(used for variant description)
(last modified September 29, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_024650.3 in the C11orf80 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering C11orf80 transcript NM_024650.3.
(upstream sequence)
g.5007
ggaaggg c.-1
. . . . . . g.5067
ATGGGCTCGCGCTGCCGGGCGTGGGCGTGGACTCGGGCGTGGGCACTGGCGGAGTTCCAA c.60
M G S R C R A W A W T R A W A L A E F Q p.20
. . . . . . g.5127
GCCCGGGCTGAGGAGGGGGCGGCGGCGGCGGCGGCGGCGGCGGGCGGGTACCCTTCGACT c.120
A R A E E G A A A A A A A A G G Y P S T p.40
. . . . . | 02. g.8646
GGGCGTTGCCGCTGTTCCCTGCGCGGCATGGAGGGGACGGCCGTGGCCGTGTTCGAG | ATT c.180
G R C R C S L R G M E G T A V A V F E | I p.60
. . . . . . g.8706
TTGAGATTTTTAATAATTCACTGGAAGTGTGACATAGATGTATCAAAGGGAGCATTGCTA c.240
L R F L I I H W K C D I D V S K G A L L p.80
. . . . . . g.8766
GAAGGGCAGCTAGTGATTTCCATAGAAGGATTAAATTCTAAGCACCAGGCAAATGCTCTT c.300
E G Q L V I S I E G L N S K H Q A N A L p.100
. | 03 . . . . . g.16661
CATTGTGTAACAACTA | GATGGAGTCTCACTCTGTTACCCAGGCCGGAGTGCAGTGGCGCA c.360
H C V T T R | W S L T L L P R P E C S G A p.120
. . . . . . g.16721
GTCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCATGCCTCAGTCCCC c.420
V S A H C N L H L P G S S D S H A S V P p.140
. . . . | 04 . g.19318
CGAGTAGCTGGGATTACAGATGCCCACCACCATGCCTGGCTAATTATGG | TTGCTTCTGCA c.480
R V A G I T D A H H H A W L I M V | A S A p.160
. . . . | 05 . . g.48441
GGAAGCCTTTTTGGTGGCATGGTCCTCAAGAAGTTCCTAAAAG | AAATACAGTCCATACTG c.540
G S L F G G M V L K K F L K E | I Q S I L p.180
. . . . . . g.48501
CCCGGAATCTCTGCAAAGCTGACTTGGACTTCAGAGGAAGGCAGCTATTCTCAGGATATG c.600
P G I S A K L T W T S E E G S Y S Q D M p.200
. . . | 06 . . . g.56572
ACAGGGGTAACACCCTTCCAGATGATTTTTGAG | GTTGATGAAAAGCCCAGAACCTTGATG c.660
T G V T P F Q M I F E | V D E K P R T L M p.220
. . . . . | 07. g.60908
ACAGATTGTCTGGTTATAAAGCATTTTTTACGTAAAATCATCATGGTGCACCCTAAG | GTC c.720
T D C L V I K H F L R K I I M V H P K | V p.240
. . . . . | 08 . g.61302
AGATTTCATTTCAGTGTAAAGGTAAATGGAATCCTCTCCACAGAGATCTTTGG | GGTGGAG c.780
R F H F S V K V N G I L S T E I F G | V E p.260
. . . . . . g.61362
AATGAACCCACTTTGAACCTTGGGAATGGAATTGCTCTTTTGGTCGACTCCCAGCATTAT c.840
N E P T L N L G N G I A L L V D S Q H Y p.280
| 09 . . . . . . g.64317
GTGAG | ACCAAATTTTGGTACAATTGAATCACACTGCAGCAGAATTCACCCTGTGCTAGGA c.900
V R | P N F G T I E S H C S R I H P V L G p.300
. . . . . . g.64377
CATCCAGTAATGCTTTTCATCCCTGAAGACGTGGCTGGCATGGACTTGTTGGGAGAACTG c.960
H P V M L F I P E D V A G M D L L G E L p.320
. . . . . . g.64437
ATACTGACTCCAGCAGCTGCACTGTGCCCCAGCCCAAAGGTTTCTTCCAACCAGCTTAAC c.1020
I L T P A A A L C P S P K V S S N Q L N p.340
. | 10 . . . . g.74171
AGGATTTCTTCAGTTTCC | ATATTTCTATATGGACCTTTGGGTCTGCCTCTGATATTGTCA c.1080
R I S S V S | I F L Y G P L G L P L I L S p.360
. . . . . . g.74231
ACTTGGGAGCAGCCGATGACTACTTTCTTCAAAGATACCTCTTCTTTAGTTGACTGGAAA c.1140
T W E Q P M T T F F K D T S S L V D W K p.380
. . . . | 11 . g.76328
AAATACCATTTGTGTATGATACCCAATTTGGATCTCAATTTGGATAGAG | ATTTGGTGCTT c.1200
K Y H L C M I P N L D L N L D R D | L V L p.400
. . . . . . g.76388
CCAGATGTGAGTTATCAGGTGGAATCCAGTGAGGAGGATCAGTCTCAGACTATGGATCCT c.1260
P D V S Y Q V E S S E E D Q S Q T M D P p.420
. . . . . . g.76448
CAAGGACAAACTCTGCTGCTTTTTCTCTTTGTGGATTTCCACAGTGCATTTCCAGTCCAG c.1320
Q G Q T L L L F L F V D F H S A F P V Q p.440
. | 12 . . . . . g.81951
CAAATGGAAATCTGGG | GAGTCTATACTTTGCTCACAACTCATCTCAATGCCATCCTTGTG c.1380
Q M E I W G | V Y T L L T T H L N A I L V p.460
. . . . . . g.82011
GAGAGCCACAGTGTAGTGCAAGGTTCCATCCAATTCACTGTGGACAAGGTCTTGGAGCAA c.1440
E S H S V V Q G S I Q F T V D K V L E Q p.480
. | 13 . . . . g.82870
CATCACCAGGCTGCCAAG | GCTCAGCAGAAACTACAGGCCTCACTCTCAGTGGCTGTGAAC c.1500
H H Q A A K | A Q Q K L Q A S L S V A V N p.500
. . . . . . g.82930
TCCATCATGAGTATTCTGACTGGAAGCACTAGGAGCAGCTTCCGAAAGATGTGTCTCCAG c.1560
S I M S I L T G S T R S S F R K M C L Q p.520
| 14 . . . . . g.88581
ACCCTTCAA | GCAGCTGACACACAAGAGTTCAGGACCAAACTGCACAAAGTATTTCGTGAG c.1620
T L Q | A A D T Q E F R T K L H K V F R E p.540
. . . . | 15 . g.98643
ATCACCCAACACCAATTTCTTCACCACTGCTCATGTGAGGTGAAGCAG | CAGCTAACCCTA c.1680
I T Q H Q F L H H C S C E V K Q | Q L T L p.560
. . . . . . g.98703
GAAAAAAAGGACTCAGCCCAGGGCACTGAGGACGCACCTGATAACAGCAGCCTGGAGCTC c.1740
E K K D S A Q G T E D A P D N S S L E L p.580
| 16. . . . . . g.103166
CTAGCAG | ATACCAGCGGGCAAGCAGAAAACAAGAGGCTCAAGAGGGGCAGCCCCCGCATA c.1800
L A D | T S G Q A E N K R L K R G S P R I p.600
. . . . . . g.103226
GAGGAGATGCGAGCTCTGCGCTCTGCCAGGGCCCCGAGCCCGTCAGAGGCCGCCCCGCGC c.1860
E E M R A L R S A R A P S P S E A A P R p.620
. . . . . . g.103286
CGCCCGGAAGCCACCGCGGCCCCCCTCACTCCTAGAGGAAGGGAGCACCGCGAGGCTCAC c.1920
R P E A T A A P L T P R G R E H R E A H p.640
. . . . | 17 . g.103445
GGCAGGGCCCTGGCGCCGGGCAGGGCGAGCCTCGGAAGCCGCCTGGAG | GACGTGCTGTGG c.1980
G R A L A P G R A S L G S R L E | D V L W p.660
. . . . . g.103499
CTGCAGGAGGTCTCCAACCTGTCAGAGTGGCTGAGTCCCAGCCCTGGGCCCTGA c.2034
L Q E V S N L S E W L S P S P G P X p.677
. . . . . . g.103559
gccgggtccccttccgcaagcgcccaccgatccggaggctgcgggcagccgttatcccgt c.*60
. . . . . . g.103619
ggtttaataaagctgccgcgcgctcaccaagtcctcttccgcgtctgcttccgcgtcggg c.*120
. . . . . . g.103679
cccgggcggggcggggcggggcgtggagccgcgccgcggcctgacgtcacccacacctcc c.*180
. . . . . . g.103739
ctgggactgcgtcactggtgcgcgccgcgggtcagggcgcaatggcggcgctgggcgggg c.*240
. . . . g.103781
atgggctgcgactgctgtcggtgtcgcggccggagcggccgc c.*282
(downstream sequence)
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