(used for variant description)
(last modified June 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_013236.3 in the ATXN10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016212.1, covering ATXN10 transcript NM_013236.3.
(upstream sequence)
. . g.5026
aggcgggacttccgccggcgccccct c.-241
. . . . . . g.5086
cccccgcggcgccgtctcctcctcccgcctgaggcgagtctgggctcagcctagagctct c.-181
. . . . . . g.5146
ccggcggcggcgcagcttcagggcagcgcgggctgcagcggcggcggcggttagggctgt c.-121
. . . . . . g.5206
gtagggcgaggcctcccccttcctcctcgccatcctactcctccctcctcgtcatcctcc c.-61
. . . . . . g.5266
cccttcgtcctcctcgccttcctcctcctcgtcaggctcgacccagctgtgagcggcaag c.-1
. . . . . . g.5326
ATGGCGGCGCCCAGGCCGCCGCCTGCCAGGCTGTCGGGCGTCATGGTGCCGGCGCCCATC c.60
M A A P R P P P A R L S G V M V P A P I p.20
. . . . . | 02 . g.22918
CAAGACCTGGAGGCCCTGCGCGCGCTCACGGCGCTCTTCAAAGAGCAGCGGAACCG | AGAA c.120
Q D L E A L R A L T A L F K E Q R N R | E p.40
. . . . . . g.22978
ACAGCACCCAGGACTATCTTCCAAAGAGTTCTGGATATCCTAAAGAAATCTTCTCATGCT c.180
T A P R T I F Q R V L D I L K K S S H A p.60
. . . . . . g.23038
GTTGAGCTTGCCTGCAGAGATCCATCCCAAGTGGAAAACCTGGCTTCCAGTCTGCAGTTA c.240
V E L A C R D P S Q V E N L A S S L Q L p.80
. . . . . . g.23098
ATAACAGAATGCTTCAGGTGTCTTCGCAATGCTTGCATAGAGTGTTCTGTGAACCAGAAT c.300
I T E C F R C L R N A C I E C S V N Q N p.100
| 03 . . . . . g.26250
TCAATCAG | GAACTTGGATACGATTGGTGTTGCTGTTGATTTGATTCTTCTGTTTCGTGAA c.360
S I R | N L D T I G V A V D L I L L F R E p.120
. . . | 04 . . . g.33513
CTGCGAGTGGAACAGGAATCTCTGTTGACAG | CTTTTCGCTGTGGCCTGCAGTTTTTAGGC c.420
L R V E Q E S L L T A | F R C G L Q F L G p.140
. . . . . . g.33573
AACATTGCCTCACGGAATGAAGATTCCCAGTCTATTGTTTGGGTGCATGCTTTCCCAGAA c.480
N I A S R N E D S Q S I V W V H A F P E p.160
| 05 . . . . . g.35943
CTGTTTTT | GTCTTGCTTAAATCATCCGGACAAAAAAATTGTTGCCTACTCTTCAATGATT c.540
L F L | S C L N H P D K K I V A Y S S M I p.180
. . . . . . g.36003
TTGTTTACATCCCTTAATCATGAAAGAATGAAAGAACTGGAGGAGAACCTCAATATTGCA c.600
L F T S L N H E R M K E L E E N L N I A p.200
. . . . | 06. . g.51628
ATTGATGTCATAGATGCTTACCAAAAACATCCTGAATCAGAATGGCC | GTTCTTGATTATT c.660
I D V I D A Y Q K H P E S E W P | F L I I p.220
. . . . . . g.51688
ACAGACCTCTTTCTGAAAAGCCCGGAATTGGTACAAGCCATGTTTCCCAAACTGAACAAT c.720
T D L F L K S P E L V Q A M F P K L N N p.240
| 07 . . . . . g.62679
CAAGAAAG | AGTTACACTGTTAGACCTTATGATAGCCAAGATAACGAGTGATGAGCCACTC c.780
Q E R | V T L L D L M I A K I T S D E P L p.260
. . . . . . g.62739
ACCAAGGATGACATCCCTGTGTTTTTGCGGCATGCTGAGTTGATTGCAAGCACCTTTGTG c.840
T K D D I P V F L R H A E L I A S T F V p.280
. . . . . | 08 . g.71939
GATCAGTGCAAGACTGTGCTCAAGCTGGCCTCTGAGGAGCCTCCTGATGATGAG | GAGGCA c.900
D Q C K T V L K L A S E E P P D D E | E A p.300
. . . . . . g.71999
CTGGCTACAATTAGGCTTCTCGACGTCCTGTGCGAAATGACTGTGAATACTGAGCTGCTC c.960
L A T I R L L D V L C E M T V N T E L L p.320
. . . . | 09 . . g.73588
GGCTATCTGCAGGTTTTCCCTGGCTTGCTGGAAAGAGTGATTG | ATCTTTTGCGGGTGATT c.1020
G Y L Q V F P G L L E R V I D | L L R V I p.340
. . . . . . g.73648
CATGTAGCTGGAAAAGAAACCACAAACATCTTCAGTAATTGTGGTTGCGTGAGAGCAGAA c.1080
H V A G K E T T N I F S N C G C V R A E p.360
. . . . . . g.73708
GGTGACATCTCCAATGTGGCCAATGGGTTTAAGTCTCATCTCATTCGTCTGATTGGAAAT c.1140
G D I S N V A N G F K S H L I R L I G N p.380
. . . | 10 . . . g.140188
CTGTGTTACAAGAATAAAGATAACCAAGACAAG | GTAAATGAGCTGGATGGTATCCCGTTG c.1200
L C Y K N K D N Q D K | V N E L D G I P L p.400
. . . | 11. . . g.176216
ATCCTGGACAACTGCAACATCAGTGACAGTAACCCCT | TTCTGACCCAGTGGGTGATATAT c.1260
I L D N C N I S D S N P F | L T Q W V I Y p.420
. . . . . . g.176276
GCCATCCGAAACCTTACCGAAGACAACAGCCAAAACCAAGATTTGATTGCAAAGATGGAG c.1320
A I R N L T E D N S Q N Q D L I A K M E p.440
. . . . . . g.176336
GAACAGGGGCTGGCAGATGCATCCCTACTTAAAAAAGTGGGTTTTGAAGTTGAAAAGAAA c.1380
E Q G L A D A S L L K K V G F E V E K K p.460
. . . . | 12 g.176886
GGCGAAAAGCTGATCCTGAAATCTACTAGAGACACCCCTAAGCCA | TGA c.1428
G E K L I L K S T R D T P K P | X p.475
. . . . . . g.176946
atgaactacatccaaatacctgaatttttggaatctgtttcatggatttttcatcttcta c.*60
. . . . . . g.177006
ccgtatgtgaaattgcaagtgtttgaagatttataagtacaaatttgggaacatacaaat c.*120
. . . . . . g.177066
cttttaggtagtagagtttaacgtgtataagctaaaagtgaaagtaactgagtgttctct c.*180
. . . . . . g.177126
tgtttctttgcattaatgtaactgtgtggtttgcctttgtccccctggatagaacgtgca c.*240
. . . . . . g.177186
tttaaagaatatattgtacttactgtgacagcagataataaaccagtctcttggagggca c.*300
. . . . . . g.177246
caacccttatttgacaaaacttggatgttggcttgactgtgtttgtcccttcagatggca c.*360
. . . . . . g.177306
agtcagcatcattctttatattcctcttctcattgggttttctgaactctggcaggcggt c.*420
. . . . . . g.177366
tgaagtagtttctcactgtgattaattctagcaatctcttttcacccctctgcctttcca c.*480
. . . . . . g.177426
aaacattgacaagactcatttccagttaattaattcgagaaccctccctcttcattttgg c.*540
. . . . . . g.177486
gtactgggctgtcttgtcactgagccctatccctttggaatgtggcagggagtgaggttg c.*600
. . . . . . g.177546
gtgagagaacatgtgggcacttaactcttcatgttccagttcatcccagaagtagacatc c.*660
. . . . . . g.177606
ccaggacccattctgtgtcaaggtgaatgcctgtgtcctccccagcttcatgcctctgtc c.*720
. . . . . . g.177666
atgggggaaggaatagcttatgttctgctctggtgcagtgccgtagattaaaggtacatt c.*780
. . . . . . g.177726
tctatcttctttgatttaaaaagcaccagtctcataaaggtgccactcagttttagccat c.*840
. . . . . . g.177786
gtcttcactgaaattgcaaaagtacttttagggagcaggagtttatttgacatctagtta c.*900
. . . . . . g.177846
tctgtctgtctgttcatctatctatctgtctgctgtatgagaggtaggactggattaaat c.*960
. . . . . . g.177906
gaccactgaactcactgaatccagatcattcatatcatcaacaaaagctctagggggagg c.*1020
. . . . . . g.177966
tcacgttgtgaatgcttaaaacatattattttcttcaacaaccatatcgctaaactaata c.*1080
. . . . . . g.178026
tatccagagattttgcacaattcgtgttgaaccttccaaaacaaaaataaagacctgtcc c.*1140
. . . . . . g.178086
aaaagttttgacaaaaatactgattgctcccaaataaagtgcttctaagctttgtgtaga c.*1200
. . . . . . g.178146
catagtttaactgatttgtaaaaatagcttaagcatgttgagaatgaagtaaaagttttc c.*1260
. . . . . . g.178206
ccatgtgctgtctaatgtactctgtgtaactctgaagacacatcagcttctaggattgca c.*1320
. . . . . . g.178266
gcaatctatgaataacattttttctctcatttatgactttccatcagtaaagaagccatt c.*1380
. . . . . . g.178326
gcagaatttaaaattacacaaaggagtcattctctcctgggacataaagagttaaagctc c.*1440
. . . . . . g.178386
tgtcctctaaatagaagcctggccaaagggagaaaacagtgggagtcccttttccctttt c.*1500
. . . . . . g.178446
aacaagtttgcaatagacacttctttttttcctgtctcaatggatgtgtgcacaccagtg c.*1560
. . . . . . g.178506
gaatcgcacaaacttgtcggtatgagctatataataacaaacacaaataaataaaaggga c.*1620
. g.178522
gccttgtgagaataca c.*1636
(downstream sequence)
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