(used for variant description)
(last modified July 24, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_032271.2 in the TRAF7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering TRAF7 transcript NM_032271.2.
(upstream sequence)
. . . g.5039
ggccgagggggcatcatgaagcgggctggcggcgctgcc c.-61
. . . | 02 . . . g.13123
gctcccgggcggccgcgggcgg | gaggtgcttcccaaggaccgtagatgcctctctagagc c.-1
. . . . . . g.13183
ATGAGCTCAGGCAAGAGTGCCCGCTACAACCGCTTCTCCGGGGGGCCCAGCAATCTTCCC c.60
M S S G K S A R Y N R F S G G P S N L P p.20
. . | 03 . . . . g.15120
ACCCCAGACGTCACCACAGGG | ACCAGAATGGAAACGACCTTCGGACCCGCCTTTTCAGCC c.120
T P D V T T G | T R M E T T F G P A F S A p.40
. | 04 . . . . g.17320
GTCACCACCATCACAAAAG | CTGACGGGACCAGCACCTACAAGCAGCACTGCAGGACACCC c.180
V T T I T K A | D G T S T Y K Q H C R T P p.60
. . . . . | 05 . g.19825
TCCTCCTCCAGCACCCTTGCCTACTCCCCGCGGGACGAGGAGGACAGCATG | CCCCCCATC c.240
S S S S T L A Y S P R D E E D S M | P P I p.80
. . . . . . g.19885
AGCACTCCCCGCCGCTCCGACTCCGCCATCTCTGTCCGCTCCCTGCACTCAGAGTCCAGC c.300
S T P R R S D S A I S V R S L H S E S S p.100
. . . . | 06 . g.20478
ATGTCTCTGCGCTCCACATTCTCACTGCCCGAGGAGGAGGAGGAGCCG | GAGCCACTGGTG c.360
M S L R S T F S L P E E E E E P | E P L V p.120
. . . . . . g.20538
TTTGCGGAGCAGCCCTCGGTGAAGCTGTGCTGTCAGCTCTGCTGCAGCGTCTTCAAAGAC c.420
F A E Q P S V K L C C Q L C C S V F K D p.140
. . | 07 . . . | 08 . g.21398
CCCGTGATCACCACGTGTGGG | CACACGTTCTGTAGGAGATGCGCCTTGAAGTCAG | AGAAG c.480
P V I T T C G | H T F C R R C A L K S E | K p.160
. . . . . . g.21458
TGTCCCGTGGACAACGTCAAACTGACCGTGGTGGTGAACAACATCGCGGTGGCCGAGCAG c.540
C P V D N V K L T V V V N N I A V A E Q p.180
. . . . . . g.21518
ATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCC c.600
I G E L F I H C R H G C R V A G S G K P p.200
. . . . . | 09 g.21668
CCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAA | G c.660
P I F E V D P R G C P F T I K L S A R K | p.220
. . . . . . g.21728
GACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCC c.720
D H E G S C D Y R P V R C P N N P S C P p.240
. . . . . . g.21788
CCGCTGCTCAGGATGAACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCC c.780
P L L R M N L E A H L K E C E H I K C P p.260
. | 10 . . . . . g.22430
CACTCCAAGTACGG | GTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAG c.840
H S K Y G | C T F I G N Q D T Y E T H L E p.280
. . . . . . g.22490
ACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAG c.900
T C R F E G L K E F L Q Q T D D R F H E p.300
. . . . . . g.22550
ATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTGCGCTCCATGCTGGGA c.960
M H V A L A Q K D Q E I A F L R S M L G p.320
. . . . . | 11 . g.22691
AAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTG | ACGTCCTG c.1020
K L S E K I D Q L E K S L E L K F D | V L p.340
. . . . . . g.22751
GACGAAAACCAGAGCAAGCTCAGCGAGGACCTCATGGAGTTCCGGCGGGACGCATCCATG c.1080
D E N Q S K L S E D L M E F R R D A S M p.360
| 12 . . . . . | 13 . g.23128
TTAAAT | GACGAGCTGTCCCACATCAACGCGCGGCTGAACATGGGCATCCTAGGCT | CCTAC c.1140
L N | D E L S H I N A R L N M G I L G S | Y p.380
. . . . . . g.23188
GACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGG c.1200
D P Q Q I F K C K G T F V G H Q G P V W p.400
. . . . . . g.23248
TGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATC c.1260
C L C V Y S M G D L L F S G S S D K T I p.420
| 14 . . . . . . g.23510
AAG | GTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGC c.1320
K | V W D T C T T Y K C Q K T L E G H D G p.440
. . | 15 . . . . g.24347
ATCGTGCTGGCTCTCTGCATCCAGGG | GTGCAAACTCTACAGCGGCTCTGCAGACTGCACC c.1380
I V L A L C I Q G | C K L Y S G S A D C T p.460
| 16 . . . . . . g.24557
ATCATT | GTGTGGGACATCCAGAACCTGCAGAAGGTGAACACCATCCGGGCCCATGACAAC c.1440
I I | V W D I Q N L Q K V N T I R A H D N p.480
. . . . . . g.24617
CCGGTGTGCACGCTGGTCTCCTCACACAACGTGCTCTTCAGCGGCTCCCTGAAGGCCATC c.1500
P V C T L V S S H N V L F S G S L K A I p.500
| 17 . . . . . . g.24759
AAG | GTCTGGGACATCGTGGGCACTGAGCTGAAGTTGAAGAAGGAGCTCACAGGCCTCAAC c.1560
K | V W D I V G T E L K L K K E L T G L N p.520
. . . . . . g.24819
CACTGGGTGCGGGCCCTGGTGGCTGCCCAGAGCTACCTGTACAGCGGCTCCTACCAGACA c.1620
H W V R A L V A A Q S Y L Y S G S Y Q T p.540
| 18 . . . . . . g.25090
ATCAAG | ATCTGGGACATCCGAACCCTTGACTGCATCCACGTCCTGCAGACGTCTGGTGGC c.1680
I K | I W D I R T L D C I H V L Q T S G G p.560
. . . . . . g.25150
AGCGTCTACTCCATTGCTGTGACAAATCACCACATTGTCTGTGGCACCTACGAGAACCTC c.1740
S V Y S I A V T N H H I V C G T Y E N L p.580
| 19 . . . . . . g.25305
ATCCAC | GTGTGGGACATTGAGTCCAAGGAGCAGGTGCGGACCCTCACGGGCCACGTGGGC c.1800
I H | V W D I E S K E Q V R T L T G H V G p.600
. . . . . . g.25365
ACCGTGTATGCCCTGGCGGTCATCTCGACGCCAGACCAGACCAAAGTCTTCAGTGCATCC c.1860
T V Y A L A V I S T P D Q T K V F S A S p.620
. | 20 . . . . g.25509
TACGACCGGTCCCTCAGG | GTCTGGAGTATGGACAACATGATCTGCACGCAGACCCTGCTG c.1920
Y D R S L R | V W S M D N M I C T Q T L L p.640
. . . . . . g.25569
CGTCACCAGGGCAGTGTCACCGCGCTGGCTGTGTCCCGGGGCCGACTCTTCTCAGGGGCT c.1980
R H Q G S V T A L A V S R G R L F S G A p.660
. | 21 . g.25804
GTGGATAGCACTGTGAAG | GTTTGGACTTGCTAA c.2013
V D S T V K | V W T C X p.670
. . . . . . g.25864
caggatccaggccaggctgtggtttcccctgaaccagccctggacctttctgagccaggc c.*60
. . . . . . g.25924
tggccacatggggtggtctcggggtttctgcctgccccgtgggcataggtggacaggctc c.*120
. . . . . . g.25984
tggcagccgggcagtgccctccccgtcccatgctcggcgagcctccctctactcggcact c.*180
. . . . . . g.26044
gtccttgctgcccagcccctctctgggtgccaggtacgacgcttgccccggcccaccctc c.*240
. . . . . . g.26104
catccccaccctccatccccaccctagatggagcgagggcctttttactcaccttttcta c.*300
. . . . . . g.26164
ccgtttttagactgtatgtagatttggttacctcctggttgaaataaatgctccacagac c.*360
. . . . . . g.26224
tgtggctgtgagtggggacagctcctcgggacaagggggctgtgtgtggccttgaggttg c.*420
. . . . . . g.26284
gtgtgcacaggcactggctgctgtgagtgggggggcatggggcagtttcctttggtggac c.*480
. . . . . . g.26344
cccaggacttcggcccactccggggcctcccctccctgctaggaggcaactcgtcacacc c.*540
. . . . . . g.26404
caagctgctggcctccagtcccatctcccccaacacatgtgcccccaaaaagtgagccag c.*600
. . . . . . g.26464
gcacctctgtttcctgctgtttattgacagccgacggcagcgccttgcccagacctcccc c.*660
. . . . . . g.26524
tgcccacctgctggagcccagcctgtgccgccctctgaggagaggcctggggggacagct c.*720
. . . . . . g.26584
gggcacgtccactcgcagggaaacacggggtgagacagcaggaaggggccctgcacgccg c.*780
. . . . . . g.26644
ggacgccacctccgccagccgcctccacccgccccacaccacaatcgctggttttcggca c.*840
. . . . . . g.26704
ttttttaaattttttttttaagaaacgtcaaagttgtgcccaacactgtggatcagcaaa c.*900
. . . . . . g.26764
cacgatagaggagaccagtcagtacttcttggagggggcaggaggagagaggaaaaggga c.*960
. . . . . . g.26824
gggcgagaatgaccacacaacacagccttggaccatgagcagaagcgtccgtgggaactc c.*1020
. . . . . . g.26884
cactggggtggatgggctgcctgcacagcccctggagagggggccaggcacaccctcaga c.*1080
. . . . . . g.26944
ggagctgcaagcccgtggcctggcctgctacatgccctgcttccacgtggctgccacgct c.*1140
. . . . . . g.27004
gacacacccacattcaccaaacccacccgcgccctgggacgcagccacgccaggaggagg c.*1200
. . . . . . g.27064
acacggccgccgagagcaaggcacaacctcgagttcttggggcgcagagaacttaggaga c.*1260
. . . . . . g.27124
gaagcacggaggagcccccggcagagcacccgcccccgggccccagccttccacctgtgc c.*1320
. . . . . . g.27184
tagcagcctggggcctccactctggccggaggaaggaccgcaggcagacagcctgggcct c.*1380
. . . . . . g.27244
ctaacagcttttgtccggagctagacttcgtgtcctttcagttggtaaatggttttctat c.*1440
. . . . . . g.27304
agaatcaataatatttctttctttaaatatatatttgttaaagttatacctttttgtttc c.*1500
. . . . . g.27359
tctggggaaatccgcctcagctcattcccaataaattaatactcttgatagctta c.*1555
(downstream sequence)
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