(used for variant description)
(last modified February 16, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_153046.2 in the TDRD9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering TDRD9 transcript NM_153046.2.
(upstream sequence)
. . . g.5030
ttgggggatgccgacgcctgggccttgagg c.-1
. . . . . . g.5090
ATGCTGCGGAAGCTCACCATCGAGCAGATCAACGACTGGTTCACCATCGGCAAGACGGTG c.60
M L R K L T I E Q I N D W F T I G K T V p.20
. . . . . . g.5150
ACCAATGTGGAGCTGCTGGGCGCGCCGCCCGCCTTCCCGGCAGGGGCGGCCAGGGAGGAG c.120
T N V E L L G A P P A F P A G A A R E E p.40
. . . . . . g.5210
GTGCAGCGCCAGGACGTGGCCCCCGGCGCTGGTCCCGCGGCCCAGGCTCCGGCTCTGGCC c.180
V Q R Q D V A P G A G P A A Q A P A L A p.60
. . . | 02 . . . g.32209
CAAGCTCCGGCCCGGCCGGCCGCTGCGTTCGAAAG | GTCACTCAGCCAAAGGAGCTCAGAA c.240
Q A P A R P A A A F E R | S L S Q R S S E p.80
. . . . . . g.32269
GTAGAGTATATTAACAAATACAGACAGCTCGAAGCACAAGAGCTTGATGTGTGTCGCAGT c.300
V E Y I N K Y R Q L E A Q E L D V C R S p.100
. . | 03 . . . . g.39637
GTCCAACCAACCAGTGGGCCAG | GTCCAAGGCCATCTTTGGCTAAATTAAGCAGTGTGACA c.360
V Q P T S G P G | P R P S L A K L S S V T p.120
. . . . . . g.39697
TGCATCCCAGGGACAACTTATAAATATCCTGATTTGCCTATAAGTCGATACAAGGAAGAG c.420
C I P G T T Y K Y P D L P I S R Y K E E p.140
| 04 . . . . . . g.41913
| GTTGTGTCTTTGATAGAAAGTAATTCCGTGGTGATTATCCATGGGGCCACGGGAAGCGGT c.480
| V V S L I E S N S V V I I H G A T G S G p.160
. . . . . . g.41973
AAAAGCACTCAGCTCCCGCAGTATATCTTGGACCACTACGTTCAGCGCTCCGCCTACTGC c.540
K S T Q L P Q Y I L D H Y V Q R S A Y C p.180
. . . . . . g.42033
AGCATTGTGGTCACCCAGCCCCGGAAGATAGGGGCAAGCAGCATCGCCAGGTGGATCAGT c.600
S I V V T Q P R K I G A S S I A R W I S p.200
. . . . | 05 . . g.43247
AAAGAGCGTGCCTGGACCCTGGGAGGTGTGGTGGGCTACCAG | GTAGGGCTAGAGAAAATA c.660
K E R A W T L G G V V G Y Q | V G L E K I p.220
. . . . . . g.43307
GCAACAGAGGACACCAGGCTAATTTATATGACAACTGGAGTCCTGCTTCAGAAAATAGTT c.720
A T E D T R L I Y M T T G V L L Q K I V p.240
. . . . | 06 . . g.47076
AGTGCCAAGAGTTTGATGGAATTCACACATATCATCATTGATGAA | GTACACGAACGAACA c.780
S A K S L M E F T H I I I D E | V H E R T p.260
. . . . . . g.47136
GAAGAAATGGATTTCCTGCTATTGGTAGTCCGCAAACTCTTAAGAACAAATTCACGTTTT c.840
E E M D F L L L V V R K L L R T N S R F p.280
| 07 . . . . . . g.51963
GTGAAG | GTGGTCCTGATGTCGGCTACCATCAGCTGTAAAGAGTTTGCAGACTACTTTGCT c.900
V K | V V L M S A T I S C K E F A D Y F A p.300
. . . . . . g.52023
GTTCCTGTTCAAAACAAGATGAATCCTGCATATATTTTTGAAGTGGAAGGCAAGCCCCAT c.960
V P V Q N K M N P A Y I F E V E G K P H p.320
. . . . . | 08 . g.62746
TCAGTTGAAGAGTATTATCTTAATGATTTGGAGCACATTCATCATAGCAAG | CTCTCTCCT c.1020
S V E E Y Y L N D L E H I H H S K | L S P p.340
. . . . . . g.62806
CATCTCCTGGAGGAACCGGTGATAACTAAGGATATATATGAAGTTGCTGTCTCTCTCATT c.1080
H L L E E P V I T K D I Y E V A V S L I p.360
. . . | 09 . . . g.67705
CAGATGTTTGATGACTTGGATATGAAGGAGAGTGG | GAACAAGGCTTGGTCGGGGGCCCAG c.1140
Q M F D D L D M K E S G | N K A W S G A Q p.380
. . . . | 10 . . g.70872
TTTGTGTTGGAGCGAAGCAGTGTGTTGGTGTTTTTGCCAG | GTCTGGGTGAAATAAATTAT c.1200
F V L E R S S V L V F L P G | L G E I N Y p.400
. . . | 11 . . . g.71064
ATGCATGAACTTCTCACAAGCCTGGTTCATAAAAG | GTTGCAGGTCTATCCACTCCATTCA c.1260
M H E L L T S L V H K R | L Q V Y P L H S p.420
. . . . . . g.71124
AGTGTGGCTTTAGAAGAACAGAATAATGTCTTTTTAAGTCCAGTCCCTGGGTACAGAAAG c.1320
S V A L E E Q N N V F L S P V P G Y R K p.440
| 12 . . . . . | 13 g.75146
| ATTATTCTGTCCACCAATATTGCAGAGAGTTCTGTCACAGTTCCAGATGTCAAATATG | TT c.1380
| I I L S T N I A E S S V T V P D V K Y V | p.460
. . . . . . g.75206
ATAGATTTTTGTTTGACTAGAACTTTGGTCTGTGATGAAGATACAAATTATCAGAGTCTG c.1440
I D F C L T R T L V C D E D T N Y Q S L p.480
. . . . | 14 . . g.80775
CGATTGAGTTGGGCTTCTAAAACCAGCTGTAATCAGAGAAAAG | GCCGTGCTGGACGAGTG c.1500
R L S W A S K T S C N Q R K G | R A G R V p.500
. . . . . . g.80835
TCTAGAGGGTACTGTTACCGGCTGGTACACAAGGATTTCTGGGACAACTCCATCCCTGAT c.1560
S R G Y C Y R L V H K D F W D N S I P D p.520
. . | 15 . . . . g.81833
CATGTTGTTCCTGAGATGTTG | CGTTGTCCATTAGGAAGCACGATCTTGAAAGTGAAATTA c.1620
H V V P E M L | R C P L G S T I L K V K L p.540
. . . . . . g.81893
CTTGACATGGGTGAGCCGAGAGCTCTGCTGGCCACTGCCCTTTCCCCGCCTGGTCTGAGT c.1680
L D M G E P R A L L A T A L S P P G L S p.560
. . . | 16 . . . g.82936
GACATTGAGCGCACCATCCTTCTACTAAAGGAG | GTTGGAGCACTTGCAGTGAGTGGGCAG c.1740
D I E R T I L L L K E | V G A L A V S G Q p.580
. . . . . . g.82996
AGAGAAGATGAAAACCCCCATGATGGTGAATTGACCTTCTTAGGAAGAGTTTTAGCCCAA c.1800
R E D E N P H D G E L T F L G R V L A Q p.600
. . . . . . g.83056
CTTCCTGTAAATCAGCAACTTGGTAAACTCATAGTCCTTGGACATGTATTTGGATGTCTA c.1860
L P V N Q Q L G K L I V L G H V F G C L p.620
. | 17 . . . . g.83207
GATGAATGTCTTATTATAG | CGGCAGCTCTTTCTTTGAAGAATTTTTTTGCAATGCCTTTC c.1920
D E C L I I A | A A L S L K N F F A M P F p.640
. . | 18 . . . . g.83339
CGGCAGCATCTCGATGGATATAG | GAACAAAGTGAATTTCTCTGGCAGTAGCAAGAGTGAC c.1980
R Q H L D G Y R | N K V N F S G S S K S D p.660
. . | 19. . . . g.83713
TGTATTGCACTTGTTGAGGCATTTAAA | ACATGGAAGGCTTGCAGACAGACAGGGGAGCTG c.2040
C I A L V E A F K | T W K A C R Q T G E L p.680
. | 20 . . . . . g.84981
CGGTACCCGAAG | GATGAACTTAATTGGGGACGGTTAAATTACATTCAAATCAAGAGAATT c.2100
R Y P K | D E L N W G R L N Y I Q I K R I p.700
| 21 . . . . . . g.91299
AGAGAG | GTGGCTGAATTATATGAAGAATTGAAGACTAGAATCTCACAGTTCAACATGCAT c.2160
R E | V A E L Y E E L K T R I S Q F N M H p.720
. . . . . . g.91359
GTTGATTCTCGGCGACCTGTCATGGACCAAGAGTATATATATAAGCAGCGATTCATCCTA c.2220
V D S R R P V M D Q E Y I Y K Q R F I L p.740
| 22 . . . . . . g.92558
CAG | GTTGTATTGGCAGGTGCTTTCTATCCAAATTACTTTACTTTTGGACAGCCGGATGAG c.2280
Q | V V L A G A F Y P N Y F T F G Q P D E p.760
. . . . . | 23 . g.94621
GAGATGGCGGTGAGGGAGCTGGCTGGCAAGGACCCCAAGACAACTGTCGTG | TTGAAACAC c.2340
E M A V R E L A G K D P K T T V V | L K H p.780
. . . . . . g.94681
ATTCCTCCCTATGGATTTCTTTACTATAAACAACTACAGTCTCTCTTTAGACAGTGTGGT c.2400
I P P Y G F L Y Y K Q L Q S L F R Q C G p.800
. . . | 24 . . . g.98705
CAAGTCAAATCCATTGTATTTGATGGTGCAAA | AGCCTTTGTGGAATTCTCACGAAATCCA c.2460
Q V K S I V F D G A K | A F V E F S R N P p.820
. . . . . . g.98765
ACAGAGAGATTTAAAACCCTTCCTGCAGTATATATGGCAATTAAGATGTCTCAACTAAAA c.2520
T E R F K T L P A V Y M A I K M S Q L K p.840
. . . . . . g.98825
GTTTCACTTGAACTCAGCGTTCATTCTGCAGAGGAAATTGAAGGGAAGGTGCAAGGCATG c.2580
V S L E L S V H S A E E I E G K V Q G M p.860
. . | 25 . . . . g.101123
AACGTCTCAAAGCTCAGGAACACAAG | GGTGAATGTGGACTTCCAGAAGCAGACGGTAGAT c.2640
N V S K L R N T R | V N V D F Q K Q T V D p.880
. . . . . . g.101183
CCTATGCAAGTCTCCTTTAACACATCAGACAGGTCCCAGACAGTTACAGATCTCCTTCTA c.2700
P M Q V S F N T S D R S Q T V T D L L L p.900
. | 26 . . . . g.102126
ACTATTGATGTCACAGAG | GTGGTTGAAGTGGGACACTTTTGGGGATACAGGATTGATGAA c.2760
T I D V T E | V V E V G H F W G Y R I D E p.920
. . . . . . g.102186
AACAACTCAGAGATTCTGAAAAAGCTTACTGCTGAAATCAACCAACTGACGCTGGTGCCC c.2820
N N S E I L K K L T A E I N Q L T L V P p.940
. . . . . . g.102246
TTGCCCACTCACCCACATCCAGACTTGGTCTGTCTGGCACCTTTTGCTGATTTTGATAAA c.2880
L P T H P H P D L V C L A P F A D F D K p.960
. . . . . | 27 . g.102576
CAACGCTACTTTAGAGCTCAAGTCCTTTATGTTTCTGGAAATTCTGCTGAG | GTATTCTTT c.2940
Q R Y F R A Q V L Y V S G N S A E | V F F p.980
. . . . . . g.102636
GTAGATTATGGCAATAAGTCTCATGTAGATCTACATCTTTTGATGGAGATTCCCTGTCAA c.3000
V D Y G N K S H V D L H L L M E I P C Q p.1000
. . | 28 . . . . g.103238
TTTCTTGAACTTCCTTTCCAG | GCTTTGGAATTTAAGATTTGCAAAATGAGACCATCAGCA c.3060
F L E L P F Q | A L E F K I C K M R P S A p.1020
. . . . . . g.103298
AAGTCTCTTGTTTGTGGCAAGCACTGGAGTGACGGGGCCAGCCAGTGGTTCGCCTCTCTG c.3120
K S L V C G K H W S D G A S Q W F A S L p.1040
. . . . . . g.103358
GTGAGCGGCTGCACCCTCCTTGTGAAGGTCTTCTCTGTGGTGCACAGCGTCCTGCACGTG c.3180
V S G C T L L V K V F S V V H S V L H V p.1060
. . . . . . g.103418
GATGTGTACCAGTACTCAGGGGTCCAGGATGCCATCAACATAAGAGACGTCCTCATCCAG c.3240
D V Y Q Y S G V Q D A I N I R D V L I Q p.1080
. . . . | 29 . . g.107646
CAGGGCTATGCCGAGCTCACGGAGGAGTCCTACGAGTCCAAG | CAAAGCCATGAAGTTCTC c.3300
Q G Y A E L T E E S Y E S K | Q S H E V L p.1100
. . . . . . g.107706
AAGGGCCTCTTTTCCAAGTCAGTAGAAAACATGACAGATGGCTCTGTGCCCTTTCCCATG c.3360
K G L F S K S V E N M T D G S V P F P M p.1120
. . . . . . g.107766
AAAGACGACGAGAAATATCTCATCCGGATTTTGTTAGAGAGCTTTTCTACCAATAAACTG c.3420
K D D E K Y L I R I L L E S F S T N K L p.1140
. | 30 . . . . g.108579
GGTACTCCAAACTGTAAG | GCAGAACTTCACGGGCCTTTTAACCCTTATGAACTAAAGTGC c.3480
G T P N C K | A E L H G P F N P Y E L K C p.1160
. . | 31 . . . g.110511
CATAGTTTGACCAGAATATCCAAATTCAG | GTGTGTTTGGATTGAGAAGGAGAGCATCAAC c.3540
H S L T R I S K F R | C V W I E K E S I N p.1180
. . . . . . g.110571
TCTGTCATTATCAGTGACGCCCCTGAAGACCTTCACCAGAGAATGCTGGTTGCAGCTTCC c.3600
S V I I S D A P E D L H Q R M L V A A S p.1200
. | 32 . . . . g.111521
CTTTCCATCAATGCGACTG | GATCTACGATGCTGCTGAGAGAAACCTCTCTGATGCCTCAT c.3660
L S I N A T G | S T M L L R E T S L M P H p.1220
. . . . . | 33 . g.116720
ATCCCTGGCCTCCCGGCTCTCCTCAGCATGTTATTCGCACCGGTGATAGAGTTAAG | GATT c.3720
I P G L P A L L S M L F A P V I E L R | I p.1240
. . . . . . g.116780
GATCAGAATGGCAAGTACTATACTGGAGTCCTTTGTGGTTTGGGGTGGAATCCAGCTACA c.3780
D Q N G K Y Y T G V L C G L G W N P A T p.1260
. . . . . . g.116840
GGGGCTTCCATACTGCCCGAGCACGACATGGAGCTTGCGTTTGACGTTCAATTCAGCGTG c.3840
G A S I L P E H D M E L A F D V Q F S V p.1280
. | 34 . . . . . g.118634
GAGGATGTCGTCGAG | GTTAATATTCTCAGGGCTGCTATTAACAAGCTAGTCTGTGATGGA c.3900
E D V V E | V N I L R A A I N K L V C D G p.1300
. . . . . . g.118694
CCAAATGGATGCAAGTGTCTTGGGCCAGAGAGAGTTGCGCAGCTTCAAGACATTGCCCGT c.3960
P N G C K C L G P E R V A Q L Q D I A R p.1320
. | 35 . . . . . g.126174
CAGAAGCTTTTAGG | TTTGTTCTGTCAGTCAAAACCAAGGGAGAAGATTGTTCCCAAGTGG c.4020
Q K L L G | L F C Q S K P R E K I V P K W p.1340
. . | 36. . . . g.128534
CATGAAAAGCCCTACGAGTGGAATCAG | GTTGATCCAAAGCTGGTCATGGAGCAGGCCGAC c.4080
H E K P Y E W N Q | V D P K L V M E Q A D p.1360
. . . . . . g.128594
CGTGAGAGCAGCAGAGGGAAGAACACCTTTCTCTACCAGCTCCACAAACTGGTTGTGCTC c.4140
R E S S R G K N T F L Y Q L H K L V V L p.1380
g.128603
GGCACCTGA c.4149
G T X p.1382
. . . . . . g.128663
gcatgtccacaggtggcctccagcacacccctcaggaagctgtggaggctggattccagg c.*60
. . . . . . g.128723
ctccctccgcagactgactttcctctgtgtctgggtgttacagtctgtgcccactgcatc c.*120
. . . . . . g.128783
ctaaaggccttttctttcttcttttctctttgggtgatagtcagagagtggtgtttttgt c.*180
. . . . . . g.128843
tcaggtgggaaggattggaaactctagtcttttctagaaacagaaaatcactgtattaaa c.*240
. . . . . . g.128903
tattttggaaagattgttctgaaagaagtctgtttggataaagagctgtattttgcttta c.*300
. . . . . . g.128963
aatttattaaggtaaatataagtagttaatcttagatgtaaggttccagaatgtgcttac c.*360
. . . . . . g.129023
atattctgttctgttacagtgatttaaaccagtagtataggaaaaaacttaaaaaaacaa c.*420
. . . . . . g.129083
aaaaaccatgtagtattttctgatttttttttccatgagggaaaatatctaatttttata c.*480
. . . . . . g.129143
agactaagttgagttatacttcttggttcacattttggaaatcagagattacagattaca c.*540
. . . . g.129188
tggccatagcttatctgtgttaaaacaataaaagcattaaatgaa c.*585
(downstream sequence)
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