(used for variant description)
(last modified May 28, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_016111.3 in the TELO2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering TELO2 transcript NM_016111.3.
(upstream sequence)
. . . . . g.5051
agcgcaggcgcagatgcgccctcccgcctggcgtcctccgcagattcgcgc c.-241
. . . . . . g.5111
tgagaggcccgcggagacccgccccagaggctcaagaaaacccgcgggagcctcgcccgg c.-181
. . . . . . g.5171
acccaggaactcgtgctcggggccaaccggctgggccgcgatcgcgtttcgtccggggcc c.-121
. . . . . . g.5231
gcggcggccgtggggaatcggctgcagcgaatcggtggcgcgcggcgcctgagcgcgctg c.-61
. . . | 02 . . . g.5931
cagtcacccgggagccgggtccag | gtcgtcttcccgtgacgcccagatctgtcctgcagg c.-1
. . . . . . g.5991
ATGGAGCCAGCACCCTCAGAGGTTCGACTCGCCGTCCGGGAAGCCATTCATGCCCTCTCG c.60
M E P A P S E V R L A V R E A I H A L S p.20
. . . . . . g.6051
TCTTCGGAGGATGGCGGCCACATCTTCTGCACCCTGGAGTCCCTGAAGCGGTATCTCGGT c.120
S S E D G G H I F C T L E S L K R Y L G p.40
. . . . . . g.6111
GAGATGGAGCCTCCAGCGCTCCCGAGGGAGAAGGAGGAGTTTGCCTCGGCCCACTTCTCG c.180
E M E P P A L P R E K E E F A S A H F S p.60
. . . . . . g.6171
CCTGTCCTCAGATGTCTTGCCAGCAGGCTGAGCCCAGCCTGGCTGGAGCTGCTGCCCCAT c.240
P V L R C L A S R L S P A W L E L L P H p.80
. . . . . . g.6231
GGCCGCCTGGAGGAGCTGTGGGCCAGCTTCTTCCTGGAGGGCCCGGCGGACCAAGCCTTC c.300
G R L E E L W A S F F L E G P A D Q A F p.100
. . . | 03 . . . g.7020
CTGGTGTTGATGGAGACCATCGAGGGTGCTGCGGG | CCCCAGCTTCCGGCTGATGAAGATG c.360
L V L M E T I E G A A G | P S F R L M K M p.120
. . . . . . g.7080
GCGCGGCTGCTGGCCAGATTCCTGCGCGAGGGCCGGCTGGCAGTGCTGATGGAGGCGCAG c.420
A R L L A R F L R E G R L A V L M E A Q p.140
. . . . . . g.7140
TGTCGGCAGCAGACGCAGCCCGGCTTCATCCTGCTCCGGGAGACGCTGCTGGGCAAGGTG c.480
C R Q Q T Q P G F I L L R E T L L G K V p.160
. . . . . . g.7200
GTGGCCCTGCCCGATCACCTGGGCAACCGCCTGCAGCAGGAGAACTTGGCCGAGTTCTTC c.540
V A L P D H L G N R L Q Q E N L A E F F p.180
. . . . . . g.7260
CCCCAGAACTACTTCCGCCTGCTCGGCGAGGAGGTCGTCCGGGTGCTGCAGGCGGTTGTG c.600
P Q N Y F R L L G E E V V R V L Q A V V p.200
. | 04 . . . . . g.8732
GACTCTCTCCAAG | GTGGCCTGGATTCCTCCGTGTCCTTCGTGTCTCAGGTCCTTGGGAAA c.660
D S L Q G | G L D S S V S F V S Q V L G K p.220
. . | 05 . . . . g.9048
GCCTGTGTCCACGGGAGGCAGC | AGGAGATCCTGGGCGTGCTGGTACCCCGGCTGGCAGCG c.720
A C V H G R Q Q | E I L G V L V P R L A A p.240
. . . . . . g.9108
CTCACCCAGGGCAGCTACCTGCACCAGCGCGTCTGCTGGCGCCTGGTGGAGCAAGTGCCG c.780
L T Q G S Y L H Q R V C W R L V E Q V P p.260
. . . . . | 06 . g.10890
GACCGGGCCATGGAGGCTGTGCTGACCGGGCTGGTGGAGGCCGCACTGGG | GCCTGAGGTC c.840
D R A M E A V L T G L V E A A L G | P E V p.280
. . . . . . g.10950
CTTTCGAGACTGCTGGGGAACCTGGTGGTGAAGAACAAGAAGGCCCAGTTTGTGATGACC c.900
L S R L L G N L V V K N K K A Q F V M T p.300
. . . | 07 . . . g.11772
CAGAAGCTTCTGTTCTTACAGTCCCGGCTCACG | ACGCCCATGCTGCAGAGCCTGCTGGGC c.960
Q K L L F L Q S R L T | T P M L Q S L L G p.320
. . . . | 08 . . g.12014
CATCTGGCCATGGACAGCCAGCGGCGCCCGCTCCTGCTGCAG | GTGCTGAAGGAGCTGTTG c.1020
H L A M D S Q R R P L L L Q | V L K E L L p.340
. . . . . . g.12074
GAGACGTGGGGCAGCAGCAGTGCCATCCGCCACACTCCCCTGCCGCAGCAGCGCCACGTC c.1080
E T W G S S S A I R H T P L P Q Q R H V p.360
. . . . . . g.12134
AGCAAGGCTGTCCTCATCTGCCTGGCGCAACTCGGGGAGCCGGAACTGCGGGACAGCCGG c.1140
S K A V L I C L A Q L G E P E L R D S R p.380
| 09 . . . . . . g.12268
GATG | AACTGCTGGCCAGCATGATGGCGGGCGTGAAGTGCCGCCTGGACAGTAGCCTGCCC c.1200
D E | L L A S M M A G V K C R L D S S L P p.400
. . . . . . g.12328
CCCGTGCGACGCCTGGGCATGATCGTGGCAGAGGTCGTTAGTGCCCGGATCCACCCCGAG c.1260
P V R R L G M I V A E V V S A R I H P E p.420
. . | 10 . . . . g.13108
GGGCCTCCCCTGAAATTCCAG | TACGAAGAGGATGAACTGAGCCTCGAGCTGCTGGCCTTG c.1320
G P P L K F Q | Y E E D E L S L E L L A L p.440
. . . . | 11 . . g.13331
GCCTCCCCCCAGCCTGCGGGTGACGGCGCCTCGGAGGCGGG | CACGTCCCTCGTTCCAGCC c.1380
A S P Q P A G D G A S E A G | T S L V P A p.460
. . . . . . g.13391
ACGGCAGAGCCCCCTGCAGAGACCCCCGCAGAGATCGTGGATGGCGGCGTCCCCCAAGCA c.1440
T A E P P A E T P A E I V D G G V P Q A p.480
. . . | 12 . . . g.13724
CAGCTGGCGGGCTCTGACTCGGACCTGGACAG | CGATGATGAGTTTGTCCCCTACGACATG c.1500
Q L A G S D S D L D S | D D E F V P Y D M p.500
. . . . . . g.13784
TCGGGGGACAGAGAGCTGAAGAGCAGCAAGGCTCCTGCCTACGTCCGGGACTGCGTGGAA c.1560
S G D R E L K S S K A P A Y V R D C V E p.520
| 13 . . . . . . g.14021
G | CCCTGACCACGTCTGAGGACATAGAGCGCTGGGAGGCAGCCCTGCGGGCCCTTGAGGGC c.1620
A | L T T S E D I E R W E A A L R A L E G p.540
. . . | 14 . . . g.14321
CTGGTCTACAGGAGCCCCACAGCCACTCGGGAG | GTGAGCGTGGAGCTGGCCAAGGTGCTT c.1680
L V Y R S P T A T R E | V S V E L A K V L p.560
. . . . . . g.14381
CTGCATCTGGAGGAGAAGACCTGTGTGGTGGGATTTGCAGGGCTGCGCCAGAGAGCCCTG c.1740
L H L E E K T C V V G F A G L R Q R A L p.580
. . . | 15 . . . g.14610
GTGGCCGTCACGGTCACAGACCCGGCCCCG | GTGGCCGACTATCTGACCTCACAGTTCTAT c.1800
V A V T V T D P A P | V A D Y L T S Q F Y p.600
. . . . | 16 . . g.17077
GCCCTCAACTACAGCCTCCGGCAGCGCATGGACATCCTGGAT | GTGCTGACTCTGGCTGCC c.1860
A L N Y S L R Q R M D I L D | V L T L A A p.620
. . . . . . g.17137
CAGGAGCTGTCTAGGCCTGGGTGCCTCGGGAGGACTCCCCAACCTGGCTCCCCAAGTCCC c.1920
Q E L S R P G C L G R T P Q P G S P S P p.640
. . . . . . g.17197
AACACCCCGTGCCTGCCAGAGGCAGCCGTCTCTCAGCCTGGCAGTGCCGTGGCGTCTGAC c.1980
N T P C L P E A A V S Q P G S A V A S D p.660
. . . . . | 17 . g.17893
TGGCGGGTGGTGGTGGAGGAGCGGATCAGAAGCAAGACCCAGCGGCTCTCCAAG | GGTGGC c.2040
W R V V V E E R I R S K T Q R L S K | G G p.680
. . . . . . g.17953
CCGAGGCAGGGCCCGGCAGGCAGCCCCAGCAGATTCAACTCCGTGGCCGGCCACTTCTTC c.2100
P R Q G P A G S P S R F N S V A G H F F p.700
. . | 18 . . . . g.18635
TTCCCCCTCCTTCAGCGCTTTGACAG | GCCTCTGGTGACCTTCGACCTCTTGGGAGAAGAC c.2160
F P L L Q R F D R | P L V T F D L L G E D p.720
. . . . . . g.18695
CAGCTGGTTCTCGGAAGGCTGGCGCACACCTTAGGGGCCCTGATGTGCCTGGCTGTTAAC c.2220
Q L V L G R L A H T L G A L M C L A V N p.740
| 19 . . . . . . g.19009
ACCACG | GTGGCTGTGGCCATGGGCAAGGCCCTGCTGGAATTCGTGTGGGCCCTTCGCTTC c.2280
T T | V A V A M G K A L L E F V W A L R F p.760
. | 20 . . . . . g.19299
CACATCGATGC | CTACGTGCGCCAGGGGCTGTTGTCGGCCGTCTCCTCCGTCCTGCTCAGC c.2340
H I D A | Y V R Q G L L S A V S S V L L S p.780
. . . . . . g.19359
CTGCCTGCTGCGCGCCTGCTGGAGGACCTGATGGACGAGCTGCTGGAAGCCCGGTCCTGG c.2400
L P A A R L L E D L M D E L L E A R S W p.800
| 21. . . . . . g.21532
CTGGCGG | ACGTGGCTGAGAAAGACCCGGACGAGGACTGCAGGACGCTGGCACTGAGGGCC c.2460
L A D | V A E K D P D E D C R T L A L R A p.820
. . . . . g.21586
CTGCTGCTTCTGCAGAGACTCAAGAACAGGCTCCTCCCACCCGCGTCTCCCTAG c.2514
L L L L Q R L K N R L L P P A S P X p.837
. . . . . . g.21646
tccctggaggcctccccaggaccaccctcgccgacagcaaggcaggcggctgagcagcgg c.*60
. . . . . . g.21706
cctggagcagcagagccaggctttgtagcgaggccaggtcttcggccgcatccggtacgg c.*120
. . . . . . g.21766
agagtgcagatgcaggaaggcccggcctgccgctatttatagtgcagccagtccgctaaa c.*180
. . . . . . g.21826
aatacactgggcctgggcactgcccgccgggacatggcagcctggacgtggggctggggc c.*240
. . . . . . g.21886
tgtgggcgctgctggcggggttgactcttccagtgagggcagaaccaggctggcaggagg c.*300
. . . . . . g.21946
ggaggacggtgtacctgctgctcagagcccccaaggctctcctctgagagccaccaagca c.*360
. . . . . . g.22006
ggacagagcagctcttgtcccaggtccctcgggctgagcgccgtgtcaccaggagaatag c.*420
. . . . . . g.22066
tgctcacagcccaggcagggtgtgtggctcctggatgggctcgtggggcgggatgggaca c.*480
. . . . g.22109
gggcacgggctctcagaaaataaactgctttattggaattaca c.*523
(downstream sequence)
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