.80
. . . . . . g.140249
GACTTTTTAACTGATAGATCCAATCAGAGTCATCTCGTTGGAGTTCCCAAACCTGGGGTT c.300
D F L T D R S N Q S H L V G V P K P G V p.100
. . . . . . g.140309
CCTCAGACTCCTGTGAACAAGATCGATGAACATTTTGTTGCAGATTCAAGAGCCCAGAAC c.360
P Q T P V N K I D E H F V A D S R A Q N p.120
. . . . . . g.140369
CAGCCCTCGTCTATCTGTAGCACTACAACTTCCACACCAGCAGCTGTCCCCGTGCAGCAG c.420
Q P S S I C S T T T S T P A A V P V Q Q p.140
. . . . . . g.140429
AGTAAGAGAGGCACTATGGGCTGGCAGAAGGCTGGGCACCCACCCTCTGACGGCCAACAG c.480
S K R G T M G W Q K A G H P P S D G Q Q p.160
| 06. . . . . . g.140619
AGAGCAA | CACAACAGGGCTCTCTCAGGACCTTGCTTGGAGATGGTGTTGGCAGACAGCAG c.540
R A T | Q Q G S L R T L L G D G V G R Q Q p.180
. . . . . . g.140679
CCTCGGGCCAAACAAGTGTGCAATGTGGAGGTGGGCCTTCAGACCCAGGAGAGGCCACCT c.600
P R A K Q V C N V E V G L Q T Q E R P P p.200
. . . . . . g.140739
GCCATGGCGGCCAAGCACAGCAGCAGCGGACACTGTGTTCAGAACTTTCCTCCATCCCTA c.660
A M A A K H S S S G H C V Q N F P P S L p.220
. . . . . . g.140799
GCTTCAAAACCCAGCCTGGTCCAGCAGAAACCGACCGCGTATGTGAGGCCAATGGACGGC c.720
A S K P S L V Q Q K P T A Y V R P M D G p.240
. . . . . . g.140859
CAAGATCAGGCCCCTGATGAGTCTCCTAAGCTGAAGTCGTCTTCGGAAACCAGCGTGCAC c.780
Q D Q A P D E S P K L K S S S E T S V H p.260
. . . . . . g.140919
TGCACATCATACAGGGGAGTCCCTGCCAGCAAGCCGGAGCCTGCCAGAGCCAAGGCCAAG c.840
C T S Y R G V P A S K P E P A R A K A K p.280
. . . | 07 . . . g.310086
CTCTCCAAGTTCAGCATCCCCAAGCAGGGGGAG | GAGAGTAGATCTGGAGAAACCAACAGC c.900
L S K F S I P K Q G E | E S R S G E T N S p.300
. . | 08 . . . . g.395321
TGTGTTGAAGAAATAATCCGG | GAGATGACCTGGCTTCCACCACTTTCTGCTATTCAAGCA c.960
C V E E I I R | E M T W L P P L S A I Q A p.320
. . . . | 09 . . g.403461
CCTGGCAAAGTGGAACCAACCAAATTTCCATTTCCAAATAAG | GACTCTCAGCTTGTATCC c.1020
P G K V E P T K F P F P N K | D S Q L V S p.340
. | 10 . . . . g.420496
TCTGGACACAATAATCCAA | AGAAAGGTGATGCAGAGCCAGAGAGTCCAGACAATGGCACA c.1080
S G H N N P K | K G D A E P E S P D N G T p.360
. | 11 . . . . . g.475043
TCGAATACATC | AATGCTGGAAGATGACCTTAAGCTAAGCAGTGATGAAGAGGAGAATGAA c.1140
S N T S | M L E D D L K L S S D E E E N E p.380
| 12 . . . . | 13 . . g.545978
CAG | CAGGCAGCTCAGAGAACGGCTCTCCGCGCTCTCTCTGACAG | CGCCGTGGTCCAGCAG c.1200
Q | Q A A Q R T A L R A L S D S | A V V Q Q p.400
. . . . . . g.546038
CCCAACTGCAGAACCTCGGTGCCTTCCAGCAAGGGCAGCAGCAGCAGCAGCAGCAGCGGC c.1260
P N C R T S V P S S K G S S S S S S S G p.420
. . . . . . g.546098
AGCAGCAGCTCCTCCAGCGACTCAGAGAGCAGCTCCGGATCTGACTCGGAGACCGAGAGC c.1320
S S S S S S D S E S S S G S D S E T E S p.440
. . . . . | 14 . g.553303
AGCTCCAGCGAGAGTGAGGGCAGCAAGCCCCCCCACTTCTCCAGCCCCGAG | GCTGAACCG c.1380
S S S E S E G S K P P H F S S P E | A E P p.460
. . . . . . g.553363
GCATCCTCTAACAAGTGGCAGCTGGATAAATGGCTAAACAAAGTTAATCCCCACAAGCCT c.1440
A S S N K W Q L D K W L N K V N P H K P p.480
. . . . . . g.553423
CCTATTCTGATCCAAAATGAAAGCCACGGGTCAGAGAGCAATCAGTACTACAACCCGGTG c.1500
P I L I Q N E S H G S E S N Q Y Y N P V p.500
. . . . . . g.553483
AAAGAGGACGTCCAGGACTGTGGGAAAGTCCCCGACGTTTGCCAGCCCAGCCTGAGAGAG c.1560
K E D V Q D C G K V P D V C Q P S L R E p.520
. . . . . . g.553543
AAGGAGATCAAGAGCACTTGCAAGGAGGAGCAAAGGCCAAGGACAGCCAACAAGGCCCCT c.1620
K E I K S T C K E E Q R P R T A N K A P p.540
. . . . . . g.553603
GGGAGTAAAGGCGTGAAGCAGAAGTCCCCGCCCGCGGCCGTGGCCGTGGCGGTGAGCGCA c.1680
G S K G V K Q K S P P A A V A V A V S A p.560
. . . . . . g.553663
GCCGCCCCGCCACCCGCAGTGCCCTGTGCGCCCGCGGAGAACGCGCCCGCGCCTGCCCGG c.1740
A A P P P A V P C A P A E N A P A P A R p.580
. . . . . . g.553723
AGGTCCGCGGGCAAGAAGCCCACCAGGCGCACCGAGAGGACCTCAGCCGGGGACGGCGCC c.1800
R S A G K K P T R R T E R T S A G D G A p.600
. . . . . . g.553783
AACTGCCACCGGCCCGAGGAGCCCGCGGCCGCGGACGCGCTGGGGACGAGCGTGGTGGTC c.1860
N C H R P E E P A A A D A L G T S V V V p.620
. . . . . . g.553843
CCCCCGGAGCCCACCAAAACCAGGCCCTGTGGCAACAACAGAGCGAGCCACCGCAAGGAG c.1920
P P E P T K T R P C G N N R A S H R K E p.640
. . . . . . g.553903
CTGCGCTCCTCCGTGACCTGCGAGAAGCGCCGCACGCGGGGGCTAAGCAGGATCGTCCCC c.1980
L R S S V T C E K R R T R G L S R I V P p.660
. . . . . . g.553963
AAATCCAAGGAGTTCATTGAGACAGAGTCGTCATCTTCATCCTCCTCCTCGGACTCCGAC c.2040
K S K E F I E T E S S S S S S S S D S D p.680
. . . . . . g.554023
CTGGAGTCCGAGCAGGAGGAGTACCCTCTGTCCAAAGCACAGACCGTGGCTGCCTCTGCC c.2100
L E S E Q E E Y P L S K A Q T V A A S A p.700
. . . . . . g.554083
TCCTCCGGGAATGATCAGAGGCTGAAGGAGGCCGCTGCCAACGGGGGCAGTGGTCCTAGG c.2160
S S G N D Q R L K E A A A N G G S G P R p.720
. . . . . . g.554143
GCCCCTGTAGGCTCCATCAACGCCAGGACCACCAGTGACATCGCCAAGGAGCTGGAGGAG c.2220
A P V G S I N A R T T S D I A K E L E E p.740
. . . . . . g.554203
CAGTTCTACACACTGGTCCCCTTTGGCCGGAACGAACTTCTCTCCCCTCTAAAGGACAGT c.2280
Q F Y T L V P F G R N E L L S P L K D S p.760
. . . . . . g.554263
GATGAGATCAGGTCTCTCTGGGTCAAAATCGACCTGACCCTCCTGTCCAGGATCCCAGAA c.2340
D E I R S L W V K I D L T L L S R I P E p.780
. . . . . . g.554323
CACCTGCCCCAGGAGCCAGGGGTATTGAGCGCCCCTGCCACCAAGGACTCTGAGAGCGCA c.2400
H L P Q E P G V L S A P A T K D S E S A p.800
. . . . . . g.554383
CCGCCCAGCCACACCTCGGACACACCTGCAGAAAAGGCTTTGCCAAAATCCAAGAGGAAA c.2460
P P S H T S D T P A E K A L P K S K R K p.820
| 15 . . . . . . g.560359
CGCAAG | TGTGACAACGAAGACGACTACAGGGAGATCAAGAAGTCCCAGGGAGAGAAAGAC c.2520
R K | C D N E D D Y R E I K K S Q G E K D p.840
. . . . . . g.560419
AGCTCTTCAAGACTGGCCACCTCCACCAGTAATACTTTGTCTGCAAACCACTGCAACATG c.2580
S S S R L A T S T S N T L S A N H C N M p.860
. | 16 . . . . . g.564633
AACATCAACAG | TGTGGCAATACCAATAAATAAAAATGAAAAAATGCTTCGGTCGCCCATC c.2640
N I N S | V A I P I N K N E K M L R S P I p.880
. . . . . . g.564693
TCACCCCTCTCTGATGCATCTAAACACAAATACACCAGCGAGGACTTAACTTCTTCCAGC c.2700
S P L S D A S K H K Y T S E D L T S S S p.900
. . . . . . g.564753
CGACCTAATGGCAACAGTTTGTTTACTTCAGCCTCTTCCAGCAAAAAGCCTAAGGCCGAC c.2760
R P N G N S L F T S A S S S K K P K A D p.920
. . . | 17 . . . g.569159
AGCCAGCTGCAGCCTCACGGCGGAGACCTCACG | AAAGCAGCTCACAACAATTCTGAAAAC c.2820
S Q L Q P H G G D L T | K A A H N N S E N p.940
. . . . . . g.569219
ATTCCCCTCCACAAGTCACGGCCGCAGACGAAGCCGTGGTCTCCAGGCTCCAACGGCCAC c.2880
I P L H K S R P Q T K P W S P G S N G H p.960
. . . | 18 . . g.578690
AGGGACTGCAAGAGGCAGAAACTTGTCTTCGATGATAT | GCCTCGCAGTGCCGATTATTTT c.2940
R D C K R Q K L V F D D M | P R S A D Y F p.980
. . . . | 19 . . g.581978
ATGCAAGAAGCTAAACGAATGAAGCATAAAGCAGATGCAATG | GTGGAAAAGTTTGGAAAG c.3000
M Q E A K R M K H K A D A M | V E K F G K p.1000
. . . . . . g.582038
GCTTTGAACTATGCTGAAGCAGCATTGTCGTTTATCGAGTGTGGAAATGCAATGGAACAA c.3060
A L N Y A E A A L S F I E C G N A M E Q p.1020
. . . . . | 20 g.587148
GGCCCCATGGAATCCAAATCTCCTTATACGATGTATTCAGAAACAGTAGAGCTCATCAG | G c.3120
G P M E S K S P Y T M Y S E T V E L I R | p.1040
. . . . . . g.587208
TATGCTATGAGACTAAAAACCCACTCAGGCCCCAATGCCACACCAGAAGACAAACAACTG c.3180
Y A M R L K T H S G P N A T P E D K Q L p.1060
. | 21 . . . . . g.588664
GCTGCATTATG | TTACCGATGCCTGGCCCTCCTGTACTGGCGGATGTTTCGACTCAAAAGG c.3240
A A L C | Y R C L A L L Y W R M F R L K R p.1080
. . . . | 22 . . g.592866
GACCACGCTGTAAAGTATTCAAAAGCACTAATCGACTATTTCAAG | AACTCATCTAAAGCC c.3300
D H A V K Y S K A L I D Y F K | N S S K A p.1100
. . . | 23 . . . g.593074
GCCCAAGCCCCATCTCCGTGGGGGGCCAGTGGAAA | GAGCACTGGAACCCCATCCCCCATG c.3360
A Q A P S P W G A S G K | S T G T P S P M p.1120
. . . . . . g.593134
TCTCCCAACCCCTCTCCCGCCAGCTCCGTGGGGTCTCAGGGCAGCCTCTCCAACGCCAGC c.3420
S P N P S P A S S V G S Q G S L S N A S p.1140
. . . . . . g.593194
GCCCTGTCCCCGTCGACCATCGTCAGCATCCCACAGCGCATCCACCAGATGGCGGCCAAC c.3480
A L S P S T I V S I P Q R I H Q M A A N p.1160
. . . . . . g.593254
CACGTCAGCATCACCAACAGCATCCTGCACAGCTACGACTACTGGGAGATGGCCGACAAC c.3540
H V S I T N S I L H S Y D Y W E M A D N p.1180
. | 24 . . . . g.596029
CTGGCCAAGGAAAACCGAG | AATTCTTCAACGACCTGGATCTGCTCATGGGGCCGGTCACC c.3600
L A K E N R E | F F N D L D L L M G P V T p.1200
. . . . . . g.596089
CTGCACAGCAGCATGGAGCACCTGGTCCAGTACTCCCAACAGGGCCTGCACTGGCTGCGG c.3660
L H S S M E H L V Q Y S Q Q G L H W L R p.1220
. . g.596110
AACAGCGCCCACCTGTCATAG c.3681
N S A H L S X p.1226
. . . . . . g.596170
ggacctcaccctggggccagagtgggctctggtctccacagatggctcaacgtttttgga c.*60
. . . . . . g.596230
cactgtgctactgaaactcccagccacagcatttatcagactgcggtgaacatttcctca c.*120
. . . . . . g.596290
gcattgaacaatgatcttttgcagggcatgtgtgtttgtatgtgtgggtatataagaagc c.*180
. . . . . . g.596350
cgcctgtgtatgtgtgtaagatacacagctcttcagaacacaccttctttgtctagtttc c.*240
. . . . . . g.596410
cataatcccaggctagacaaagtgatcagaggtttctgactagaggaagtacacacacac c.*300
. . . . . . g.596470
acacacacacacacacacaccgtacactcacacacaatcacagacacacactttctattc c.*360
. . . . . . g.596530
cattccagtgctaaaccgtgacttcttagaaaattcaaccaaaatctcatgggttagtta c.*420
. . . . . . g.596590
accaggtgcaatacagcacaccaaaagcttgactgccagtgaagatggacctgctcttat c.*480
. . . . . . g.596650
actgttgattactttcagtattaatatactattccccaattattttttgattggtatgta c.*540
. . . . . . g.596710
ttaatgggtaattgaataatgaaaataagccaggtatttttgtgccggaagtttactaga c.*600
. . . . . . g.596770
ttgcatgttaccaaataccctgctcttcctctaattcccttcccccatctgactctatta c.*660
. . . . . . g.596830
tcaactaaatgcattccaggcaaacagatggacactcacagcccttcccagccccacctc c.*720
. . . . . . g.596890
caagtagtatgcaaatggcactgagatttagcaaaaacgcggcgtctttgaaagttaaca c.*780
. . . . . . g.596950
gacactaaggtagcagtgcctgtgtgttggagctcagttaggagttgaagttttctgcac c.*840
. . . . . . g.597010
ctgtgataacaagcccaccagccacatgcatttcttcttcctgccactgtgactcggtgg c.*900
. . . . . . g.597070
ctgtagagccacatggcatttgtcagccaatctgtttcaagtcttttctttccaccaata c.*960
. . . . . . g.597130
gctttcttacagattttcttggctaaatgaggccattacctagattgtcccttcagtagg c.*1020
. . . . . . g.597190
agcctgaatccttcgcttaccaggctgagagctatttgccatgataatgctgattctctc c.*1080
. . . . . . g.597250
actcctcatgcagaatgtgcacctgcagccctttgatgcgttttgatttgggggcgattt c.*1140
. . . . . . g.597310
ttcaggctttgattagcaggctgcttgcaatgcagaagatcacagttcctttctggggca c.*1200
. . . . . . g.597370
gcagcaaccagagcctcttcctgtgtcctgtgtgtctggtatgtttacaccttgctctga c.*1260
. . . . . . g.597430
gtttttctcttgttttctttttttaattaagtttacattttagtttctttgacatcttgt c.*1320
. . . . . . g.597490
ttacagtttttgtctgatgttttttcttttgtagtgtcttatgccctagatttagtcatc c.*1380
. . . . . . g.597550
ttgttaaatatatttggatatgaaatcttgacgaaaagaaaataactcctgaaaaagagg c.*1440
. . . . . . g.597610
gtctatcttgccacacgttaaaaacaaaaataatgtccttgtggcctcttacttgataaa c.*1500
. . . . . . g.597670
gttgcaccaggacggtctgagaaaggcaggcggtgtaatatgtggtgcaatccatttttt c.*1560
. . . . . . g.597730
caaggtgatgacggcacaaaatacttagactagatgctgatccataaacattcactgata c.*1620
. . . . . . g.597790
ttcttacaggttggtttgcagtgttaacatttttgttagcctgatctgtaggtgggaagt c.*1680
. . . . . . g.597850
aagatcatcataattccttagctctgagcactgattcaaaattgtataaatgactgaaca c.*1740
. . . . . . g.597910
acttagatgatttgaaattaattgaaaataagaagggcttgtggaatttgcatttggctt c.*1800
. . . . . . g.597970
tggccttcaagcatttggaaatattaagagaatttccattttacatgtctccaactgggg c.*1860
. . . . . . g.598030
tgcttcttacaaccctttcactttttttttgagacgagtttcgctctgttgcccaggctg c.*1920
. . . . . . g.598090
gagtgcagtggcacgatctcggctcactgcatcctctgcctcctgggttcaagtgattgt c.*1980
. . . . . . g.598150
cccgcctcagcctcccaagtagctgggattacaggtgtgcactaccatgcccagctaatt c.*2040
. . . . . . g.598210
tttgtgtttttagtagagactgggtttcaccatgttggccaggctcgtctcaaactcctg c.*2100
. . . . . . g.598270
acctcaggtgatctacccgcctccacctcccaaagtgttgtgattacaggcgtgagccac c.*2160
. . . . . . g.598330
cacacccagccctttcactaatttttggcagagttcacaatcccatcctatgtcagaaac c.*2220
. . . . . . g.598390
ttgaacctaacttaagaaattttgagtcatttttttggaggactgaggctttgttctacc c.*2280
. . . . . . g.598450
tactcttgaagaatcctgatgaaatattcaaacacataaagggatggccctggaggtcta c.*2340
. . . . . . g.598510
tcctgcatacctggagagcttctctggtcctgcccaccttgaaagttgcagactttgttg c.*2400
. . . . . . g.598570
taacatctatgtgatgagcttccctgtgaagccccatttgacaggtgggccagcagtgtt c.*2460
. . . . . . g.598630
ttatcagcactctgatggcccacatttcccaggaaaacttcttgaaacttaccgttgtgg c.*2520
. . . . . . g.598690
gcagtggtcagagcgtgtagttcttatgactgtcttgtttcatctgtggagcacgtgtgg c.*2580
. . . . . . g.598750
agcacgttggtacagcagtttctgtggggtttggcatgggtgattttggttagtaaccat c.*2640
. . . . . . g.598810
cctccaattgttgcttgtgaaagtcattcataacttgttccttttacttagttttgttgt c.*2700
. . . . . . g.598870
tactgctgttgttgttggtttggttggttttgagaccgggtctggctctgtagcccaagc c.*2760
. . . . . . g.598930
tggaatgcggtggcgcgatcatggctccctgcagcctcaaactcctgggctcaagcaatc c.*2820
. . . . . . g.598990
ctcctgcctcagcctcccaagcagctgggaagataggcacgtgccaccacacccggctaa c.*2880
. . . . . . g.599050
ttttttctttattttttttgtagagatgggggtctcactatgttgcccaggctggtctca c.*2940
. . . . . . g.599110
aactcctgggctcaagcgatcctttggcctcggcctcccaaagtgcatgagccaccatgc c.*3000
. . . . . . g.599170
ctggcctgtttagttttgtttcaagttgaaatacctttcttgtgttttctaattagaaaa c.*3060
. . . . . . g.599230
gtaatatctactcattgtaaaaactcaaacagtgcagaaatgtagaaagtagaaagtgta c.*3120
. . . . . . g.599290
agtccctggttgtcccttctgcctgagacaaccactgctcacagtttgatgtatatcctt c.*3180
. . . . . . g.599350
ccagagactctcaaatttaagcaaataatttttattaccatgtctttttatttgaagacg c.*3240
. . . . . . g.599410
tacatttgcctccaaagttcaacacaagttcaactgaccatatccttccatgacctgaat c.*3300
. . . . . . g.599470
agatgctatcctttatcacgatgttcaattgcctttgaaagagagtagtccaggtatatt c.*3360
. . . . . . g.599530
cctgatcaaaatttggcatttttgatgatactactctacacagatcagactcatgtgcag c.*3420
. . . . . . g.599590
aatcgtgcctggagagagaggtttggttaagacagagatttctggaaacattcaaattgc c.*3480
. . . . . . g.599650
aaatggaaacttgaaacccacaatctaatgaggaatgtactggaaaaataatctgaagag c.*3540
. . . . . . g.599710
ttgacaaattgtgtactagattgaacacatggaatgcaatgcaatgagactttctgcact c.*3600
. . . . . . g.599770
aaaacttatcctcatatgtacaacaatgatgtgtgtattatataacagtgatgtgtacat c.*3660
. . . . . . g.599830
ttctgacaccccatacataatatacacagtttgtataaatgcatacatttaaaaatatat c.*3720
. . . . . . g.599890
atgtacaatacagctaacataaaactgtagtacgcctgaaggatattactagtgcctaat c.*3780
. . . . . . g.599950
attgagtatgagtcactgcgtgttcgcatcaacttggaagtgcagtaattgttataaaat c.*3840
. . . . . . g.600010
taatcagtgcagccaacattatttatgaatcacatctttgaaactgtgcagtagcatata c.*3900
. . . . . . g.600070
catatatatttttaaataacatttttcacagttttccagagttactgttgaaatctgcat c.*3960
. . . . . . g.600130
caccaaaaaaaaaaaaaagcaagatttttttaacaatgtagacactcttcagacccagta c.*4020
. . . . . . g.600190
atctgcgtgtgatttcctatttgtagattcccaagagactttagcagtcaccagccttaa c.*4080
. . . . . . g.600250
tgcatgtacaggatattattgtgacttaatttatctgcagtttttaatccatgtgaaatt c.*4140
. . . . . . g.600310
ggaatttataaacggacttggattaaacatgtctgcctttctaaggttgcaaatgttaca c.*4200
. . g.600331
ttaaatgatttatgttgtaaa c.*4221
(downstream sequence)
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