(used for variant description)
(last modified August 8, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_014290.2 in the TDRD7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028984.1, covering TDRD7 transcript NM_014290.2.
(upstream sequence)
. . . . g.5045
agagccgaggccaggctgccctcgaagcggggcggggcgaagcgg c.-181
. . . . . . g.5105
ggcggggccgagcagggcggggcgggggcttgaggtgattcccaagccgcggggcggctc c.-121
. . . . . . g.5165
cggtggtgcggggaaaccgaaagtgggcggcggccgcggcggggcccctggcggagacgg c.-61
. . . . . . | 02 g.21446
cggcaggagctgggcccagagacgcggggacgggccgtgggcccccggaacgag | gcaaag c.-1
. . . . . . g.21506
ATGCTGGAAGGAGATCTGGTTTCAAAGATGCTACGAGCTGTTCTGCAGTCTCATAAGAAT c.60
M L E G D L V S K M L R A V L Q S H K N p.20
. . . . . . g.21566
GGAGTAGCATTACCCCGGCTCCAAGGAGAGTACAGATCCTTGACTGGAGACTGGATCCCC c.120
G V A L P R L Q G E Y R S L T G D W I P p.40
. . . . . . g.21626
TTCAAACAGCTAGGTTTCCCTACACTAGAAGCCTATCTGAGAAGTGTGCCAGCAGTGGTC c.180
F K Q L G F P T L E A Y L R S V P A V V p.60
. . | 03. . . . g.23946
AGGATAGAGACTAGTAGATCTGGAGAG | ATTACCTGCTATGCCATGGCCTGCACAGAAACT c.240
R I E T S R S G E | I T C Y A M A C T E T p.80
. . . . . . g.24006
GCAAGAATTGCTCAGCTTGTGGCTCGTCAAAGGAGTTCTAAAAGGAAAACCGGGCGTCAA c.300
A R I A Q L V A R Q R S S K R K T G R Q p.100
. . . . | 04 . g.25016
GTTAATTGTCAGATGAGAGTGAAGAAAACCATGCCATTTTTTCTAGAAG | GAAAACCAAAA c.360
V N C Q M R V K K T M P F F L E G | K P K p.120
. . . . . . g.25076
GCAACCCTCAGACAACCAGGATTTGCTTCAAATTTTTCTGTTGGCAAAAAACCTAATCCA c.420
A T L R Q P G F A S N F S V G K K P N P p.140
. . . . . . g.25136
GCACCGTTAAGAGACAAAGGAAACTCTGTTGGAGTTAAGCCTGATGCTGAAATGTCTCCT c.480
A P L R D K G N S V G V K P D A E M S P p.160
. . . . . . g.25196
TATATGCTACACACAACTCTTGGAAATGAAGCATTCAAAGACATTCCAGTGCAAAGGCAT c.540
Y M L H T T L G N E A F K D I P V Q R H p.180
. . | 05 . . . . g.32262
GTGACCATGTCCACCAACAACAG | GTTTAGCCCAAAGGCGTCCCTTCAACCACCTTTGCAG c.600
V T M S T N N R | F S P K A S L Q P P L Q p.200
. . . | 06. . . g.34661
ATGCATCTCTCAAGAACCTCTACTAAGGAAATGAGTG | ATAATTTAAATCAGACTGTTGAA c.660
M H L S R T S T K E M S D | N L N Q T V E p.220
. . . . . . g.34721
AAACCCAATGTCAAGCCTCCTGCCTCTTACACTTATAAAATGGATGAGGTTCAAAATCGC c.720
K P N V K P P A S Y T Y K M D E V Q N R p.240
. . . . . . g.34781
ATAAAGGAAATACTAAACAAGCATAACAATGGCATTTGGATATCTAAGCTTCCACATTTT c.780
I K E I L N K H N N G I W I S K L P H F p.260
. . . . . . g.34841
TACAAAGAGTTATATAAAGAAGACCTTAATCAAGGAATTTTACAACAGTTTGAACACTGG c.840
Y K E L Y K E D L N Q G I L Q Q F E H W p.280
. | 07 . . . . . g.53203
CCTCATATTTGCACG | GTGGAGAAACCTTGCAGTGGTGGCCAAGATTTACTTCTTTATCCA c.900
P H I C T | V E K P C S G G Q D L L L Y P p.300
. . . . . . g.53263
GCTAAGAGAAAGCAGCTTTTGAGAAGTGAACTGGATACTGAGAAAGTACCTCTATCCCCA c.960
A K R K Q L L R S E L D T E K V P L S P p.320
. . . . . . g.53323
CTACCTGGTCCCAAACAAACACCACCGTTGAAAGGGTGTCCAACAGTTATGGCAGGAGAC c.1020
L P G P K Q T P P L K G C P T V M A G D p.340
. . . . . . g.53383
TTTAAAGAAAAAGTGGCAGACCTGCTGGTGAAATACACAAGTGGCCTTTGGGCCAGTGCA c.1080
F K E K V A D L L V K Y T S G L W A S A p.360
. . . . . . g.53443
CTTCCGAAAGCATTTGAGGAAATGTACAAAGTGAAATTCCCTGAGGATGCCTTAAAAAAT c.1140
L P K A F E E M Y K V K F P E D A L K N p.380
. . . . . . g.53503
CTTGCCTCACTTTCTGATGTATGCAGCATAGACTACATTTCTGGAAATCCCCAGAAGGCC c.1200
L A S L S D V C S I D Y I S G N P Q K A p.400
. . . . . . g.53563
ATTCTCTATGCTAAACTTCCATTGCCCACTGACAAAATCCAAAAGGATGCAGGGCAAGCA c.1260
I L Y A K L P L P T D K I Q K D A G Q A p.420
. . . . . . g.53623
CATGGTGATAATGATATCAAGGCTATGGTTGAACAAGAGTATTTGCAGGTAGAAGAAAGC c.1320
H G D N D I K A M V E Q E Y L Q V E E S p.440
. . . . . . g.53683
ATTGCTGAAAGTGCTAATACCTTTATGGAGGACATAACAGTTCCTCCTTTAATGATTCCA c.1380
I A E S A N T F M E D I T V P P L M I P p.460
. . . . . . g.53743
ACTGAAGCATCACCATCTGTATTGGTGGTTGAACTGAGCAACACAAATGAAGTGGTTATC c.1440
T E A S P S V L V V E L S N T N E V V I p.480
| 08 . . . . . . g.57880
AG | GTATGTGGGCAAAGACTATTCTGCTGCTCAGGAATTAATGGAAGATGAGATGAAGGAA c.1500
R | Y V G K D Y S A A Q E L M E D E M K E p.500
. . . . . . g.57940
TATTACAGTAAGAATCCTAAGATCACACCAGTCCAGGCTGTGAATGTTGGGCAGTTGCTG c.1560
Y Y S K N P K I T P V Q A V N V G Q L L p.520
. . . . . . g.58000
GCCGTAAATGCCGAGGAGGACGCCTGGTTACGGGCACAGGTCATCTCAACAGAAGAGAAC c.1620
A V N A E E D A W L R A Q V I S T E E N p.540
| 09 . . . . . g.63589
AAAATAAAG | GTATGCTATGTTGACTATGGTTTTAGTGAAAATGTTGAAAAAAGCAAAGCA c.1680
K I K | V C Y V D Y G F S E N V E K S K A p.560
. . . . . . g.63649
TACAAATTAAACCCGAAGTTTTGTTCACTCTCATTTCAAGCTACAAAATGTAAGCTTGCA c.1740
Y K L N P K F C S L S F Q A T K C K L A p.580
| 10 . . . . . . g.65332
G | GCTTGGAAGTCCTAAGCGATGACCCTGATCTAGTGAAGGTGGTTGAATCTTTAACTTGT c.1800
G | L E V L S D D P D L V K V V E S L T C p.600
. . . . . . g.65392
GGAAAGATCTTTGCAGTGGAAATACTTGACAAAGCTGACATTCCACTTGTTGTTCTGTAC c.1860
G K I F A V E I L D K A D I P L V V L Y p.620
. . . . . . g.65452
GATACCTCAGGAGAAGATGATATCAATATCAATGCCACCTGCTTGAAGGCTATATGTGAC c.1920
D T S G E D D I N I N A T C L K A I C D p.640
. . | 11 . . . . g.66508
AAGTCACTAGAGGTTCACCTGCAG | GTTGACGCCATGTACACAAATGTCAAAGTAACTAAT c.1980
K S L E V H L Q | V D A M Y T N V K V T N p.660
. . . . . . g.66568
ATTTGCTCTGATGGGACACTCTACTGCCAGGTGCCTTGTAAGGGTCTGAACAAGCTCAGT c.2040
I C S D G T L Y C Q V P C K G L N K L S p.680
. . . | 12 . . g.68384
GACCTTCTACGTAAGATAGAGGACTACTTCCATTGCAAG | CACATGACCTCTGAGTGCTTT c.2100
D L L R K I E D Y F H C K | H M T S E C F p.700
. . . . . . g.68444
GTTTCATTACCCTTCTGTGGGAAAATCTGCCTCTTCCATTGCAAAGGAAAATGGTTACGA c.2160
V S L P F C G K I C L F H C K G K W L R p.720
| 13 . . . . . . g.71473
GTAGAG | ATCACAAATGTTCACAGCAGCCGGGCTCTTGATGTTCAGTTCCTGGACTCTGGC c.2220
V E | I T N V H S S R A L D V Q F L D S G p.740
. . . . . . g.71533
ACTGTGACATCTGTAAAAGTGTCAGAGCTCAGGGAAATTCCACCTCGGTTTCTACAAGAA c.2280
T V T S V K V S E L R E I P P R F L Q E p.760
. . | 14 . . . . g.73847
ATGATTGCAATACCACCTCAG | GCCATTAAGTGCTGTTTAGCAGATCTTCCACAATCTATT c.2340
M I A I P P Q | A I K C C L A D L P Q S I p.780
. . . . . . g.73907
GGCATGTGGACACCAGATGCAGTGCTGTGGTTAAGAGATTCTGTTTTGAATTGCTCGGAC c.2400
G M W T P D A V L W L R D S V L N C S D p.800
. | 15 . . . . . g.75877
TGTAGCATTAAG | GTTACAAAAGTGGATGAAACCAGAGGGATCGCACATGTTTATTTATTT c.2460
C S I K | V T K V D E T R G I A H V Y L F p.820
. . . . . . g.75937
ACCCCTAAGAACTTCCCTGACCCTCATCGCAGTATTAATCGCCAGATTACAAATGCAGAC c.2520
T P K N F P D P H R S I N R Q I T N A D p.840
. . . . . . g.75997
TTGTGGAAGCATCAGAAGGATGTGTTTTTGAGTGCCATATCCAGTGGAGCTGACTCTCCC c.2580
L W K H Q K D V F L S A I S S G A D S P p.860
. . . . . . g.76057
AACAGCAAAAATGGCAACATGCCCATGTCGGGCAACACTGGAGAGAATTTCAGAAAGAAC c.2640
N S K N G N M P M S G N T G E N F R K N p.880
. . . . . . g.76117
CTCACAGATGTCATCAAAAAGTCCATGGTGGACCATACGAGCGCTTTCTCCACAGAGGAA c.2700
L T D V I K K S M V D H T S A F S T E E p.900
. . . . . . g.76177
CTGCCACCTCCTGTCCACTTATCAAAGCCAGGGGAACACATGGATGTGTATGTGCCTGTG c.2760
L P P P V H L S K P G E H M D V Y V P V p.920
. . . . . . g.76237
GCCTGTCACCCAGGCTACTTCGTCATCCAGCCTTGGCAGGAGATACATAAGTTGGAAGTT c.2820
A C H P G Y F V I Q P W Q E I H K L E V p.940
. . . . . . g.76297
CTGATGGAAGAGATGATTCTATATTACAGCGTGTCTGAAGAGCGCCACATAGCAGTGGAG c.2880
L M E E M I L Y Y S V S E E R H I A V E p.960
. . . | 16 . . . g.80177
AAAGACCAAGTGTATGCTGCAAAAGTGGAAAATAA | GTGGCACAGGGTGCTTTTAAAAGGA c.2940
K D Q V Y A A K V E N K | W H R V L L K G p.980
. . . . . . g.80237
ATCCTGACCAATGGACTGGTATCTGTGTATGAGCTGGATTATGGCAAACACGAATTAGTC c.3000
I L T N G L V S V Y E L D Y G K H E L V p.1000
. . . . . . g.80297
AACATAAGAAAAGTACAGCCCCTAGTGGACATGTTCCGAAAGCTGCCCTTCCAAGCAGTC c.3060
N I R K V Q P L V D M F R K L P F Q A V p.1020
. | 17 . . . . . g.88687
ACAGCTCAACTTGCAG | GAGTGAAGTGCAACCAGTGGTCTGAGGAGGCTTCTATGGTGTTT c.3120
T A Q L A G | V K C N Q W S E E A S M V F p.1040
. . . . . . g.88747
CGAAATCATGTGGAGAAGAAACCTCTGGTGGCACTGGTGCAGACAGTCATTGAAAATGCT c.3180
R N H V E K K P L V A L V Q T V I E N A p.1060
. . . . . . g.88807
AACCCTTGGGACCGGAAAGTAGTGGTCTACTTAGTGGACACATCGTTGCCAGACACCGAT c.3240
N P W D R K V V V Y L V D T S L P D T D p.1080
. . . . . g.88864
ACCTGGATTCATGATTTTATGTCAGAGTATCTGATAGAGCTTTCAAAAGTTAATTAA c.3297
T W I H D F M S E Y L I E L S K V N X p.1098
. . . . . . g.88924
tgactgcctctgaaaccttgacaactaattcagattttttagcaataacaaaatgtagta c.*60
. . . . . . g.88984
ggcttaaaaaaaatcttaactctgctacatggctctgactgctgtgggggattgaaaaga c.*120
. . . . . . g.89044
atatgcttatgtttgatgaaagatatttaacaagttttgttttaacagagttgacttttc c.*180
. . . . . . g.89104
aaagaaaattgtacttgaattattactataatattagaataaaaatgtttatcaatataa c.*240
g.89106
aa c.*242
(downstream sequence)
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