(used for variant description)
(last modified September 4, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_144997.5 in the FLCN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering FLCN transcript NM_144997.5.
(upstream sequence)
. . g.5024
gagtcacgcgcctgggtgtcggcg c.-481
. . . . . . g.5084
gggctgcgggaccgcgagtgagtgtggtcgctcctggttctgccagctcccctgagagcc c.-421
. . . . . . g.5144
tgaacccgggcttgagagcctcgccaccccgggtgacatccctgccgtgggcttgggggc c.-361
. . . . . . g.5204
tctgggtgtgattccgccggtccgggtcccgcagcgaccacctacccagcgcagtcaggg c.-301
. . . . . . g.5264
gcggggctgggacccagagcgggaccccggctgccgagtccaggtgtcccgcgggcctcg c.-241
. . | 02 . . . . g.9334
atttggggagcag | aaaacgccaggtcttcaagggtgtctgccaccaccatgcctgaccca c.-181
. . . . . . g.9394
tttggcagcagcctcgtgtgtggtggtctggtgtggacggtggaagcgtgattctgctga c.-121
. | 03 . . . . . g.10359
gtgtcag | tgtgaccactcgtgctcagccgtatctcagcaggaggacaggtgccggagcag c.-61
. . . . | 04 . . g.14051
ctcgtgcagctaagcagccaactgcagaaacgtcag | gcctgttgcagtctccaaggcacc c.-1
. . . . . . g.14111
ATGAATGCCATCGTGGCTCTCTGCCACTTCTGCGAGCTCCACGGCCCCCGCACTCTCTTC c.60
M N A I V A L C H F C E L H G P R T L F p.20
. . . . . . g.14171
TGCACGGAGGTGCTGCACGCCCCACTTCCTCAAGGGGATGGGAATGAGGACAGTCCTGGC c.120
C T E V L H A P L P Q G D G N E D S P G p.40
. . . . . . g.14231
CAGGGTGAGCAGGCGGAAGAAGAGGAAGGTGGCATTCAGATGAACAGTCGGATGCGTGCG c.180
Q G E Q A E E E E G G I Q M N S R M R A p.60
. . . . . . g.14291
CACAGCCCCGCAGAGGGGGCCAGCGTCGAGTCCAGCAGCCCGGGGCCCAAAAAGTCGGAC c.240
H S P A E G A S V E S S S P G P K K S D p.80
| 05 . . . . . g.15917
ATGTGCGAG | GGCTGCCGGTCACTTGCTGCAGGGCACCCGGGATATATCAGCCATGATAAA c.300
M C E | G C R S L A A G H P G Y I S H D K p.100
. . . . . . g.15977
GAGACCTCCATTAAATACGTCAGCCACCAGCACCCCAGCCACCCCCAGCTCTTCAGCATT c.360
E T S I K Y V S H Q H P S H P Q L F S I p.120
. . . | 06 . . . g.18069
GTCCGCCAGGCCTGTGTCCGGAGCCTGAGCTGTGAG | GTCTGCCCTGGCCGTGAAGGCCCC c.420
V R Q A C V R S L S C E | V C P G R E G P p.140
. . . . . . g.18129
ATCTTCTTCGGAGATGAGCAGCACGGCTTTGTGTTCAGCCACACCTTCTTCATCAAGGAC c.480
I F F G D E Q H G F V F S H T F F I K D p.160
. . . . . . g.18189
AGCCTGGCCAGGGGCTTCCAGCGCTGGTACAGCATCATCACCATCATGATGGACCGGATC c.540
S L A R G F Q R W Y S I I T I M M D R I p.180
. . . . . . g.18249
TACCTCATCAACTCCTGGCCCTTCCTGCTGGGGAAGGTCCGGGGAATCATCGATGAGCTC c.600
Y L I N S W P F L L G K V R G I I D E L p.200
. | 07 . . . . g.19569
CAGGGCAAGGCGCTCAAG | GTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAG c.660
Q G K A L K | V F E A E Q F G C P Q R A Q p.220
. . . . . . g.19629
AGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCG c.720
R M N T A F T P F L H Q R N G N A A R S p.240
. . . . . | 08 g.20561
CTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTG | G c.780
L T S L T S D D N L W A C L H T S F A W | p.260
. . . . . . g.20621
CTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAG c.840
L L K A C G S R L T E K L L E G A P T E p.280
. . . | 09 . . . g.23008
GATACCTTGGTCCAGATGGAGAAGCTCGCTG | ATTTAGAAGAGGAATCAGAAAGCTGGGAC c.900
D T L V Q M E K L A D | L E E E S E S W D p.300
. . . . . . g.23068
AACTCTGAGGCTGAAGAGGAGGAGAAAGCCCCTGTGTTGCCAGAGAGTACAGAAGGGCGG c.960
N S E A E E E E K A P V L P E S T E G R p.320
. . . . . . g.23128
GAGCTGACCCAGGGCCCGGCAGAGTCCTCCTCTCTCTCAGGCTGTGGGAGCTGGCAGCCC c.1020
E L T Q G P A E S S S L S G C G S W Q P p.340
. . . . | 10 . . g.25024
CGGAAGCTGCCAGTCTTCAAGTCCCTCCGGCACATGAGGCAG | GTCCTGGGTGCCCCTTCT c.1080
R K L P V F K S L R H M R Q | V L G A P S p.360
. . . . . . g.25084
TTCCGCATGCTGGCCTGGCACGTTCTCATGGGGAACCAGGTGATCTGGAAAAGCAGAGAC c.1140
F R M L A W H V L M G N Q V I W K S R D p.380
. . . | 11 . . . g.25709
GTGGACCTCGTCCAGTCAGCTTTTGAAGTACTTCGG | ACCATGCTTCCCGTGGGCTGCGTC c.1200
V D L V Q S A F E V L R | T M L P V G C V p.400
. . . . . . g.25769
CGCATCATCCCATACAGCAGCCAGTACGAGGAGGCCTATCGGTGCAACTTCCTGGGGCTC c.1260
R I I P Y S S Q Y E E A Y R C N F L G L p.420
. . . . | 12 . . g.26892
AGCCCGCACGTGCAGATCCCCCCCCACGTGCTCTCCTCAG | AGTTTGCTGTCATCGTGGAG c.1320
S P H V Q I P P H V L S S E | F A V I V E p.440
. . . . . . g.26952
GTCCACGCAGCCGCACGTTCCACCCTCCACCCTGTGGGGTGTGAGGATGACCAGTCTCTC c.1380
V H A A A R S T L H P V G C E D D Q S L p.460
. . . . . | 13 . g.27106
AGCAAGTACGAGTTTGTGGTGACCAGTGGGAGCCCTGTAGCTGCAGACCGAG | TGGGCCCC c.1440
S K Y E F V V T S G S P V A A D R V | G P p.480
. . . . . . g.27166
ACCATCCTGAATAAGATTGAAGCGGCTCTGACCAACCAGAACCTGTCTGTGGATGTGGTG c.1500
T I L N K I E A A L T N Q N L S V D V V p.500
. . . | 14 . . g.28354
GACCAGTGCCTCGTCTGCCTCAAGGAGGAGTGGATGAA | CAAAGTGAAGGTGCTTTTTAAG c.1560
D Q C L V C L K E E W M N | K V K V L F K p.520
. . . . . . g.28414
TTCACCAAGGTGGACAGTCGACCCAAAGAGGACACACAGAAGCTGCTGAGCATCCTGGGT c.1620
F T K V D S R P K E D T Q K L L S I L G p.540
. . . . . . g.28474
GCGTCCGAGGAGGACAATGTCAAGCTGCTGAAGTTCTGGATGACTGGCCTGAGCAAGACC c.1680
A S E E D N V K L L K F W M T G L S K T p.560
. . . . . . g.28534
TACAAGTCACACCTCATGTCCACGGTCCGCAGCCCCACAGCCTCGGAGTCTCGGAACTGA c.1740
Y K S H L M S T V R S P T A S E S R N X p.579
. . . . . . g.28594
cccgtcacacacacctgcctaaagacagggatggctgtccacaggatcctccagccccgt c.*60
. . . . . . g.28654
gagagggactgtcccttgagtttctcaactgctggaaggagctgtgtcccagcaaggaag c.*120
. . . . . . g.28714
ggaaaccatcagggctgggctcggccctgtcaggtttggggcctgtgtgcttcccagact c.*180
. . . . . . g.28774
ctccctccagccgttggaatcgctgaagatggcaatgaaaggcggagggatgatgggctc c.*240
. . . . . . g.28834
tctctgtgttcaaactccttggagagacgactaggaggacagcttgcctcccaggcccct c.*300
. . . . . . g.28894
tgtggacttagactcaaaacccgcaggagaaacaggtccgactcagtatgcagtcgcaat c.*360
. . . . . . g.28954
aacatgtctgctcccgaggttaacattcaagcgtttctactttgaaattcagcaagagtt c.*420
. . . . . . g.29014
tctgggccttatgtttgagggtaccttttgctgcagttgtgaatattcagtacattgcca c.*480
. . . . . . g.29074
gctcttggtcactgagtgattgagttagggctccgcaagagactttggggagtgaagtgg c.*540
. . . . . . g.29134
atctcttcctcatcttttggtcctctgaaatgtgtgttctgaagccatggggctcgtctt c.*600
. . . . . . g.29194
ctggggtgttcccctgcaggtgctggtgaaggtaacctggggcttaatgatggagtccct c.*660
. . . . . . g.29254
gatcatttttgcacaagacaggttgctgaggggtcggcaagcatctgacttgcccaatcc c.*720
. . . . . . g.29314
cctggatatggtgagccccgccatgcttttattctgtatcgcttttgtctttattgctgc c.*780
. . . . . . g.29374
tttcaacatttacgtttggttacagttaactattttcggagtgtggtgattgaagacaat c.*840
. . . . . . g.29434
ttcatcatcccactgtacttttttttttgagagggagtttcactcttgttgcccaggctg c.*900
. . . . . . g.29494
gagtgcaatggcacgatcttggctcactgcaacctctgcctcctgggttcaagcaattct c.*960
. . . . . . g.29554
cctgcctcagcctccagagtagctggaactacaggtgcccgccactatgcccagctaatt c.*1020
. . . . . . g.29614
tttgtattttttagtagagacggggtttcaccgtgttggccgggctggtctcaaactcct c.*1080
. . . . . . g.29674
gacctcaggtgatccacccacctcagcctcccaaagtgctgggattacaagcgtgagcca c.*1140
. . . . . . g.29734
ctgtgcctggcccttttttttttttttttttttttttttaaagagatggcatcttgctat c.*1200
. . . . . . g.29794
gtcgtccaggctggtcttgaactcctgagttcaagcagtcctcctgcttcaacatacagc c.*1260
. . . . . . g.29854
tacaggtaccccccactatacatttttaataaggattcatggctcagagggattttctga c.*1320
. . . . . . g.29914
tggttttgctgatttgtttctagtttttttgtgtttatatttaacatgaagaccaagttt c.*1380
. . . . . . g.29974
atataactaggtatctgtataatgcaacaacattggaacacaataaagatgtatttttgt c.*1440
g.29977
aaa c.*1443
(downstream sequence)
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