(used for variant description)
(last modified May 1, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_021939.3 in the FKBP10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015860.1, covering FKBP10 transcript NM_021939.3.
(upstream sequence)
. . g.5025
cccgagcctctctccctggccaggc c.-301
. . . . . . g.5085
cccaggtctcgcagccagggatggagatggggggagggggaacctagagttctttgtagt c.-241
. . . . . . g.5145
gcctccctcagactctaacacactcagcctggccccctcctcctattgcaaccccctccc c.-181
. . . . . . g.5205
ccgctcctcccggccaggccagctcagtcttcccagcccccattccacgtggaccagcca c.-121
. . . . . . g.5265
gggcgggggtagggaaagaggacaggaagagggggagccagttctgggaggcggggggaa c.-61
. . . . . . g.5325
ggaggttggtggcgactccctcgctcgccctcactgccggcggtcccaactccaggcacc c.-1
. . . . . . g.5385
ATGTTCCCCGCGGGCCCCCCCAGCCACAGCCTCCTCCGGCTCCCCCTGCTGCAGTTGCTG c.60
M F P A G P P S H S L L R L P L L Q L L p.20
. . . . . . g.5445
CTACTGGTGGTGCAGGCCGTGGGGAGGGGGCTGGGCCGCGCCAGCCCGGCCGGGGGCCCC c.120
L L V V Q A V G R G L G R A S P A G G P p.40
. . . . . . g.5505
CTGGAAGATGTGGTCATCGAGAGGTACCACATCCCCAGGGCCTGTCCCCGGGAAGTGCAG c.180
L E D V V I E R Y H I P R A C P R E V Q p.60
. . . . . . g.5565
ATGGGGGATTTTGTGCGCTACCACTACAACGGCACTTTTGAAGATGGCAAGAAGTTTGAT c.240
M G D F V R Y H Y N G T F E D G K K F D p.80
| 02 . . . . . . g.9403
TCAAG | CTATGATCGCAACACCTTGGTGGCCATCGTGGTGGGTGTGGGGCGCCTCATCACT c.300
S S | Y D R N T L V A I V V G V G R L I T p.100
. . . . . . g.9463
GGCATGGACCGAGGCCTCATGGGCATGTGTGTCAACGAGCGGCGACGCCTCATTGTGCCT c.360
G M D R G L M G M C V N E R R R L I V P p.120
. . . | 03 . . . g.10408
CCCCACCTGGGCTATGGGAGCATCGGCCTGG | CGGGGCTCATTCCACCGGATGCCACCCTC c.420
P H L G Y G S I G L A | G L I P P D A T L p.140
. . . . . . g.10468
TACTTCGATGTGGTTCTGCTGGATGTGTGGAACAAGGAAGACACCGTGCAGGTGAGCACA c.480
Y F D V V L L D V W N K E D T V Q V S T p.160
. . . . . . g.10528
TTGCTGCGCCCGCCCCACTGCCCCCGCATGGTCCAGGACGGCGACTTTGTCCGCTACCAC c.540
L L R P P H C P R M V Q D G D F V R Y H p.180
. . . . | 04 . . g.10691
TACAATGGCACCCTGCTGGACGGCACCTCCTTCGACACCAG | CTACAGTAAGGGCGGCACT c.600
Y N G T L L D G T S F D T S | Y S K G G T p.200
. . . . . . g.10751
TATGACACCTACGTCGGCTCTGGTTGGCTGATCAAGGGCATGGACCAGGGGCTGCTGGGC c.660
Y D T Y V G S G W L I K G M D Q G L L G p.220
. . . . . . g.10811
ATGTGTCCTGGAGAGAGAAGGAAGATTATCATCCCTCCATTCCTGGCCTATGGCGAGAAA c.720
M C P G E R R K I I I P P F L A Y G E K p.240
| 05. . . . . . g.11553
GGCTATG | GGACAGTGATCCCCCCACAGGCCTCGCTGGTCTTTCACGTCCTCCTGATTGAC c.780
G Y G | T V I P P Q A S L V F H V L L I D p.260
. . . . . . g.11613
GTGCACAACCCGAAGGACGCTGTCCAGCTAGAGACGCTGGAGCTCCCCCCCGGCTGTGTC c.840
V H N P K D A V Q L E T L E L P P G C V p.280
. . . . . . g.11673
CGCAGAGCCGGGGCCGGGGACTTCATGCGCTACCACTACAATGGCTCCTTGATGGACGGC c.900
R R A G A G D F M R Y H Y N G S L M D G p.300
. | 06. . . . . g.11863
ACCCTCTTCGATTCCAG | CTACTCCCGCAACCACACCTACAATACCTATATCGGGCAGGGT c.960
T L F D S S | Y S R N H T Y N T Y I G Q G p.320
. . . . . . g.11923
TACATCATCCCCGGGATGGACCAGGGGCTGCAGGGTGCCTGCATGGGGGAACGCCGGAGA c.1020
Y I I P G M D Q G L Q G A C M G E R R R p.340
. . . . | 07 . . g.12576
ATTACCATCCCCCCGCACCTCGCCTATGGGGAGAATGGAACTG | GAGACAAGATCCCTGGC c.1080
I T I P P H L A Y G E N G T G | D K I P G p.360
. . . . . . g.12636
TCTGCCGTGCTAATCTTCAACGTCCATGTCATTGACTTCCACAACCCTGCGGATGTGGTG c.1140
S A V L I F N V H V I D F H N P A D V V p.380
. . . . . . g.12696
GAAATCAGGACACTGTCCCGGCCATCTGAGACCTGCAATGAGACCACCAAGCTTGGGGAC c.1200
E I R T L S R P S E T C N E T T K L G D p.400
. . . . . | 08 . g.13241
TTTGTTCGATACCATTACAACTGTTCTTTGCTGGACGGCACCCAGCTGTTCACCTC | GCAT c.1260
F V R Y H Y N C S L L D G T Q L F T S | H p.420
. . . . . . g.13301
GACTACGGGGCCCCCCAGGAGGCGACTCTCGGGGCCAACAAGGTGATCGAAGGCCTGGAC c.1320
D Y G A P Q E A T L G A N K V I E G L D p.440
. . . . . . g.13361
ACGGGCCTGCAGGGCATGTGTGTGGGAGAGAGGCGGCAGCTCATCGTGCCCCCGCACCTG c.1380
T G L Q G M C V G E R R Q L I V P P H L p.460
. | 09 . . . . g.13985
GCCCACGGGGAGAGTGGAG | CCCGGGGAGTCCCAGGCAGTGCTGTGCTGCTGTTTGAGGTG c.1440
A H G E S G A | R G V P G S A V L L F E V p.480
. . . . . . g.14045
GAGCTGGTGTCCCGGGAGGATGGGCTGCCCACAGGCTACCTGTTTGTGTGGCACAAGGAC c.1500
E L V S R E D G L P T G Y L F V W H K D p.500
. . . . . . g.14105
CCTCCTGCCAACCTGTTTGAAGACATGGACCTCAACAAGGATGGCGAGGTCCCTCCGGAG c.1560
P P A N L F E D M D L N K D G E V P P E p.520
| 10 . . . . . . g.14570
GAG | TTCTCCACCTTCATCAAGGCTCAAGTGAGTGAGGGCAAAGGACGCCTCATGCCTGGG c.1620
E | F S T F I K A Q V S E G K G R L M P G p.540
. . . . . . g.14630
CAGGACCCTGAGAAAACCATAGGAGACATGTTCCAGAACCAGGACCGCAACCAGGACGGC c.1680
Q D P E K T I G D M F Q N Q D R N Q D G p.560
. . . . . . g.14690
AAGATCACAGTCGACGAGCTCAAGCTGAAGTCAGATGAGGACGAGGAGCGGGTCCACGAG c.1740
K I T V D E L K L K S D E D E E R V H E p.580
g.14699
GAGCTCTGA c.1749
E L X p.582
. . . . . . g.14759
ggggcagggagcctggccaggcctgagacacagaggcccactgcgagggggacagtggcg c.*60
. . . . . . g.14819
gtgggactgacctgctgacagtcaccctccctctgctgggatgaggtccaggagccaact c.*120
. . . . . . g.14879
aaaacaatggcagaggagacatctctggtgttcccaccaccctagatgaaaatccacagc c.*180
. . . . . . g.14939
acagacctctaccgtgtttctcttccatccctaaaccacttccttaaaatgtttggattt c.*240
. . . . . . g.14999
gcaaagccaatttggggcctgtggagcctggggttggatagggccatggctggtccccca c.*300
. . . . . . g.15059
ccatacctcccctccacatcactgacacagctgagcttgttatccatctccccaaacttt c.*360
. . . . . . g.15119
ctctttctttgtacttcttgtcatccccactcccagccccttttcctctatgtgacagct c.*420
. . . . . . g.15179
ccctaggacccctctgccttcctccccaatcctgactggctcctagggaaggggaaggct c.*480
. . . . . . g.15239
cctggagggcagccctacctctcccatgccctttgccctcctccctcgcctccagtggag c.*540
. . . . . . g.15299
gctgagctgaccctgggctgctggaggccagactgggctgtagttagcttttcatcccta c.*600
. . . . . . g.15359
aagaaggctcctttccctaaggaaccatagaagagaggaagaaaacaaagggcatgtgtg c.*660
. . . . . . g.15419
agggaagctgcttgggtgggtgttagggctatgaaatcttggatttggggctgaggggtg c.*720
. . . . . . g.15479
ggagggagggcagagctctgcacactcaaaggctaaactggtgtcagtccttttttcctt c.*780
. . g.15508
tgttccaaataaaagattaaaccaatggc c.*809
(downstream sequence)
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