(used for variant description)
(last modified December 15, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_198253.2 in the TERT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009265.1, covering TERT transcript NM_198253.2.
(upstream sequence)
. . . . . g.5058
caggcagcgctgcgtcctgctgcgcacgtgggaagccctggccccggccacccccgcg c.-1
. . . . . . g.5118
ATGCCGCGCGCTCCCCGCTGCCGAGCCGTGCGCTCCCTGCTGCGCAGCCACTACCGCGAG c.60
M P R A P R C R A V R S L L R S H Y R E p.20
. . . . . . g.5178
GTGCTGCCGCTGGCCACGTTCGTGCGGCGCCTGGGGCCCCAGGGCTGGCGGCTGGTGCAG c.120
V L P L A T F V R R L G P Q G W R L V Q p.40
. . . . . . g.5238
CGCGGGGACCCGGCGGCTTTCCGCGCGCTGGTGGCCCAGTGCCTGGTGTGCGTGCCCTGG c.180
R G D P A A F R A L V A Q C L V C V P W p.60
. . . | 02 . . g.5402
GACGCACGGCCGCCCCCCGCCGCCCCCTCCTTCCGCCAG | GTGTCCTGCCTGAAGGAGCTG c.240
D A R P P P A A P S F R Q | V S C L K E L p.80
. . . . . . g.5462
GTGGCCCGAGTGCTGCAGAGGCTGTGCGAGCGCGGCGCGAAGAACGTGCTGGCCTTCGGC c.300
V A R V L Q R L C E R G A K N V L A F G p.100
. . . . . . g.5522
TTCGCGCTGCTGGACGGGGCCCGCGGGGGCCCCCCCGAGGCCTTCACCACCAGCGTGCGC c.360
F A L L D G A R G G P P E A F T T S V R p.120
. . . . . . g.5582
AGCTACCTGCCCAACACGGTGACCGACGCACTGCGGGGGAGCGGGGCGTGGGGGCTGCTG c.420
S Y L P N T V T D A L R G S G A W G L L p.140
. . . . . . g.5642
CTGCGCCGCGTGGGCGACGACGTGCTGGTTCACCTGCTGGCACGCTGCGCGCTCTTTGTG c.480
L R R V G D D V L V H L L A R C A L F V p.160
. . . . . . g.5702
CTGGTGGCTCCCAGCTGCGCCTACCAGGTGTGCGGGCCGCCGCTGTACCAGCTCGGCGCT c.540
L V A P S C A Y Q V C G P P L Y Q L G A p.180
. . . . . . g.5762
GCCACTCAGGCCCGGCCCCCGCCACACGCTAGTGGACCCCGAAGGCGTCTGGGATGCGAA c.600
A T Q A R P P P H A S G P R R R L G C E p.200
. . . . . . g.5822
CGGGCCTGGAACCATAGCGTCAGGGAGGCCGGGGTCCCCCTGGGCCTGCCAGCCCCGGGT c.660
R A W N H S V R E A G V P L G L P A P G p.220
. . . . . . g.5882
GCGAGGAGGCGCGGGGGCAGTGCCAGCCGAAGTCTGCCGTTGCCCAAGAGGCCCAGGCGT c.720
A R R R G G S A S R S L P L P K R P R R p.240
. . . . . . g.5942
GGCGCTGCCCCTGAGCCGGAGCGGACGCCCGTTGGGCAGGGGTCCTGGGCCCACCCGGGC c.780
G A A P E P E R T P V G Q G S W A H P G p.260
. . . . . . g.6002
AGGACGCGTGGACCGAGTGACCGTGGTTTCTGTGTGGTGTCACCTGCCAGACCCGCCGAA c.840
R T R G P S D R G F C V V S P A R P A E p.280
. . . . . . g.6062
GAAGCCACCTCTTTGGAGGGTGCGCTCTCTGGCACGCGCCACTCCCACCCATCCGTGGGC c.900
E A T S L E G A L S G T R H S H P S V G p.300
. . . . . . g.6122
CGCCAGCACCACGCGGGCCCCCCATCCACATCGCGGCCACCACGTCCCTGGGACACGCCT c.960
R Q H H A G P P S T S R P P R P W D T P p.320
. . . . . . g.6182
TGTCCCCCGGTGTACGCCGAGACCAAGCACTTCCTCTACTCCTCAGGCGACAAGGAGCAG c.1020
C P P V Y A E T K H F L Y S S G D K E Q p.340
. . . . . . g.6242
CTGCGGCCCTCCTTCCTACTCAGCTCTCTGAGGCCCAGCCTGACTGGCGCTCGGAGGCTC c.1080
L R P S F L L S S L R P S L T G A R R L p.360
. . . . . . g.6302
GTGGAGACCATCTTTCTGGGTTCCAGGCCCTGGATGCCAGGGACTCCCCGCAGGTTGCCC c.1140
V E T I F L G S R P W M P G T P R R L P p.380
. . . . . . g.6362
CGCCTGCCCCAGCGCTACTGGCAAATGCGGCCCCTGTTTCTGGAGCTGCTTGGGAACCAC c.1200
R L P Q R Y W Q M R P L F L E L L G N H p.400
. . . . . . g.6422
GCGCAGTGCCCCTACGGGGTGCTCCTCAAGACGCACTGCCCGCTGCGAGCTGCGGTCACC c.1260
A Q C P Y G V L L K T H C P L R A A V T p.420
. . . . . . g.6482
CCAGCAGCCGGTGTCTGTGCCCGGGAGAAGCCCCAGGGCTCTGTGGCGGCCCCCGAGGAG c.1320
P A A G V C A R E K P Q G S V A A P E E p.440
. . . . . . g.6542
GAGGACACAGACCCCCGTCGCCTGGTGCAGCTGCTCCGCCAGCACAGCAGCCCCTGGCAG c.1380
E D T D P R R L V Q L L R Q H S S P W Q p.460
. . . . . . g.6602
GTGTACGGCTTCGTGCGGGCCTGCCTGCGCCGGCTGGTGCCCCCAGGCCTCTGGGGCTCC c.1440
V Y G F V R A C L R R L V P P G L W G S p.480
. . . . . . g.6662
AGGCACAACGAACGCCGCTTCCTCAGGAACACCAAGAAGTTCATCTCCCTGGGGAAGCAT c.1500
R H N E R R F L R N T K K F I S L G K H p.500
. . . . . . g.6722
GCCAAGCTCTCGCTGCAGGAGCTGACGTGGAAGATGAGCGTGCGGGACTGCGCTTGGCTG c.1560
A K L S L Q E L T W K M S V R D C A W L p.520
. | 03 . . . . . g.17470
CGCAGGAGCCCAG | GGGTTGGCTGTGTTCCGGCCGCAGAGCACCGTCTGCGTGAGGAGATC c.1620
R R S P G | V G C V P A A E H R L R E E I p.540
. . . . . . g.17530
CTGGCCAAGTTCCTGCACTGGCTGATGAGTGTGTACGTCGTCGAGCTGCTCAGGTCTTTC c.1680
L A K F L H W L M S V Y V V E L L R S F p.560
. . . . . . g.17590
TTTTATGTCACGGAGACCACGTTTCAAAAGAACAGGCTCTTTTTCTACCGGAAGAGTGTC c.1740
F Y V T E T T F Q K N R L F F Y R K S V p.580
. . | 04 . . . g.19740
TGGAGCAAGTTGCAAAGCATTGGAATCAG | ACAGCACTTGAAGAGGGTGCAGCTGCGGGAG c.1800
W S K L Q S I G I R | Q H L K R V Q L R E p.600
. . . . . . g.19800
CTGTCGGAAGCAGAGGTCAGGCAGCATCGGGAAGCCAGGCCCGCCCTGCTGACGTCCAGA c.1860
L S E A E V R Q H R E A R P A L L T S R p.620
. . . . . . g.19860
CTCCGCTTCATCCCCAAGCCTGACGGGCTGCGGCCGATTGTGAACATGGACTACGTCGTG c.1920
L R F I P K P D G L R P I V N M D Y V V p.640
. . . | 05 . . . g.20607
GGAGCCAGAACGTTCCGCAGAGAAAAGAGG | GCCGAGCGTCTCACCTCGAGGGTGAAGGCA c.1980
G A R T F R R E K R | A E R L T S R V K A p.660
. . . . . . g.20667
CTGTTCAGCGTGCTCAACTACGAGCGGGCGCGGCGCCCCGGCCTCCTGGGCGCCTCTGTG c.2040
L F S V L N Y E R A R R P G L L G A S V p.680
. . . . . . g.20727
CTGGGCCTGGACGATATCCACAGGGCCTGGCGCACCTTCGTGCTGCGTGTGCGGGCCCAG c.2100
L G L D D I H R A W R T F V L R V R A Q p.700
. . . | 06 . . . g.21281
GACCCGCCGCCTGAGCTGTACTTTGTCAAG | GTGGATGTGACGGGCGCGTACGACACCATC c.2160
D P P P E L Y F V K | V D V T G A Y D T I p.720
. . . . . . g.21341
CCCCAGGACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGC c.2220
P Q D R L T E V I A S I I K P Q N T Y C p.740
. . . . . . g.21401
GTGCGTCGGTATGCCGTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAGGCCTTCAAG c.2280
V R R Y A V V Q K A A H G H V R K A F K p.760
| 07 . . . . . . g.27821
AGCCAC | GTCTCTACCTTGACAGACCTCCAGCCGTACATGCGACAGTTCGTGGCTCACCTG c.2340
S H | V S T L T D L Q P Y M R Q F V A H L p.780
. . . . | 08 . . g.28861
CAGGAGACCAGCCCGCTGAGGGATGCCGTCGTCATCGAGCAG | AGCTCCTCCCTGAATGAG c.2400
Q E T S P L R D A V V I E Q | S S S L N E p.800
. . . . . . g.28921
GCCAGCAGTGGCCTCTTCGACGTCTTCCTACGCTTCATGTGCCACCACGCCGTGCGCATC c.2460
A S S G L F D V F L R F M C H H A V R I p.820
| 09 . . . . . g.31466
AGGGGCAA | GTCCTACGTCCAGTGCCAGGGGATCCCGCAGGGCTCCATCCTCTCCACGCTG c.2520
R G K | S Y V Q C Q G I P Q G S I L S T L p.840
. . . . . . g.31526
CTCTGCAGCCTGTGCTACGGCGACATGGAGAACAAGCTGTTTGCGGGGATTCGGCGGGAC c.2580
L C S L C Y G D M E N K L F A G I R R D p.860
| 10 . . . . . . g.33570
GG | GCTGCTCCTGCGTTTGGTGGATGATTTCTTGTTGGTGACACCTCACCTCACCCACGCG c.2640
G | L L L R L V D D F L L V T P H L T H A p.880
. | 11 . . . . . g.35501
AAAACCTTCCTCAG | GACCCTGGTCCGAGGTGTCCCTGAGTATGGCTGCGTGGTGAACTTG c.2700
K T F L R | T L V R G V P E Y G C V V N L p.900
. . . . . . g.35561
CGGAAGACAGTGGTGAACTTCCCTGTAGAAGACGAGGCCCTGGGTGGCACGGCTTTTGTT c.2760
R K T V V N F P V E D E A L G G T A F V p.920
. . . . . . g.35621
CAGATGCCGGCCCACGGCCTATTCCCCTGGTGCGGCCTGCTGCTGGATACCCGGACCCTG c.2820
Q M P A H G L F P W C G L L L D T R T L p.940
. . | 12 . . . . g.39484
GAGGTGCAGAGCGACTACTCCAG | CTATGCCCGGACCTCCATCAGAGCCAGTCTCACCTTC c.2880
E V Q S D Y S S | Y A R T S I R A S L T F p.960
. . . . . . g.39544
AACCGCGGCTTCAAGGCTGGGAGGAACATGCGTCGCAAACTCTTTGGGGTCTTGCGGCTG c.2940
N R G F K A G R N M R R K L F G V L R L p.980
. . . | 13 . . . g.41418
AAGTGTCACAGCCTGTTTCTGGATTTGCAG | GTGAACAGCCTCCAGACGGTGTGCACCAAC c.3000
K C H S L F L D L Q | V N S L Q T V C T N p.1000
. . . | 14 . . . g.44664
ATCTACAAGATCCTCCTGCTGCAGGCGTACAG | GTTTCACGCATGTGTGCTGCAGCTCCCA c.3060
I Y K I L L L Q A Y R | F H A C V L Q L P p.1020
. . . . . . g.44724
TTTCATCAGCAAGTTTGGAAGAACCCCACATTTTTCCTGCGCGTCATCTCTGACACGGCC c.3120
F H Q Q V W K N P T F F L R V I S D T A p.1040
. . . | 15. . . g.45565
TCCCTCTGCTACTCCATCCTGAAAGCCAAGAACGCAG | GGATGTCGCTGGGGGCCAAGGGC c.3180
S L C Y S I L K A K N A G | M S L G A K G p.1060
. . . . . . g.45625
GCCGCCGGCCCTCTGCCCTCCGAGGCCGTGCAGTGGCTGTGCCACCAAGCATTCCTGCTC c.3240
A A G P L P S E A V Q W L C H Q A F L L p.1080
. . . . . | 16 . g.46221
AAGCTGACTCGACACCGTGTCACCTACGTGCCACTCCTGGGGTCACTCAGGACAG | CCCAG c.3300
K L T R H R V T Y V P L L G S L R T A | Q p.1100
. . . . . . g.46281
ACGCAGCTGAGTCGGAAGCTCCCGGGGACGACGCTGACTGCCCTGGAGGCCGCAGCCAAC c.3360
T Q L S R K L P G T T L T A L E A A A N p.1120
. . . g.46320
CCGGCACTGCCCTCAGACTTCAAGACCATCCTGGACTGA c.3399
P A L P S D F K T I L D X p.1132
. . . . . . g.46380
tggccacccgcccacagccaggccgagagcagacaccagcagccctgtcacgccgggctc c.*60
. . . . . . g.46440
tacgtcccagggagggaggggcggcccacacccaggcccgcaccgctgggagtctgaggc c.*120
. . . . . . g.46500
ctgagtgagtgtttggccgaggcctgcatgtccggctgaaggctgagtgtccggctgagg c.*180
. . . . . . g.46560
cctgagcgagtgtccagccaagggctgagtgtccagcacacctgccgtcttcacttcccc c.*240
. . . . . . g.46620
acaggctggcgctcggctccaccccagggccagcttttcctcaccaggagcccggcttcc c.*300
. . . . . . g.46680
actccccacataggaatagtccatccccagattcgccattgttcacccctcgccctgccc c.*360
. . . . . . g.46740
tcctttgccttccacccccaccatccaggtggagaccctgagaaggaccctgggagctct c.*420
. . . . . . g.46800
gggaatttggagtgaccaaaggtgtgccctgtacacaggcgaggaccctgcacctggatg c.*480
. . . . . . g.46860
ggggtccctgtgggtcaaattggggggaggtgctgtgggagtaaaatactgaatatatga c.*540
. . g.46881
gtttttcagttttgaaaaaaa c.*561
(downstream sequence)
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