(used for variant description)
(last modified July 6, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_006290.3 in the TNFAIP3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032761.1, covering TNFAIP3 transcript NM_006290.3.
(upstream sequence)
. . g.4766
ctttggaaagtcccgtggaaat c.-301
. . . . . . g.4826
ccccgggcctacaacccgcatacaactgaaacggggcaaagcagactgcgcagtctgcag c.-241
. . . . . . g.4886
tcttcgtggcgggccaagcgagcttggagcccgcgggggcggagcggtgagagcggccgc c.-181
. . . . . . g.4946
caagagagatcacacccccagccgaccctgccagcgagcgagcccgaccccaggcgtcca c.-121
. . . . . . g.5006
tggagcgtcgcctccgcccggtccctgccccgacccccgcctgcggcgcgctcctgcctt c.-61
. . . . . | 02 . g.8784
gaccaggacttgggactttgcgaaaggatcgcggggcccggagag | gtgttggagagcaca c.-1
. . . . . . g.8844
ATGGCTGAACAAGTCCTTCCTCAGGCTTTGTATTTGAGCAATATGCGGAAAGCTGTGAAG c.60
M A E Q V L P Q A L Y L S N M R K A V K p.20
. . . . . . g.8904
ATACGGGAGAGAACTCCAGAAGACATTTTTAAACCTACTAATGGGATCATTCATCATTTT c.120
I R E R T P E D I F K P T N G I I H H F p.40
. . . . . . g.8964
AAAACCATGCACCGATACACACTGGAAATGTTCAGAACTTGCCAGTTTTGTCCTCAGTTT c.180
K T M H R Y T L E M F R T C Q F C P Q F p.60
. . . . . . g.9024
CGGGAGATCATCCACAAAGCCCTCATCGACAGAAACATCCAGGCCACCCTGGAAAGCCAG c.240
R E I I H K A L I D R N I Q A T L E S Q p.80
. . . . . | 03 . g.12406
AAGAAACTCAACTGGTGTCGAGAAGTCCGGAAGCTTGTGGCGCTGAAAACGAACG | GTGAC c.300
K K L N W C R E V R K L V A L K T N G | D p.100
. . . . . . g.12466
GGCAATTGCCTCATGCATGCCACTTCTCAGTACATGTGGGGCGTTCAGGACACAGACTTG c.360
G N C L M H A T S Q Y M W G V Q D T D L p.120
. . . . . . g.12526
GTACTGAGGAAGGCGCTGTTCAGCACGCTCAAGGAAACAGACACACGCAACTTTAAATTC c.420
V L R K A L F S T L K E T D T R N F K F p.140
. . . . . . g.12586
CGCTGGCAACTGGAGTCTCTCAAATCTCAGGAATTTGTTGAAACGGGGCTTTGCTATGAT c.480
R W Q L E S L K S Q E F V E T G L C Y D p.160
| 04 . . . . . . g.13298
ACTCGG | AACTGGAATGATGAATGGGACAATCTTATCAAAATGGCTTCCACAGACACACCC c.540
T R | N W N D E W D N L I K M A S T D T P p.180
. . . . . . g.13358
ATGGCCCGAAGTGGACTTCAGTACAACTCACTGGAAGAAATACACATATTTGTCCTTTGC c.600
M A R S G L Q Y N S L E E I H I F V L C p.200
. . . | 05 . . . g.13578
AACATCCTCAGAAGGCCAATCATTGTCATTTCAG | ACAAAATGCTAAGAAGTTTGGAATCA c.660
N I L R R P I I V I S D | K M L R S L E S p.220
. . . . . . g.13638
GGTTCCAATTTCGCCCCTTTGAAAGTGGGTGGAATTTACTTGCCTCTCCACTGGCCTGCC c.720
G S N F A P L K V G G I Y L P L H W P A p.240
. . . . . . g.13698
CAGGAATGCTACAGATACCCCATTGTTCTCGGCTATGACAGCCATCATTTTGTACCCTTG c.780
Q E C Y R Y P I V L G Y D S H H F V P L p.260
. . | 06 . . . . g.14667
GTGACCCTGAAGGACAGTGGGCCTG | AAATCCGAGCTGTTCCACTTGTTAACAGAGACCGG c.840
V T L K D S G P E | I R A V P L V N R D R p.280
. . . . . . g.14727
GGAAGATTTGAAGACTTAAAAGTTCACTTTTTGACAGATCCTGAAAATGAGATGAAGGAG c.900
G R F E D L K V H F L T D P E N E M K E p.300
. . . . . . g.14787
AAGCTCTTAAAAGAGTACTTAATGGTGATAGAAATCCCCGTCCAAGGCTGGGACCATGGC c.960
K L L K E Y L M V I E I P V Q G W D H G p.320
. . | 07 . . . . g.16022
ACAACTCATCTCATCAATGCCGCAAA | GTTGGATGAAGCTAACTTACCAAAAGAAATCAAT c.1020
T T H L I N A A K | L D E A N L P K E I N p.340
. . . . . . g.16082
CTGGTAGATGATTACTTTGAACTTGTTCAGCATGAGTACAAGAAATGGCAGGAAAACAGC c.1080
L V D D Y F E L V Q H E Y K K W Q E N S p.360
. . . . . . g.16142
GAGCAGGGGAGGAGAGAGGGGCACGCCCAGAATCCCATGGAACCTTCCGTGCCCCAGCTT c.1140
E Q G R R E G H A Q N P M E P S V P Q L p.380
. . . . . . g.16202
TCTCTCATGGATGTAAAATGTGAAACGCCCAACTGCCCCTTCTTCATGTCTGTGAACACC c.1200
S L M D V K C E T P N C P F F M S V N T p.400
. . . . . . g.16262
CAGCCTTTATGCCATGAGTGCTCAGAGAGGCGGCAAAAGAATCAAAACAAACTCCCAAAG c.1260
Q P L C H E C S E R R Q K N Q N K L P K p.420
. . . . . . g.16322
CTGAACTCCAAGCCGGGCCCTGAGGGGCTCCCTGGCATGGCGCTCGGGGCCTCTCGGGGA c.1320
L N S K P G P E G L P G M A L G A S R G p.440
. . . . . . g.16382
GAAGCCTATGAGCCCTTGGCGTGGAACCCTGAGGAGTCCACTGGGGGGCCTCATTCGGCC c.1380
E A Y E P L A W N P E E S T G G P H S A p.460
. . . . . . g.16442
CCACCGACAGCACCCAGCCCTTTTCTGTTCAGTGAGACCACTGCCATGAAGTGCAGGAGC c.1440
P P T A P S P F L F S E T T A M K C R S p.480
. . . . . . g.16502
CCCGGCTGCCCCTTCACACTGAATGTGCAGCACAACGGATTTTGTGAACGTTGCCACAAC c.1500
P G C P F T L N V Q H N G F C E R C H N p.500
. . . . . . g.16562
GCCCGGCAACTTCACGCCAGCCACGCCCCAGACCACACAAGGCACTTGGATCCCGGGAAG c.1560
A R Q L H A S H A P D H T R H L D P G K p.520
. . . . . . g.16622
TGCCAAGCCTGCCTCCAGGATGTTACCAGGACATTTAATGGGATCTGCAGTACTTGCTTC c.1620
C Q A C L Q D V T R T F N G I C S T C F p.540
. . . . . . g.16682
AAAAGGACTACAGCAGAGGCCTCCTCCAGCCTCAGCACCAGCCTCCCTCCTTCCTGTCAC c.1680
K R T T A E A S S S L S T S L P P S C H p.560
. . . . . . g.16742
CAGCGTTCCAAGTCAGATCCCTCGCGGCTCGTCCGGAGCCCCTCCCCGCATTCTTGCCAC c.1740
Q R S K S D P S R L V R S P S P H S C H p.580
. . . . . . g.16802
AGAGCTGGAAACGACGCCCCTGCTGGCTGCCTGTCTCAAGCTGCACGGACTCCTGGGGAC c.1800
R A G N D A P A G C L S Q A A R T P G D p.600
. . . . . . g.16862
AGGACGGGGACGAGCAAGTGCAGAAAAGCCGGCTGCGTGTATTTTGGGACTCCAGAAAAC c.1860
R T G T S K C R K A G C V Y F G T P E N p.620
. . . . | 08 . . g.17641
AAGGGCTTTTGCACACTGTGTTTCATCGAGTACAGAGAAAACAAAC | ATTTTGCTGCTGCC c.1920
K G F C T L C F I E Y R E N K H | F A A A p.640
. . . . . . g.17701
TCAGGGAAAGTCAGTCCCACAGCGTCCAGGTTCCAGAACACCATTCCGTGCCTGGGGAGG c.1980
S G K V S P T A S R F Q N T I P C L G R p.660
. . . . . . g.17761
GAATGCGGCACCCTTGGAAGCACCATGTTTGAAGGATACTGCCAGAAGTGTTTCATTGAA c.2040
E C G T L G S T M F E G Y C Q K C F I E p.680
. . . . | 09 . g.18603
GCTCAGAATCAGAGATTTCATGAGGCCAAAAGGACAGAAGAGCAACTG | AGATCGAGCCAG c.2100
A Q N Q R F H E A K R T E E Q L | R S S Q p.700
. . . . . . g.18663
CGCAGAGATGTGCCTCGAACCACACAAAGCACCTCAAGGCCCAAGTGCGCCCGGGCCTCC c.2160
R R D V P R T T Q S T S R P K C A R A S p.720
. . . . . . g.18723
TGCAAGAACATCCTGGCCTGCCGCAGCGAGGAGCTCTGCATGGAGTGTCAGCATCCCAAC c.2220
C K N I L A C R S E E L C M E C Q H P N p.740
. . . . . . g.18783
CAGAGGATGGGCCCTGGGGCCCACCGGGGTGAGCCTGCCCCCGAAGACCCCCCCAAGCAG c.2280
Q R M G P G A H R G E P A P E D P P K Q p.760
. . . . . . g.18843
CGTTGCCGGGCCCCCGCCTGTGATCATTTTGGCAATGCCAAGTGCAACGGCTACTGCAAC c.2340
R C R A P A C D H F G N A K C N G Y C N p.780
. . . g.18876
GAATGCTTTCAGTTCAAGCAGATGTATGGCTAA c.2373
E C F Q F K Q M Y G X p.790
. . . . . . g.18936
ccggaaacaggtgggtcacctcctgcaagaagtggggcctcgagctgtcagtcatcatgg c.*60
. . . . . . g.18996
tgctatcctctgaacccctcagctgccactgcaacagtgggcttaagggtgtctgagcag c.*120
. . . . . . g.19056
gagaggaaagataagctcttcgtggtgcccacgatgctcaggtttggtaacccgggagtg c.*180
. . . . . . g.19116
ttcccaggtggccttagaaagcaaagcttgtaactggcaagggatgatgtcagattcagc c.*240
. . . . . . g.19176
ccaaggttcctcctctcctaccaagcaggaggccaggaacttctttggacttggaaggtg c.*300
. . . . . . g.19236
tgcggggactggccgaggcccctgcaccctgcgcatcaggactgcttcatcgtcttggct c.*360
. . . . . . g.19296
gagaaagggaaaagacacacaagtcgcgtgggttggagaagccagagccattccacctcc c.*420
. . . . . . g.19356
cctcccccagcatctctcagagatgtgaagccagatcctcatggcagcgaggccctctgc c.*480
. . . . . . g.19416
aagaagctcaaggaagctcagggaaaatggacgtattcagagagtgtttgtagttcatgg c.*540
. . . . . . g.19476
tttttccctacctgcccggttcctttcctgaggacccggcagaaatgcagaaccatccat c.*600
. . . . . . g.19536
ggactgtgattctgaggctgctgagactgaacatgttcacattgacagaaaaacaagctg c.*660
. . . . . . g.19596
ctctttataatatgcaccttttaaaaaattagaatattttactgggaagacgtgtaactc c.*720
. . . . . . g.19656
tttgggttattactgtctttacttctaaagaagttagcttgaactgaggagtaaaagtgt c.*780
. . . . . . g.19716
gtacatatataatatacccttacattatgtatgagggatttttttaaattatattgaaat c.*840
. . . . . . g.19776
gctgccctagaagtacaataggaaggctaaataataataacctgttttctggttgttgtt c.*900
. . . . . . g.19836
ggggcatgagcttgtgtatacactgcttgcataaactcaaccagctgcctttttaaaggg c.*960
. . . . . . g.19896
agctctagtcctttttgtgtaattcactttatttattttattacaaacttcaagattatt c.*1020
. . . . . . g.19956
taagtgaagatatttcttcagctctggggaaaatgccacagtgttctcctgagagaacat c.*1080
. . . . . . g.20016
ccttgctttgagtcaggctgtgggcaagttcctgaccacagggagtaaattggcctcttt c.*1140
. . . . . . g.20076
gatacacttttgcttgcctccccaggaaagaaggaattgcatccaaggtatacatacata c.*1200
. . . . . . g.20136
ttcatcgatgtttcgtgcttctccttatgaaactccagctatgtaataaaaaactatact c.*1260
. . . . . . g.20196
ctgtgttctgttaatgcctctgagtgtcctacctccttggagatgagatagggaaggagc c.*1320
. . . . . . g.20256
agggatgagactggcaatggtcacagggaaagatgtggccttttgtgatggttttatttt c.*1380
. . . . . . g.20316
ctgttaacactgtgtcctgggggggctgggaagtcccctgcatcccatggtaccctggta c.*1440
. . . . . . g.20376
ttgggacagcaaaagccagtaaccatgagtatgaggaaatctctttctgttgctggctta c.*1500
. . . . . . g.20436
cagtttctctgtgtgctttgtggttgctgtcatatttgctctagaagaaaaaaaaaaaag c.*1560
. . . . . . g.20496
gaggggaaatgcattttccccagagataaaggctgccattttgggggtctgtacttatgg c.*1620
. . . . . . g.20556
cctgaaaatatttgtgatccataactctacacagcctttactcatactattaggcacact c.*1680
. . . . . . g.20616
ttccccttagagccccctaagtttttcccagacgaatctttataatttctttccaaagat c.*1740
. . . . . . g.20676
accaaataaacttcagtgttttcatctaattctcttaaagttgatatcttaatattttgt c.*1800
. . . . . . g.20736
gttgatcattatttccattcttaatgtgaaaaaaagtaattatttatacttattataaaa c.*1860
. . . . . . g.20796
agtatttgaaatttgcacatttaattgtccctaatagaaagccacctattctttgttgga c.*1920
. . . . . . g.20856
tttcttcaagtttttctaaataaatgtaacttttcacaagagtcaacattaaaaaataaa c.*1980
. g.20871
ttatttaagaacaga c.*1995
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 19
©2004-2017 Leiden University Medical Center