(used for variant description)
(last modified November 24, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_007375.3 in the TARDBP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008734.1, covering TARDBP transcript NM_007375.3.
(upstream sequence)
. g.5014
ggtgggcgggggga c.-121
. . . . . . g.5074
ggaggcggccctagcgccattttgtgggagcgaagcggtggctgggctgcgcttgggtcc c.-61
. . . . . | 02. g.6106
gtcgctgcttcggtgtccctgtcgggcttcccagcagcggcctagcgg | gaaaagtaaaag c.-1
. . . . . . g.6166
ATGTCTGAATATATTCGGGTAACCGAAGATGAGAACGATGAGCCCATTGAAATACCATCG c.60
M S E Y I R V T E D E N D E P I E I P S p.20
. . . . . . g.6226
GAAGACGATGGGACGGTGCTGCTCTCCACGGTTACAGCCCAGTTTCCAGGGGCGTGTGGG c.120
E D D G T V L L S T V T A Q F P G A C G p.40
. . . . . . g.6286
CTTCGCTACAGGAATCCAGTGTCTCAGTGTATGAGAGGTGTCCGGCTGGTAGAAGGAATT c.180
L R Y R N P V S Q C M R G V R L V E G I p.60
. . . . . | 03 g.9224
CTGCATGCCCCAGATGCTGGCTGGGGAAATCTGGTGTATGTTGTCAACTATCCAAAAG | AT c.240
L H A P D A G W G N L V Y V V N Y P K D | p.80
. . . . . . g.9284
AACAAAAGAAAAATGGATGAGACAGATGCTTCATCAGCAGTGAAAGTGAAAAGAGCAGTC c.300
N K R K M D E T D A S S A V K V K R A V p.100
. . . . . . g.9344
CAGAAAACATCCGATTTAATAGTGTTGGGTCTCCCATGGAAAACAACCGAACAGGACCTG c.360
Q K T S D L I V L G L P W K T T E Q D L p.120
. . . . | 04 . . g.11129
AAAGAGTATTTTAGTACCTTTGGAGAAGTTCTTATGGTGCAG | GTCAAGAAAGATCTTAAG c.420
K E Y F S T F G E V L M V Q | V K K D L K p.140
. . . . . . g.11189
ACTGGTCATTCAAAGGGGTTTGGCTTTGTTCGTTTTACGGAATATGAAACACAAGTGAAA c.480
T G H S K G F G F V R F T E Y E T Q V K p.160
. . . . . . g.11249
GTAATGTCACAGCGACATATGATAGATGGACGATGGTGTGACTGCAAACTTCCTAATTCT c.540
V M S Q R H M I D G R W C D C K L P N S p.180
| 05 . . . . . . g.12864
AAG | CAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAG c.600
K | Q S Q D E P L R S R K V F V G R C T E p.200
. . . . . . g.12924
GACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTC c.660
D M T E D E L R E F F S Q Y G D V M D V p.220
. . . . . | 06 . g.14508
TTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAG | ATTGCG c.720
F I P K P F R A F A F V T F A D D Q | I A p.240
. . . . . . g.14568
CAGTCTCTTTGTGGAGAGGACTTGATCATTAAAGGAATCAGCGTTCATATATCCAATGCC c.780
Q S L C G E D L I I K G I S V H I S N A p.260
. . . . . . g.14628
GAACCTAAGCACAATAGCAATAGACAGTTAGAAAGAAGTGGAAGATTTGGTGGTAATCCA c.840
E P K H N S N R Q L E R S G R F G G N P p.280
. . . . . . g.14688
GGTGGCTTTGGGAATCAGGGTGGATTTGGTAATAGCAGAGGGGGTGGAGCTGGTTTGGGA c.900
G G F G N Q G G F G N S R G G G A G L G p.300
. . . . . . g.14748
AACAATCAAGGTAGTAATATGGGTGGTGGGATGAACTTTGGTGCGTTCAGCATTAATCCA c.960
N N Q G S N M G G G M N F G A F S I N P p.320
. . . . . . g.14808
GCCATGATGGCTGCCGCCCAGGCAGCACTACAGAGCAGTTGGGGTATGATGGGCATGTTA c.1020
A M M A A A Q A A L Q S S W G M M G M L p.340
. . . . . . g.14868
GCCAGCCAGCAGAACCAGTCAGGCCCATCGGGTAATAACCAAAACCAAGGCAACATGCAG c.1080
A S Q Q N Q S G P S G N N Q N Q G N M Q p.360
. . . . . . g.14928
AGGGAGCCAAACCAGGCCTTCGGTTCTGGAAATAACTCTTATAGTGGCTCTAATTCTGGT c.1140
R E P N Q A F G S G N N S Y S G S N S G p.380
. . . . . . g.14988
GCAGCAATTGGTTGGGGATCAGCATCCAATGCAGGGTCGGGCAGTGGTTTTAATGGAGGC c.1200
A A I G W G S A S N A G S G S G F N G G p.400
. . . . g.15033
TTTGGCTCAAGCATGGATTCTAAGTCTTCTGGCTGGGGAATGTAG c.1245
F G S S M D S K S S G W G M X p.414
. . . . . . g.15093
acagtggggttgtggttggttggtatagaatggtgggaattcaaatttttctaaactcat c.*60
. . . . . . g.15153
ggtaagtatattgtaaaatacatatgtactaagaattttcaaaattggtttgttcagtgt c.*120
. . . . . . g.15213
ggagtatattcagcagtatttttgacatttttctttagaaaaaggaagagctaaaggaat c.*180
. . . . . . g.15273
tttataagttttgttacatgaaaggttgaaatattgagtggttgaaagtgaactgctgtt c.*240
. . . . . . g.15333
tgcctgattggtaaaccaacacactacaattgatatcaaaaggtttctcctgtaatattt c.*300
. . . . . . g.15393
tatccctggacttgtcaagtgaattctttgcatgttcaaaacggaaaccattgattagaa c.*360
. . . . . . g.15453
ctacattctttaccccttgttttaatttgaaccccaccatatggatttttttccttaaga c.*420
. . . . . . g.15513
aaatctccttttaggagatcatggtgtcacagtgtttggttcttttgttttgttttttaa c.*480
. . . . . . g.15573
cacttgtctcccctcatacacaaaagtacaatatgaagccttcatttaatctctgcagtt c.*540
. . . . . . g.15633
catctcatttcaaatgtttatggaagaagcacttcattgaaagtagtgctgtaaatattc c.*600
. . . . . . g.15693
tgccataggaatactgtctacatgctttctcattcaagaattcgtcatcacgcatcacag c.*660
. . . . . . g.15753
gccgcgtctttgacggtgggtgtcccatttttatccgctactctttatttcatggagtcg c.*720
. . . . . . g.15813
tatcaacgctatgaacgcaaggctgtgatatggaaccagaaggctgtctgaacttttgaa c.*780
. . . . . . g.15873
accttgtgtgggattgatggtggtgccgaggcatgaaaggctagtatgagcgagaaaagg c.*840
. . . . . . g.15933
agagagcgcgtgcagagacttggtggtgcataatggatattttttaacttggcgagatgt c.*900
. . . . . . g.15993
gtctctcaatcctgtggctttggtgagagagtgtgcagagagcaatgatagcaaataatg c.*960
. . . . . . g.16053
tacgaatgttttttgcattcaaaggacatccacatctgttggaagacttttaagtgagtt c.*1020
. . . . . . g.16113
tttgttcttagataacccacattagatgaatgtgttaagtgaaatgatacttgtactccc c.*1080
. . . . . . g.16173
cctacccctttgtcaactgctgtgaatgctgtatggtgtgtgttctcttctgttactgat c.*1140
. . . . . . g.16233
atgtaagtgtggcaatgtgaactgaagctgatgggctgagaacatggactgagcttgtgg c.*1200
. . . . . . g.16293
tgtgctttgcaggaggacttgaagcagagttcaccagtgagctcaggtgtctcaaagaag c.*1260
. . . . . . g.16353
ggtggaagttctaatgtctgttagctacccataagaatgctgtttgctgcagttctgtgt c.*1320
. . . . . . g.16413
cctgtgcttggatgctttttataagagttgtcattgttggaaattcttaaataaaactga c.*1380
. . . . . . g.16473
tttaaataatatgtgtctttgttttgcagccctgaatgcaaagaattcatagcagttaat c.*1440
. . . . . . g.16533
tccccttttttgacccttttgagatggaactttcataaagtttcttggcagtagtttatt c.*1500
. . . . . . g.16593
ttgcttcaaataaacttatttgaaaagttgtctcaagtcaaatggattcatcacctgtca c.*1560
. . . . . . g.16653
tgcattgacacctgatacccagacttaattggtatttgttcttgcattggccaaagtgaa c.*1620
. . . . . . g.16713
aatttttttttttcttttgaaatctagttttgaataagtctgggtgaccgcacctaaaat c.*1680
. . . . . . g.16773
ggtaagcagtaccctccggctttttcttagtgcctctgtgcatttgggtgatgttctatt c.*1740
. . . . . . g.16833
tacatggcctgtgtaaatctccattgggaagtcatgccttctaaaaagattcttatttgg c.*1800
. . . . . . g.16893
gggagtgggcaaaatgttgattattttctaatgctttgtagcaaagcatatcaattgaaa c.*1860
. . . . . . g.16953
agggaatatcagcaccttcctagtttgggatttgaaaagtggaattaattgcagtaggga c.*1920
. . . . . . g.17013
taaagtagaagaaaccacaaattatcttgtgcctgaaatccattaagaggcctgatagct c.*1980
. . . . . . g.17073
ttaagaattagggtgggttgtctgtctggaagtgttaagtggaatgggctttgtcctcca c.*2040
. . . . . . g.17133
ggaggtgggggaatgtggtaacattgaatacagttgaataaaatcgcttacaaaactcac c.*2100
. . . . . . g.17193
actctcacaatgcattgttaagtatgtaaaagcaataacattgattctctgttgtacttt c.*2160
. . . . . . g.17253
tttgtaactaattctgtgagagttgagctcattttctagttggaagaatgtgatatttgt c.*2220
. . . . . . g.17313
tgtgttggtagtttacctaatgcccttacctaattagattatgataaataggtttgtcat c.*2280
. . . . . . g.17373
tttgcaagttacataaacatttatcaatgaagtcatcctttagacttgtaatcgccacat c.*2340
. . . . . . g.17433
tgtttcattattcagtttcctctgtaaagggatcttgagttgttttaattttttttttct c.*2400
. . . . . . g.17493
gcatctgaatctgcatgatttccaaaccctgtaccatctgaattttgcattttagcactt c.*2460
. . . . . . g.17553
gcactattactcagcagcagtaacatggtaacacttaaaatggtactcggggacctccaa c.*2520
. . . . . . g.17613
agactaaactgacaagccttcaaggagcccaggggtaagttaacttgtcaacggcatggt c.*2580
. . . . . . g.17673
ttaatcccttctttacacttgtgtaaatttcagttactggtcatagaaggctttcaatgt c.*2640
. . . . . . g.17733
tgagtggccttttattaacatgtttatggtactgcatagatacgggtatttattttaccc c.*2700
. . . . . . g.17793
taagaagattttgaagtttaaaagtacttaaactatttggcaaagatttgtttttaaaaa c.*2760
. . . . . . g.17853
tctatttggtcaatctaaatgcattcattctaaaaaattttttgaaccagataaataaaa c.*2820
. g.17871
tttttttttgacaccaca c.*2838
(downstream sequence)
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