(used for variant description)
(last modified October 26, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_016434.3 in the RTEL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering RTEL1 transcript NM_016434.3.
(upstream sequence)
. . . . g.5047
agtcagccctgctgccagccagtgccgggtgctggggactcagggag c.-781
. . . . . . g.5107
gcccgccgggaccactgcgggacagtgagccgagcagaagctggaacgcaggagaggaag c.-721
. . . . . . g.5167
gagagggggcggtcagggctctcaggagccgggtcctgggcaaggcgcagccgttttcaa c.-661
. . . . . . g.5227
attttcaggaaagcggtcggctcacactcgagcagtaaaaagatgcctctggggaggagg c.-601
. . . . . . g.5287
cccgtgcagctctccgggcaatggtggtggctcggcctagagaggcggtagtggaacgca c.-541
. . . . . . g.5347
gaccctggtgggggaatgacatcaagggaggagacgggcgggaccccagatttctgcctg c.-481
. . . . . . g.5407
tgggcgatggaagtgaggttcactggccagcggagccggacacagaacgcgcaaaacgcc c.-421
. . . . . . g.5467
gtgtaggcctggaggagccgaagagcaggcggaccccctccgcgggggaacagtttccgc c.-361
. . . . . . g.5527
cgggagcacaaagcaacggaccggaagtggggggcggaagtgcagtgggctcagcgccga c.-301
. . . . . . g.5587
ctgcgcgcctctgcccgcgaaaactctgagctggctgacagctggggacgggtggcggcc c.-241
. . . . . . g.5647
ctcgactggagtcggttgagttcctgagggaccccggttctggaaggttcgccgcggaga c.-181
. | 02 . . . . g.6473
caagtgagca | gtctgtgccatagggattctcgaagagaacagcgttgtgtcccagtgcac c.-121
. . . . . . g.6533
atgctcgcatcgcttaccaggagtgcccgagaccctaagatgttcggagtggttttttcg c.-61
. . . . . . g.6593
cacagacccgaatagcctgcccctcagccacgctctgtgcccttctgagaacaggctgat c.-1
. . . . . . g.6653
ATGCCCAAGATAGTCCTGAATGGTGTGACCGTAGACTTCCCTTTCCAGCCCTACAAATGC c.60
M P K I V L N G V T V D F P F Q P Y K C p.20
. . . . | 03 . . g.8506
CAACAGGAGTACATGACCAAGGTCCTGGAATGTCTGCAGCAG | AAGGTGAATGGCATCCTG c.120
Q Q E Y M T K V L E C L Q Q | K V N G I L p.40
. . . . . . g.8566
GAGAGCCCTACGGGTACAGGGAAGACGCTGTGCCTGCTGTGCACCACGCTGGCCTGGCGA c.180
E S P T G T G K T L C L L C T T L A W R p.60
. . . . . . g.8626
GAACACCTCCGAGACGGCATCTCTGCCCGCAAGATTGCCGAGAGGGCGCAAGGAGAGCTT c.240
E H L R D G I S A R K I A E R A Q G E L p.80
. . . . . . g.8686
TTCCCGGATCGGGCCTTGTCATCCTGGGGCAACGCTGCTGCTGCTGCTGGAGACCCCATA c.300
F P D R A L S S W G N A A A A A G D P I p.100
| 04 . . . . . . g.9099
G | CTTGCTACACGGACATCCCAAAGATTATTTACGCCTCCAGGACCCACTCGCAACTCACA c.360
A | C Y T D I P K I I Y A S R T H S Q L T p.120
. . . | 05 . . . g.9761
CAGGTCATCAACGAGCTTCGGAACACCTCCTACCG | GCCTAAGGTGTGTGTGCTGGGCTCC c.420
Q V I N E L R N T S Y R | P K V C V L G S p.140
. . . . . | 06. g.10022
CGGGAGCAGCTGTGCATCCATCCTGAGGTGAAGAAACAAGAGAGTAACCATCTACAG | ATC c.480
R E Q L C I H P E V K K Q E S N H L Q | I p.160
. . . . . | 07 g.13196
CACTTGTGCCGTAAGAAGGTGGCAAGTCGCTCCTGTCATTTCTACAACAACGTAGAAG | AA c.540
H L C R K K V A S R S C H F Y N N V E E | p.180
. . . . . . g.13256
AAAAGCCTGGAGCAGGAGCTGGCCAGCCCCATCCTGGACATTGAGGACTTGGTCAAGAGC c.600
K S L E Q E L A S P I L D I E D L V K S p.200
. | 08 . . . . . g.14705
GGAAGCAAGCACAG | GGTGTGCCCTTACTACCTGTCCCGGAACCTGAAGCAGCAAGCCGAC c.660
G S K H R | V C P Y Y L S R N L K Q Q A D p.220
. . . | 09 . . g.19767
ATCATATTCATGCCGTACAATTACTTGTTGGATGCCAAG | AGCCGCAGAGCACACAACATT c.720
I I F M P Y N Y L L D A K | S R R A H N I p.240
. . . . | 10 . . g.21145
GACCTGAAGGGGACAGTCGTGATCTTTGACGAAGCTCACAACGTG | GAGAAGATGTGTGAA c.780
D L K G T V V I F D E A H N V | E K M C E p.260
. . . . . . g.21205
GAATCGGCATCCTTTGACCTGACTCCCCATGACCTGGCTTCAGGACTGGACGTCATAGAC c.840
E S A S F D L T P H D L A S G L D V I D p.280
. . . . . . g.21265
CAGGTGCTGGAGGAGCAGACCAAGGCAGCGCAGCAGGGTGAGCCCCACCCGGAGTTCAGC c.900
Q V L E E Q T K A A Q Q G E P H P E F S p.300
. | 11 . . . | 12 g.25460
GCGGACTCCCCCAGCCCAG | GGCTGAACATGGAGCTGGAAGACATTGCAAAGCTGAAGA | TG c.960
A D S P S P G | L N M E L E D I A K L K M | p.320
. . . . . . g.25520
ATCCTGCTGCGCCTGGAGGGGGCCATCGATGCTGTTGAGCTGCCTGGAGACGACAGCGGT c.1020
I L L R L E G A I D A V E L P G D D S G p.340
. | 13. . . . . g.27082
GTCACCAAGCCAGGGAG | CTACATCTTTGAGCTGTTTGCTGAAGCCCAGATCACGTTTCAG c.1080
V T K P G S | Y I F E L F A E A Q I T F Q p.360
. . . . . | 14 . g.27859
ACCAAGGGCTGCATCCTGGACTCGCTGGACCAGATCATCCAGCACCTGGCAGGAC | GTGCT c.1140
T K G C I L D S L D Q I I Q H L A G R | A p.380
. . . . . | 15 . g.32722
GGAGTGTTCACCAACACGGCCGGACTGCAGAAGCTGGCGGACATTATCCAG | ATTGTGTTC c.1200
G V F T N T A G L Q K L A D I I Q | I V F p.400
. . . . . . g.32782
AGTGTGGACCCCTCCGAGGGCAGCCCTGGTTCCCCAGCAGGGCTGGGGGCCTTACAGTCC c.1260
S V D P S E G S P G S P A G L G A L Q S p.420
| 16 . . . . . . g.33035
TATAAG | GTGCACATCCATCCTGATGCTGGTCACCGGAGGACGGCTCAGCGGTCTGATGCC c.1320
Y K | V H I H P D A G H R R T A Q R S D A p.440
. . | 17 . . . g.34860
TGGAGCACCACTGCAGCCAGAAAGCGAG | GGAAGGTGCTGAGCTACTGGTGCTTCAGTCCC c.1380
W S T T A A R K R G | K V L S Y W C F S P p.460
. . . . . . g.34920
GGCCACAGCATGCACGAGCTGGTCCGCCAGGGCGTCCGCTCCCTCATCCTTACCAGCGGC c.1440
G H S M H E L V R Q G V R S L I L T S G p.480
. . . . | 18 . . g.35146
ACGCTGGCCCCGGTGTCCTCCTTTGCTCTGGAGATGCAGAT | CCCTTTCCCAGTCTGCCTG c.1500
T L A P V S S F A L E M Q I | P F P V C L p.500
. . . . . . g.35206
GAGAACCCACACATCATCGACAAGCACCAGATCTGGGTGGGGGTCGTCCCCAGAGGCCCC c.1560
E N P H I I D K H Q I W V G V V P R G P p.520
. . . | 19 . . . g.35354
GATGGAGCCCAGTTGAGCTCCGCGTTTGACAGACG | GTTTTCCGAGGAGTGCTTATCCTCC c.1620
D G A Q L S S A F D R R | F S E E C L S S p.540
. | 20 . . . . . g.35535
CTGGGGAAGGCTCTGG | GCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTC c.1680
L G K A L G | N I A R V V P Y G L L I F F p.560
. . . . | 21 . . g.35736
CCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGG | GCCCGCGACTTGGCCAGG c.1740
P S Y P V M E K S L E F W R | A R D L A R p.580
. . . . . . g.35796
AAGATGGAGGCGCTGAAGCCGCTGTTTGTGGAGCCCAGGAGCAAAGGCAGCTTCTCCGAG c.1800
K M E A L K P L F V E P R S K G S F S E p.600
| 22 . . . . . . g.36305
| ACCATCAGTGCTTACTATGCAAGGGTTGCCGCCCCTGGGTCCACCGGCGCCACCTTCCTG c.1860
| T I S A Y Y A R V A A P G S T G A T F L p.620
. | 23 . . . . g.36734
GCGGTCTGCCGGGGCAAG | GCCAGCGAGGGGCTGGACTTCTCAGACACGAATGGCCGTGGT c.1920
A V C R G K | A S E G L D F S D T N G R G p.640
. . . . . . g.36794
GTGATTGTCACGGGCCTCCCGTACCCCCCACGCATGGACCCCCGGGTTGTCCTCAAGATG c.1980
V I V T G L P Y P P R M D P R V V L K M p.660
. . . . | 24 . . g.36955
CAGTTCCTGGATGAGATGAAGGGCCAGGGTGGGGCTGGGGGCCAG | TTCCTCTCTGGGCAG c.2040
Q F L D E M K G Q G G A G G Q | F L S G Q p.680
. . . . . . g.37015
GAGTGGTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGG c.2100
E W Y R Q Q A S R A V N Q A I G R V I R p.700
. . . . | 25 . . g.37296
CACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAG | GTTCGCCTTTGCCGACGCA c.2160
H R Q D Y G A V F L C D H R | F A F A D A p.720
. . . . . . g.37356
AGAGCCCAACTGCCCTCCTGGGTGCGTCCCCACGTCAGGGTGTATGACAACTTTGGCCAT c.2220
R A Q L P S W V R P H V R V Y D N F G H p.740
. . . . | 26 . . g.37499
GTCATCCGAGACGTGGCCCAGTTCTTCCGTGTTGCCGAGCGAACT | ATGCCAGCGCCGGCC c.2280
V I R D V A Q F F R V A E R T | M P A P A p.760
. . . . . . g.37559
CCCCGGGCTACAGCACCCAGTGTGCGTGGAGAAGATGCTGTCAGCGAGGCCAAGTCGCCT c.2340
P R A T A P S V R G E D A V S E A K S P p.780
. . . . . . g.37619
GGCCCCTTCTTCTCCACCAGGAAAGCTAAGAGTCTGGACCTGCATGTCCCCAGCCTGAAG c.2400
G P F F S T R K A K S L D L H V P S L K p.800
. | 27 . . . . . g.38042
CAGAGGTCCTCAG | GGTCACCAGCTGCCGGGGACCCCGAGAGTAGCCTGTGTGTGGAGTAT c.2460
Q R S S G | S P A A G D P E S S L C V E Y p.820
. . . . . . g.38102
GAGCAGGAGCCAGTTCCTGCCCGGCAGAGGCCCAGGGGGCTGCTGGCCGCCCTGGAGCAC c.2520
E Q E P V P A R Q R P R G L L A A L E H p.840
. . . | 28 . . . g.38956
AGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAG | GCCCACAGCTGCTCCACCCTGTCC c.2580
S E Q R A G S P G E E Q | A H S C S T L S p.860
. . . . . . g.39016
CTCCTGTCTGAGAAGAGGCCGGCAGAAGAACCGCGAGGAGGGAGGAAGAAGATCCGGCTG c.2640
L L S E K R P A E E P R G G R K K I R L p.880
. | 29 . . . . . g.40043
GTCAGCCACCCG | GAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATG c.2700
V S H P | E E P V A G A Q T D R A K L F M p.900
. . . . . . g.40103
GTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAG c.2760
V A V K Q E L S Q A N F A T F T Q A L Q p.920
. . . . . . g.40163
GACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCT c.2820
D Y K G S D D F A A L A A C L G P L F A p.940
. . . | 30 . . . g.40362
GAGGACCCCAAGAAGCACAACCTGCTCCAAG | GCTTCTACCAGTTTGTGCGGCCCCACCAT c.2880
E D P K K H N L L Q G | F Y Q F V R P H H p.960
. . . . . . g.40422
AAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCT c.2940
K Q Q F E E V C I Q L T G R G C G Y R P p.980
. . . . . | 31 . g.41570
GAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCCCACTG | GAAGAACG c.3000
E H S I P R R Q R A Q P V L D P T G | R T p.1000
. . . . . . g.41630
GCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAG c.3060
A P D P K L T V S T A A A Q Q L D P Q E p.1020
. . . . | 32 . g.41942
CACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAG | GAGACCCTGGC c.3120
H L N Q G R P H L S P R P P P T G | D P G p.1040
. . . . . . g.42002
AGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTG c.3180
S Q P Q W G S G V P R A G K Q G Q H A V p.1060
. . . . . . g.42062
AGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTG c.3240
S A Y L A D A R R A L G S A G C S Q L L p.1080
. . . . . . g.42122
GCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCC c.3300
A A L T A Y K Q D D D L D K V L A V L A p.1100
. . . . | 33 . . g.42273
GCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACA | GGTTCAGCATGTTTGTG c.3360
A L T T A K P E D F P L L H R | F S M F V p.1120
. . . . . . g.42333
CGTCCACACCACAAGCAGCGCTTCTCACAGACGTGCACAGACCTGACCGGCCGGCCCTAC c.3420
R P H H K Q R F S Q T C T D L T G R P Y p.1140
. . . . . . g.42393
CCGGGCATGGAGCCACCGGGACCCCAGGAGGAGAGGCTTGCCGTGCCTCCTGTGCTTACC c.3480
P G M E P P G P Q E E R L A V P P V L T p.1160
. | 34 . . . . g.42559
CACAGGGCTCCCCAACCAG | GCCCCTCACGGTCCGAGAAGACCGGGAAGACCCAGAGCAAG c.3540
H R A P Q P G | P S R S E K T G K T Q S K p.1180
. . . . . . g.42619
ATCTCGTCCTTCCTTAGACAGAGGCCAGCAGGGACTGTGGGGGCGGGCGGTGAGGATGCA c.3600
I S S F L R Q R P A G T V G A G G E D A p.1200
. . . . . | 35 . g.42976
GGTCCCAGCCAGTCCTCAGGACCTCCCCACGGGCCTGCAGCATCTGAGTGGG | GCCTCTAG c.3660
G P S Q S S G P P H G P A A S E W G | L X p.1219
. . . . . . g.43036
gatgtgcccagcctgccacaccgcctccaggaagcagagcgtcatgcaggtcttctggcc c.*60
. . . . . . g.43096
agagccccagtgagtgcccacggaggcccccagcacacccaacgtggcttgatcacctgc c.*120
. . . . . . g.43156
ctgtccagctctggtgggccaagaacccacccaacagaataggccagcccatgccagccg c.*180
. . . . . . g.43216
gcttggcccgctgcaggcctcaggcaggcggggcccatggttggtccctgcggtgggacc c.*240
. . . . . . g.43276
ggatctgggcctgcctctgagaagccctgagctaccttggggtctggggtgggtttctgg c.*300
. . . . . . g.43336
gaaagtgcttccccagaacttccctggctcctggcctgtgagtggtgccacaggggcacc c.*360
. . . . . . g.43396
ccagctgagcccctcaccgggaaggaggagacccccgtgggcacgtgtccacttttaatc c.*420
. . . . g.43444
aggggacagggctctctaataaagctgctggcagtgcccaggacggtg c.*468
(downstream sequence)
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