(used for variant description)
(last modified January 5, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000333.3 in the ATXN7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008227.1, covering ATXN7 transcript NM_000333.3.
(upstream sequence)
. g.5013
gaaaaagggtgaa c.-541
. . . . . . g.5073
agagaaacttggcgacctcccggaggagttcgcgaagcgaccaggagcgtgttgccatcg c.-481
. . . . . . g.5133
tcctcacccggcacccaattccaccacagagtcgggatttcgtcggtgatcgtgatgggg c.-421
. . . . . . g.5193
tgcttttatttttctctttgattttcaaaaaatgtctatgtgactgtccctatcttaagg c.-361
. . . . . . g.5253
ggaagttgaaagtgggggcgggggtgctcaatgagaaacgttgccttgtgtgtagttgtt c.-301
. . . . . . g.5313
tggagcacactgcaaattatattggcatctctttccaaaagtcactttgattcaacttcg c.-241
. . . . . . g.5373
atagctttctcgtaaatggcacgtttaggtggtgagaggtggatgaggaaacaggcacca c.-181
. . . . . . g.5433
gtgcagctgatttgacctccagtgggatagatacgattagcaccaggatcgtgtctcatt c.-121
. | 02 . . . . g.38892
ttgaacccag | atctgaacagaattaagacgaacgagctttcacaattgcagcagatgaag c.-61
. . . . . | 03 g.53042
atccattggtaaattgatcaggatttttggcctaccctccaaagaaaag | gagcggaaaga c.-1
. . . . . . g.53102
ATGTCGGAGCGGGCCGCGGATGACGTCAGGGGGGAGCCGCGCCGCGCGGCGGCGGCGGCG c.60
M S E R A A D D V R G E P R R A A A A A p.20
. . . . . . g.53162
GGCGGAGCAGCGGCCGCGGCCGCCCGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCCG c.120
G G A A A A A A R Q Q Q Q Q Q Q Q Q Q P p.40
. . . . . . g.53222
CCGCCTCCGCAGCCCCAGCGGCAGCAGCACCCGCCACCGCCGCCACGGCGCACACGGCCG c.180
P P P Q P Q R Q Q H P P P P P R R T R P p.60
. . . . . . g.53282
GAGGACGGCGGGCCCGGCGCCGCCTCCACCTCGGCCGCCGCAATGGCGACGGTCGGGGAG c.240
E D G G P G A A S T S A A A M A T V G E p.80
. . . . . . g.53342
CGCAGGCCTCTGCCCAGTCCTGAAGTGATGCTGGGACAGTCGTGGAATCTGTGGGTTGAG c.300
R R P L P S P E V M L G Q S W N L W V E p.100
. . | 04 . . . . g.53635
GCTTCCAAACTTCCTGGGAAGGACG | GGACAGAATTGGACGAAAGTTTCAAGGAGTTTGGG c.360
A S K L P G K D G | T E L D E S F K E F G p.120
. . . | 05 . . . g.92848
AAAAACCGCGAAGTCATGGGGCTCTGTCGGGAAG | ACATGCCAATATTTGGTTTCTGTCCA c.420
K N R E V M G L C R E D | M P I F G F C P p.140
. . . . . . g.92908
GCCCATGATGATTTCTACTTGGTGGTGTGTAACGACTGTAATCAGGTTGTCAAACCGCAG c.480
A H D D F Y L V V C N D C N Q V V K P Q p.160
. | 06 . . . . g.120399
GCATTTCAATCACATTATG | AAAGAAGACATAGCTCATCCAGCAAGCCGCCTTTGGCCGTT c.540
A F Q S H Y E | R R H S S S S K P P L A V p.180
. . . . . . g.120459
CCTCCCACTTCAGTATTTTCCTTCTTCCCTTCTCTGTCCAAAAGCAAAGGAGGCAGTGCA c.600
P P T S V F S F F P S L S K S K G G S A p.200
. . . . . . g.120519
AGTGGAAGCAACCGTTCTTCCAGTGGAGGTGTTCTTAGCGCATCCTCATCAAGTTCCAAG c.660
S G S N R S S S G G V L S A S S S S S K p.220
. . . . . . g.120579
TTGTTGAAATCACCCAAAGAGAAACTGCAGCTCAGGGGGAACACCAGGCCAATGCATCCC c.720
L L K S P K E K L Q L R G N T R P M H P p.240
. . . | 07 . . . g.122657
ATTCAGCAAAGTAGAGTTCCCCATGGTAGAAT | CATGACACCCTCTGTGAAAGTGGAAAAG c.780
I Q Q S R V P H G R I | M T P S V K V E K p.260
. . . . . . g.122717
ATTCATCCGAAAATGGATGGCACACTACTGAAATCTGCGGTGGGGCCAACCTGTCCTGCT c.840
I H P K M D G T L L K S A V G P T C P A p.280
. . . . . . g.122777
ACTGTGAGTTCCTTAGTCAAGCCTGGCCTTAACTGCCCCTCAATACCAAAGCCAACCTTG c.900
T V S S L V K P G L N C P S I P K P T L p.300
. . . . . . g.122837
CCTTCACCTGGACAGATTCTGAATGGCAAAGGGCTTCCTGCACCGCCCACTCTGGAAAAG c.960
P S P G Q I L N G K G L P A P P T L E K p.320
. . . . . | 08 . g.123390
AAACCTGAAGACAATTCCAATAATAGGAAATTTTTAAATAAGAGATTATCAG | AAAGAGAG c.1020
K P E D N S N N R K F L N K R L S E | R E p.340
. . . . . . g.123450
TTTGATCCTGACATCCACTGTGGGGTTATTGATCTCGACACCAAGAAGCCCTGCACCCGG c.1080
F D P D I H C G V I D L D T K K P C T R p.360
. | 09 . . . . . g.128547
TCTTTGACATGCAAG | ACACATTCCTTAACCCAGCGCAGGGCTGTCCAGGGTAGAAGAAAA c.1140
S L T C K | T H S L T Q R R A V Q G R R K p.380
. . . . . . g.128607
CGATTTGATGTGTTATTAGCCGAGCACAAAAACAAAACCAGGGAAAAGGAATTGATTCGC c.1200
R F D V L L A E H K N K T R E K E L I R p.400
. . . . . . g.128667
CATCCGGACTCTCAGCAACCACCGCAGCCTCTCAGGGACCCGCATCCCGCCCCTCCTAGA c.1260
H P D S Q Q P P Q P L R D P H P A P P R p.420
. . . . . . g.128727
ACGTCACAGGAGCCGCACCAAAACCCTCACGGAGTGATTCCTTCCGAATCAAAGCCTTTT c.1320
T S Q E P H Q N P H G V I P S E S K P F p.440
. . . . | 10 . . g.130638
GTAGCTAGTAAACCTAAACCTCACACCCCCAGTCTTCCAAG | GCCTCCAGGCTGCCCTGCT c.1380
V A S K P K P H T P S L P R | P P G C P A p.460
. . . . . . g.130698
CAGCAAGGTGGGAGTGCCCCCATTGACCCTCCTCCAGTCCATGAATCTCCACACCCTCCC c.1440
Q Q G G S A P I D P P P V H E S P H P P p.480
. . . . . . g.130758
CTGCCTGCCACTGAGCCAGCTTCTCGGTTATCCAGTGAGGAGGGCGAAGGCGATGACAAA c.1500
L P A T E P A S R L S S E E G E G D D K p.500
. . . . . . g.130818
GAAGAGTCTGTTGAAAAACTGGACTGTCATTATTCAGGTCATCATCCTCAGCCAGCATCT c.1560
E E S V E K L D C H Y S G H H P Q P A S p.520
| 11 . . . . . . g.131241
| TTTTGCACATTTGGGAGCCGGCAGATAGGAAGAGGCTATTACGTGTTTGACTCCAGGTGG c.1620
| F C T F G S R Q I G R G Y Y V F D S R W p.540
. . . . . . g.131301
AATCGACTTCGCTGCGCCCTCAACCTCATGGTGGAGAAGCATCTGAATGCACAGCTATGG c.1680
N R L R C A L N L M V E K H L N A Q L W p.560
| 12 . . . . . . g.136006
AA | GAAAATCCCACCAGTGCCCAGTACCACCTCACCCATCTCCACACGTATTCCTCACCGG c.1740
K | K I P P V P S T T S P I S T R I P H R p.580
. . . . . . g.136066
ACAAACTCTGTGCCGACATCACAATGTGGAGTCAGCTATCTGGCAGCAGCCACCGTCTCT c.1800
T N S V P T S Q C G V S Y L A A A T V S p.600
. . . . . . g.136126
ACATCCCCAGTCCTGCTCTCATCTACCTGCATCTCCCCAAATAGCAAATCGGTACCAGCT c.1860
T S P V L L S S T C I S P N S K S V P A p.620
. . . . . . g.136186
CATGGAACCACACTAAATGCACAGCCTGCTGCTTCAGGGGCGATGGATCCTGTGTGCAGT c.1920
H G T T L N A Q P A A S G A M D P V C S p.640
. . . . . . g.136246
ATGCAATCCAGACAAGTGTCCTCTTCATCCTCATCCCCTTCCACGCCCTCTGGCCTTTCC c.1980
M Q S R Q V S S S S S S P S T P S G L S p.660
. . . . . . g.136306
TCGGTTCCTTCCTCCCCCATGTCCAGGAAACCTCAGAAATTGAAATCCAGCAAATCTTTG c.2040
S V P S S P M S R K P Q K L K S S K S L p.680
. . . . . . g.136366
AGGCCCAAGGAGTCTTCTGGTAACAGCACTAACTGTCAAAATGCCAGTAGCAGTACCAGT c.2100
R P K E S S G N S T N C Q N A S S S T S p.700
. . . . . . g.136426
GGCGGCTCAGGAAAGAAACGCAAAAACAGTTCCCCACTGTTGGTTCACTCTTCCTCCTCC c.2160
G G S G K K R K N S S P L L V H S S S S p.720
. . . . . . g.136486
TCTTCCTCCTCCTCCTCTTCTTCTCATTCCATGGAGTCTTTTAGGAAAAACTGTGTGGCT c.2220
S S S S S S S S H S M E S F R K N C V A p.740
. . . . . . g.136546
CACTCTGGGCCTCCCTACCCCTCAACGGTAACATCTTCCCATAGCATCGGCCTCAACTGT c.2280
H S G P P Y P S T V T S S H S I G L N C p.760
. . . . . . g.136606
GTGACGAATAAAGCAAATGCGGTGAACGTCCGGCATGACCAGTCAGGGAGGGGCCCCCCC c.2340
V T N K A N A V N V R H D Q S G R G P P p.780
. . . . . . g.136666
ACCGGGAGCCCTGCTGAATCCATCAAGAGGATGAGTGTGATGGTGAACAGCAGTGATTCT c.2400
T G S P A E S I K R M S V M V N S S D S p.800
. . . . . . g.136726
ACTCTTTCTCTTGGGCCATTCATTCACCAGTCCAATGAACTGCCTGTCAACTCCCACGGC c.2460
T L S L G P F I H Q S N E L P V N S H G p.820
. . . . . . g.136786
AGTTTTTCCCACTCACACACTCCTCTAGACAAACTCATAGGAAAGAAAAGAAAGTGCTCA c.2520
S F S H S H T P L D K L I G K K R K C S p.840
. . . . . . g.136846
CCCAGCTCGAGCAGCATCAACAACAGCAGCAGCAAACCCACAAAGGTTGCCAAAGTGCCA c.2580
P S S S S I N N S S S K P T K V A K V P p.860
. . . . . . g.136906
GCCGTGAACAATGTCCACATGAAACACACAGGCACCATCCCAGGGGCACAAGGACTGATG c.2640
A V N N V H M K H T G T I P G A Q G L M p.880
. . | 13 . g.139932
AACAGTTCCCTCCTTCATCAG | CCAAAGGCACGTCCCTGA c.2679
N S S L L H Q | P K A R P X p.892
. . . . . . g.139992
cagctgaaaatagcacggggaggaataatgcggacacttttgaggacaagttacacctcc c.*60
. . . . . . g.140052
actcagcactctggactccacgatgcctttgagtctgttttcccaacctcctgtgggcct c.*120
. . . . . . g.140112
caagggtagaaacctgccgggctgttgttttaacgaggatttccctgaagctatgtctct c.*180
. . . . . . g.140172
agcagtgagtactcataaaggacactggatcaagttcagccaccgaattgcttttatcag c.*240
. . . . . . g.140232
tgttaaagtggtctgaactgcttgctaccaatctgtgagaagtttttgtttttgttttgt c.*300
. . . . . . g.140292
tttttaacttgcagtatatcacagagccactcttcaagtagattggctgggcaaaagaat c.*360
. . . . . . g.140352
gttttggcaagagcgttactgtagacctttctccctccttccttttactaccattttttt c.*420
. . . . . . g.140412
ttaacactgtcatctgtaggtcactctccagcagttaggcaccttaactggagaccagaa c.*480
. . . . . . g.140472
accttccagagaacacagggctgcatcccgagcaaccctctgaagaagggaattaggctt c.*540
. . . . . . g.140532
tagattttgatagcaatgttccaggaatgaaatatagatgttagcccaagacaccatgac c.*600
. . . . . . g.140592
aaaatagcccagccttttgagagtaatttgggaaaagaagctgtcagaagtttctaactt c.*660
. . . . . . g.140652
acaaactggtttgaaatttttgatgcccagacagcaagtataaatcattttggaggctta c.*720
. . . . . . g.140712
cttttcatgatacaaaagcaattctgtgtgatttttttttttaagaagaaagaaaatgca c.*780
. . . . . . g.140772
agctagttttgagaaaggaaggccaaattgggtcgggggagggtgggagtgaggaagtta c.*840
. . . . . . g.140832
aaatcactatagggagaaaaaacttttttcaagatttccaaagagatgaaattttcttaa c.*900
. . . . . . g.140892
tccttttaagttttcatagtaaacagtatggcagattgggttggttgtcctacctggtct c.*960
. . . . . . g.140952
atttttaaaagtcaccttttaaagtgacattattagatacacttaaatgtttccaaggca c.*1020
. . . . . . g.141012
ctctctacattacccttgtttttctctttggatactgtcctgggactaagtgtagatttc c.*1080
. . . . . . g.141072
tgcttcaagcacttctggcattgtgtgtttttgtatgcactccccttcatgccacttcag c.*1140
. . . . . . g.141132
atgtttatttggatgtggttggggacgagagcagacaccaaggaaagggagttggagaga c.*1200
. . . . . . g.141192
atgtaagtcctgacctgaaggtcttttgtgatgcatgtataggattgccctgacacacac c.*1260
. . . . . . g.141252
cctcctttcttgggattataccagccatcttcctgagagttttggagccctctaggatat c.*1320
. . . . . . g.141312
tttttctagtaccccaccccccacccctaaagaaagaccttaatatgttaaaacagcatt c.*1380
. . . . . . g.141372
gcttggagaaggtgtcattgaattccgggacgagccggagcctttaaatgggtgcttcca c.*1440
. . . . . . g.141432
ccactacaggctcctgacacgagtaacaggcactgttgcttagaagaacacacgaagttg c.*1500
. . . . . . g.141492
ccgaacacagggtaaaatttccaaggcgctgatcgttgccctggccagggcctgatgaga c.*1560
. . . . . . g.141552
gccagtcagtacattctttttttcctacagttcttgggtttcaaacttcagtttcaggga c.*1620
. . . . . . g.141612
atttcaagtcaacaacaggtagaatgaataaacttggttaccagcctaataatgtgaatt c.*1680
. . . . . . g.141672
gctacagaattattcttattatgtaagaaaacaaaaactttatgcagatactttagctat c.*1740
. . . . . . g.141732
aaattgatgtaaaatactgatttttttaaaggaaggagagaacagtatcttgttcaatta c.*1800
. . . . . . g.141792
ttatgcaatcaatcagtaaatgtttttaaaatgatactacaggagagcttagtaaggaga c.*1860
. . . . . . g.141852
gggcatggatgggccagtttggcatagttgggagaaatcagtctggtttccatcccagtc c.*1920
. . . . . . g.141912
ggggaagagagaggtgagagggaatcagaacgtacctagttgattccttggtgacaagtg c.*1980
. . . . . . g.141972
caatggggtatgggtagaatttattttcagagccaagaggacttgatggttataaataaa c.*2040
. . . . . . g.142032
gttgcctttagcaatggaatttacagatcgatcatgttgttccgaaagatgtgaatagga c.*2100
. . . . . . g.142092
tccacaataacaagttgattcagactaatgtagatatttagattagcaagtattgaacat c.*2160
. . . . . . g.142152
ttgatttcttagactgaggttttaaatgaatttcattatttctcccggtaatacacagag c.*2220
. . . . . . g.142212
catcgggattaggaaattagccattttggattctgtctgccacaaacagacctattctaa c.*2280
. . . . . . g.142272
acagtgctattaaattttagactgttgttcaaatattttattttctcctaaactactttt c.*2340
. . . . . . g.142332
tatggtgatgaataattaagaccatttaaaacacgggagtacaagtatttttttgaatta c.*2400
. . . . . . g.142392
aattaacttgcaaaaaccaaatttgcagtggttgggttgtttctagacagactttggtat c.*2460
. . . . . . g.142452
caatttaaaaccaagataatttttatattctttccaatagaatttcatgacaactcctgc c.*2520
. . . . . . g.142512
agttttcttaacctacaaaaaaaaaaaaaaagtgctgcaatgatgaacaaagaattatac c.*2580
. . . . . . g.142572
aaaacctacttttgtatctttattttggaatttcttgttctattataaatatggaagtat c.*2640
. . . . . . g.142632
ccctatttcagaagacatattttgttaaaaatgaattgtacatatttaaatatgtatttt c.*2700
. . . . . . g.142692
tgcacaggtctttttttctgatatcctgttttggtacaattgagatcatctagtatttat c.*2760
. . . . . . g.142752
ttattaattaataaaagtaaatacctttttataatttgaagtggttcactgccaagccaa c.*2820
. . . . . . g.142812
tagttctagaacctgcctcctttacagttttaagggatgcctctgttctgtgaaaagtct c.*2880
. . . . . . g.142872
ttgtcccttttagtgtctcgggagtggattcatacagatgaagtgggcattgcttcttcc c.*2940
. . . . . . g.142932
tggttgcctggtttcccgatagactacatgtaactaagtgacacactgcttttcttttgt c.*3000
. . . . . . g.142992
tagtattttatgtgtgggagtatgtgactgcgtgtgtgtgtgcctgtgcgtgtgtgtgta c.*3060
. . . . . . g.143052
tactcagcacatgtatgttactatgtgatgtggtttaaaactaatggaaaaaactgaaag c.*3120
. . . . . . g.143112
tgcctgaaactagttttaagcttagacagaatctctttaaaaagacttgaatgttcagtt c.*3180
. . . . . . g.143172
gaacttttggagtttgctttttccacctaaatattgtttctaaaattttaggggcggagt c.*3240
. . . . . . g.143232
tgaaaaccaccaatgctggtaattttataaggtattttaaaattaagacctcttggttca c.*3300
. . . . . . g.143292
tagtaattcaattggtgatggattgcctggtggcaccaagggttacagatctttttgtca c.*3360
. . . . . . g.143352
gccagcaacttacacgatgtgtccgttttgttattcactcatgaaatacaatttaaaata c.*3420
. . . . . . g.143412
tttaaaatattttgtattccaaaaatataatacaaagaagtacctctgagaacattgaaa c.*3480
. . . . . . g.143472
aaaatgtataatttgaaaaatgtaacttataagggcagctgtcttcctgcaagagttctg c.*3540
. . . . . . g.143532
ttgccaaggaatttcttaatgtcgctcattctgtccagggggtttggggcgattgggctt c.*3600
. . . . . . g.143592
tgaaaaaatattcttaaaagtttgtttagcagaaaataatcacttttacattttgtgcaa c.*3660
. . . . . . g.143652
aacattttacattttcagataatttaaatgagcactacatactgtcagtgtgaatgtagg c.*3720
. . . . . . g.143712
gccttgaaagcattttgcttttttttttttttttttttttttgagcttggttataaaagc c.*3780
. . . . . . g.143772
aatctcctgtgttaaaaacgtgtgaatagtttgataatttgtacacataatcaagagcat c.*3840
. . . . . . g.143832
ctcagctggactttgtgttggctgctgtatagaacatgaacaaatgtcaagggatagaaa c.*3900
. . . . . . g.143892
attactttggatatttaaaagagaagaaatatatagtctatttgttttgtaacaagtttc c.*3960
. . . g.143927
tgtaaataaaataatttatactatttataagaaaa c.*3995
(downstream sequence)
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