(used for variant description)
(last modified October 16, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_020975.4 in the RET gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007489.1, covering RET transcript NM_020975.4.
(upstream sequence)
. g.5010
agtcccgcga c.-181
. . . . . . g.5070
ccgaagcagggcgcgcagcagcgctgagtgccccggaacgtgcgtcgcgcccccagtgtc c.-121
. . . . . . g.5130
cgtcgcgtccgccgcgccccgggcggggatggggcggccagactgagcgccgcacccgcc c.-61
. . . . . . g.5190
atccagacccgccggccctagccgcagtccctccagccgtggccccagcgcgcacgggcg c.-1
. . . . . . g.5250
ATGGCGAAGGCGACGTCCGGTGCCGCGGGGCTGCGTCTGCTGTTGCTGCTGCTGCTGCCG c.60
M A K A T S G A A G L R L L L L L L L P p.20
. | 02 . . . . . g.28437
CTGCTAGGCAAAG | TGGCATTGGGCCTCTACTTCTCGAGGGATGCTTACTGGGAGAAGCTG c.120
L L G K V | A L G L Y F S R D A Y W E K L p.40
. . . . . . g.28497
TATGTGGACCAGGCGGCCGGCACGCCCTTGCTGTACGTCCATGCCCTGCGGGACGCCCCT c.180
Y V D Q A A G T P L L Y V H A L R D A P p.60
. . . . . . g.28557
GAGGAGGTGCCCAGCTTCCGCCTGGGCCAGCATCTCTACGGCACGTACCGCACACGGCTG c.240
E E V P S F R L G Q H L Y G T Y R T R L p.80
. . . . . . g.28617
CATGAGAACAACTGGATCTGCATCCAGGAGGACACCGGCCTCCTCTACCTTAACCGGAGC c.300
H E N N W I C I Q E D T G L L Y L N R S p.100
. . . | 03. . . g.30296
CTGGACCATAGCTCCTGGGAGAAGCTCAGTGTCCGCA | ACCGCGGCTTTCCCCTGCTCACC c.360
L D H S S W E K L S V R N | R G F P L L T p.120
. . . . . . g.30356
GTCTACCTCAAGGTCTTCCTGTCACCCACATCCCTTCGTGAGGGCGAGTGCCAGTGGCCA c.420
V Y L K V F L S P T S L R E G E C Q W P p.140
. . . . . . g.30416
GGCTGTGCCCGCGTATACTTCTCCTTCTTCAACACCTCCTTTCCAGCCTGCAGCTCCCTC c.480
G C A R V Y F S F F N T S F P A C S S L p.160
. . . . . . g.30476
AAGCCCCGGGAGCTCTGCTTCCCAGAGACAAGGCCCTCCTTCCGCATTCGGGAGAACCGA c.540
K P R E L C F P E T R P S F R I R E N R p.180
. . . . . . g.30536
CCCCCAGGCACCTTCCACCAGTTCCGCCTGCTGCCTGTGCAGTTCTTGTGCCCCAACATC c.600
P P G T F H Q F R L L P V Q F L C P N I p.200
. . | 04 . . . . g.32918
AGCGTGGCCTACAGGCTCCTGGAGG | GTGAGGGTCTGCCCTTCCGCTGCGCCCCGGACAGC c.660
S V A Y R L L E G | E G L P F R C A P D S p.220
. . . . . . g.32978
CTGGAGGTGAGCACGCGCTGGGCCCTGGACCGCGAGCAGCGGGAGAAGTACGAGCTGGTG c.720
L E V S T R W A L D R E Q R E K Y E L V p.240
. . . . . . g.33038
GCCGTGTGCACCGTGCACGCCGGCGCGCGCGAGGAGGTGGTGATGGTGCCCTTCCCGGTG c.780
A V C T V H A G A R E E V V M V P F P V p.260
. . . . . . g.33098
ACCGTGTACGACGAGGACGACTCGGCGCCCACCTTCCCCGCGGGCGTCGACACCGCCAGC c.840
T V Y D E D D S A P T F P A G V D T A S p.280
. . | 05. . . . g.34340
GCCGTGGTGGAGTTCAAGCGGAAGGAG | GACACCGTGGTGGCCACGCTGCGTGTCTTCGAT c.900
A V V E F K R K E | D T V V A T L R V F D p.300
. . . . . . g.34400
GCAGACGTGGTACCTGCATCAGGGGAGCTGGTGAGGCGGTACACAAGCACGCTGCTCCCC c.960
A D V V P A S G E L V R R Y T S T L L P p.320
. . . . . . g.34460
GGGGACACCTGGGCCCAGCAGACCTTCCGGGTGGAACACTGGCCCAACGAGACCTCGGTC c.1020
G D T W A Q Q T F R V E H W P N E T S V p.340
. . . . | 06 . . g.36979
CAGGCCAACGGCAGCTTCGTGCGGGCGACCGTACATGACTATA | GGCTGGTTCTCAACCGG c.1080
Q A N G S F V R A T V H D Y R | L V L N R p.360
. . . . . . g.37039
AACCTCTCCATCTCGGAGAACCGCACCATGCAGCTGGCGGTGCTGGTCAATGACTCAGAC c.1140
N L S I S E N R T M Q L A V L V N D S D p.380
. . . . . . g.37099
TTCCAGGGCCCAGGAGCGGGCGTCCTCTTGCTCCACTTCAACGTGTCGGTGCTGCCGGTC c.1200
F Q G P G A G V L L L H F N V S V L P V p.400
. . . . . . g.37159
AGCCTGCACCTGCCCAGTACCTACTCCCTCTCCGTGAGCAGGAGGGCTCGCCGATTTGCC c.1260
S L H L P S T Y S L S V S R R A R R F A p.420
| 07 . . . . . . g.39195
CAG | ATCGGGAAAGTCTGTGTGGAAAACTGCCAGGCATTCAGTGGCATCAACGTCCAGTAC c.1320
Q | I G K V C V E N C Q A F S G I N V Q Y p.440
. . . . . . g.39255
AAGCTGCATTCCTCTGGTGCCAACTGCAGCACGCTAGGGGTGGTCACCTCAGCCGAGGAC c.1380
K L H S S G A N C S T L G V V T S A E D p.460
. . . . . . g.39315
ACCTCGGGGATCCTGTTTGTGAATGACACCAAGGCCCTGCGGCGGCCCAAGTGTGCCGAA c.1440
T S G I L F V N D T K A L R R P K C A E p.480
. . . . . . g.39375
CTTCACTACATGGTGGTGGCCACCGACCAGCAGACCTCTAGGCAGGCCCAGGCCCAGCTG c.1500
L H Y M V V A T D Q Q T S R Q A Q A Q L p.500
. . | 08 . . . . g.40068
CTTGTAACAGTGGAGGGGTCAT | ATGTGGCCGAGGAGGCGGGCTGCCCCCTGTCCTGTGCA c.1560
L V T V E G S Y | V A E E A G C P L S C A p.520
. . . . . . g.40128
GTCAGCAAGAGACGGCTGGAGTGTGAGGAGTGTGGCGGCCTGGGCTCCCCAACAGGCAGG c.1620
V S K R R L E C E E C G G L G S P T G R p.540
. . | 09 . . . g.40816
TGTGAGTGGAGGCAAGGAGATGGCAAAG | GGATCACCAGGAACTTCTCCACCTGCTCTCCC c.1680
C E W R Q G D G K G | I T R N F S T C S P p.560
. . . . . . g.40876
AGCACCAAGACCTGCCCCGACGGCCACTGCGATGTTGTGGAGACCCAAGACATCAACATT c.1740
S T K T C P D G H C D V V E T Q D I N I p.580
. | 10 . . . . g.41528
TGCCCTCAGGACTGCCTCC | GGGGCAGCATTGTTGGGGGACACGAGCCTGGGGAGCCCCGG c.1800
C P Q D C L R | G S I V G G H E P G E P R p.600
. . . . . . g.41588
GGGATTAAAGCTGGCTATGGCACCTGCAACTGCTTCCCTGAGGAGGAGAAGTGCTTCTGC c.1860
G I K A G Y G T C N C F P E E E K C F C p.620
. | 11 . . . . g.42452
GAGCCCGAAGACATCCAGG | ATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCC c.1920
E P E D I Q D | P L C D E L C R T V I A A p.640
. . . . . . g.42512
GCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTAC c.1980
A V L F S F I V S V L L S A F C I H C Y p.660
. . . . . . g.42572
CACAAGTTTGCCCACAAGCCACCCATCTCCTCAGCTGAGATGACCTTCCGGAGGCCCGCC c.2040
H K F A H K P P I S S A E M T F R R P A p.680
. . . . . . g.42632
CAGGCCTTCCCGGTCAGCTACTCCTCTTCCGGTGCCCGCCGGCCCTCGCTGGACTCCATG c.2100
Q A F P V S Y S S S G A R R P S L D S M p.700
. . . | 12 . . . g.44539
GAGAACCAGGTCTCCGTGGATGCCTTCAAGATCCTG | GAGGATCCAAAGTGGGAATTCCCT c.2160
E N Q V S V D A F K I L | E D P K W E F P p.720
. . . . . . g.44599
CGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAG c.2220
R K N L V L G K T L G E G E F G K V V K p.740
. . . . . . g.44659
GCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACGGTGGCCGTGAAGATGCTG c.2280
A T A F H L K G R A G Y T T V A V K M L p.760
| 13 . . . . . . g.46360
AAAG | AGAACGCCTCCCCGAGTGAGCTTCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAG c.2340
K E | N A S P S E L R D L L S E F N V L K p.780
. . . . . | 14 . g.47470
CAGGTCAACCACCCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATG | GCCCGCTC c.2400
Q V N H P H V I K L Y G A C S Q D G | P L p.800
. . . . . . g.47530
CTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCGAGAGCCGC c.2460
L L I V E Y A K Y G S L R G F L R E S R p.820
. . . . . . g.47590
AAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCAC c.2520
K V G P G Y L G S G G S R N S S S L D H p.840
. . . . . . g.47650
CCGGATGAGCGGGCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAG c.2580
P D E R A L T M G D L I S F A W Q I S Q p.860
. . | 15. . . . g.48045
GGGATGCAGTATCTGGCCGAGATGAAG | CTCGTTCATCGGGACTTGGCAGCCAGAAACATC c.2640
G M Q Y L A E M K | L V H R D L A A R N I p.880
. . . . . . g.48105
CTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTAT c.2700
L V A E G R K M K I S D F G L S R D V Y p.900
. . . | 16 . . . g.49907
GAAGAGGATTCCTACGTGAAGAGGAGCCAG | GGTCGGATTCCAGTTAAATGGATGGCAATT c.2760
E E D S Y V K R S Q | G R I P V K W M A I p.920
. . . . | 17 . . g.51621
GAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGT | ATGGTCTTTTGGTGTCCTG c.2820
E S L F D H I Y T T Q S D V | W S F G V L p.940
. . . . . . g.51681
CTGTGGGAGATCGTGACCCTAGGGGGAAACCCCTATCCTGGGATTCCTCCTGAGCGGCTC c.2880
L W E I V T L G G N P Y P G I P P E R L p.960
. . . . . | 18 g.52815
TTCAACCTTCTGAAGACCGGCCACCGGATGGAGAGGCCAGACAACTGCAGCGAGGAGAT | G c.2940
F N L L K T G H R M E R P D N C S E E M | p.980
. . . . . . g.52875
TACCGCCTGATGCTGCAATGCTGGAAGCAGGAGCCGGACAAAAGGCCGGTGTTTGCGGAC c.3000
Y R L M L Q C W K Q E P D K R P V F A D p.1000
. . . | 19 . . g.54527
ATCAGCAAAGACCTGGAGAAGATGATGGTTAAGAGGAGA | GACTACTTGGACCTTGCGGCG c.3060
I S K D L E K M M V K R R | D Y L D L A A p.1020
. . . . . . g.54587
TCCACTCCATCTGACTCCCTGATTTATGACGACGGCCTCTCAGAGGAGGAGACACCGCTG c.3120
S T P S D S L I Y D D G L S E E E T P L p.1040
. . . . . . g.54647
GTGGACTGTAATAATGCCCCCCTCCCTCGAGCCCTCCCTTCCACATGGATTGAAAACAAA c.3180
V D C N N A P L P R A L P S T W I E N K p.1060
| 20. . . . . . g.56096
CTCTATG | GCATGTCAGACCCGAACTGGCCTGGAGAGAGTCCTGTACCACTCACGAGAGCT c.3240
L Y G | M S D P N W P G E S P V P L T R A p.1080
. . . . . . g.56156
GATGGCACTAACACTGGGTTTCCAAGATATCCAAATGATAGTGTATATGCTAACTGGATG c.3300
D G T N T G F P R Y P N D S V Y A N W M p.1100
. . . . g.56201
CTTTCACCCTCAGCGGCAAAATTAATGGACACGTTTGATAGTTAA c.3345
L S P S A A K L M D T F D S X p.1114
. . . . . . g.56261
catttctttgtgaaaggtaatggactcacaaggggaagaaacatgctgagaatggaaagt c.*60
. . . . . . g.56321
ctaccggccctttctttgtgaacgtcacattggccgagccgtgttcagttcccaggtggc c.*120
. . . . . . g.56381
agactcgtttttggtagtttgttttaacttccaaggtggttttacttctgatagccggtg c.*180
. . . . . . g.56441
attttccctcctagcagacatgccacaccgggtaagagctctgagtcttagtggttaagc c.*240
. . . . . . g.56501
attcctttctcttcagtgcccagcagcacccagtgttggtctgtgtccatcagtgaccac c.*300
. . . . . . g.56561
caacattctgtgttcacatgtgtgggtccaacacttactacctggtgtatgaaattggac c.*360
. . . . . . g.56621
ctgaactgttggatttttctagttgccgccaaacaaggcaaaaaaatttaaacatgaagc c.*420
. . . . . . g.56681
acacacacaaaaaaggcagtaggaaaaatgctggccctgatgacctgtccttattcagaa c.*480
. . . . . . g.56741
tgagagactgcggggggggcctgggggtagtgtcaatgcccctccagggctggaggggaa c.*540
. . . . . . g.56801
gaggggccccgaggatgggcctgggctcagcattcgagatcttgagaatgattttttttt c.*600
. . . . . . g.56861
aatcatgcaacctttccttaggaagacatttggttttcatcatgattaagatgattccta c.*660
. . . . . . g.56921
gatttagcacaatggagagattccatgccatctttactatgtggatggtggtatcaggga c.*720
. . . . . . g.56981
agagggctcacaagacacatttgtcccccgggcccaccacatcatcctcacgtgttcggt c.*780
. . . . . . g.57041
actgagcagccactacccctgatgagaacagtatgaagaaagggggctgttggagtccca c.*840
. . . . . . g.57101
gaattgctgacagcagaggctttgctgctgtgaatcccacctgccaccagcctgcagcac c.*900
. . . . . . g.57161
accccacagccaagtagaggcgaaagcagtggctcatcctacctgttaggagcaggtagg c.*960
. . . . . . g.57221
gcttgtactcactttaatttgaatcttatcaacttactcataaagggacaggctagctag c.*1020
. . . . . . g.57281
ctgtgttagaagtagcaatgacaatgaccaaggactgctacacctctgattacaattctg c.*1080
. . . . . . g.57341
atgtgaaaaagatggtgtttggctcttatagagcctgtgtgaaaggcccatggatcagct c.*1140
. . . . . . g.57401
cttcctgtgtttgtaatttaatgctgctacaagatgtttctgtttcttagattctgacca c.*1200
. . . . . . g.57461
tgactcataagcttcttgtcattcttcattgcttgtttgtggtcacagatgcacaacact c.*1260
. . . . . . g.57521
cctccagtcttgtgggggcagcttttgggaagtctcagcagctcttctggctgtgttgtc c.*1320
. . . . . . g.57581
agcactgtaacttcgcagaaaagagtcggattaccaaaacactgcctgctcttcagactt c.*1380
. . . . . . g.57641
aaagcactgataggacttaaaatagtctcattcaaatactgtattttatataggcatttc c.*1440
. . . . . . g.57701
acaaaaacagcaaaattgtggcattttgtgaggccaaggcttggatgcgtgtgtaataga c.*1500
. . . . . . g.57761
gccttgtggtgtgtgcgcacacacccagagggagagtttgaaaaatgcttattggacacg c.*1560
. . . . . . g.57821
taacctggctctaatttgggctgtttttcagatacactgtgataagttcttttacaaata c.*1620
. . . . . . g.57881
tctatagacatggtaaacttttggttttcagatatgcttaatgatagtcttactaaatgc c.*1680
. . . . . . g.57941
agaaataagaataaactttctcaaattattaaaaatgcctacacagtaagtgtgaattgc c.*1740
. . . . . . g.58001
tgcaacaggtttgttctcaggagggtaagaactccaggtctaaacagctgacccagtgat c.*1800
. . . . . . g.58061
ggggaatttatccttgaccaatttatccttgaccaataacctaattgtctattcctgagt c.*1860
. . . . . . g.58121
tataaaagtccccatccttattagctctactggaattttcatacacgtaaatgcagaagt c.*1920
. . . . . . g.58181
tactaagtattaagtattactgagtattaagtagtaatctgtcagttattaaaatttgta c.*1980
. . . . . . g.58241
aaatctatttatgaaaggtcattaaaccagatcatgttcctttttttgtaatcaaggtga c.*2040
. . . . g.58283
ctaagaaaatcagttgtgtaaataaaatcatgtatcataaaa c.*2082
(downstream sequence)
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