(used for variant description)
(last modified February 2, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_018847.2 in the KLHL9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_051240.1, covering KLHL9 transcript NM_018847.2.
(upstream sequence)
. . . g.5031
agccgctaaggccgctcccaccccgtggtat c.-541
. . . . . . g.5091
cctgggactaggcttttccggaaggagcggctcggtgttggggctaggccggtattctag c.-481
. . . . . . g.5151
gcccaagcccaggcccaggcctgtgttcccggcccttgctcaaagacaggccggtggccg c.-421
. . . . . . g.5211
ctgcgacactctaggtacagcggagggcgcagcgggccgttcgctgaggtgtccggaccc c.-361
. . . . . . g.5271
gccgccgagcgggccgtggagccacagtacgtggcggcgcctcttccttgcccgaagcgg c.-301
. . . . . . g.5331
aactgctgaaggagcggcagcgcaggccggacgaggtgaaccaggtcatttaaccgcctt c.-241
. . . . . . g.5391
caggtgatgaatcatctgtctaataatcagatttgaggtccacagccctttgtggtcctg c.-181
. . . . . . g.5451
ctacagggtgattttcagtggatgactgactggcgtggcccgaggggtgccgcagtgact c.-121
. . . . . . g.5511
gccttcccttgataaggaaacgagctttctgttctttctggacacctcgttacctgtaaa c.-61
. . . . . . g.5571
acattccggttataacttctttatccggcttgcatctctgtgcaagaggaaagctttcac c.-1
. . . . . . g.5631
ATGAAAGTGTCCCTTGGTAACGGCGAAATGGGCGTCTCTGCCCATTTGCAGCCTTGTAAG c.60
M K V S L G N G E M G V S A H L Q P C K p.20
. . . . . . g.5691
GCAGGAACCACACGCTTTTTTACCAGCAATACTCACAGTTCGGTGGTATTGCAAGGCTTT c.120
A G T T R F F T S N T H S S V V L Q G F p.40
. . . . . . g.5751
GATCAGCTTAGAATAGAAGGATTGCTTTGTGATGTGACCCTGGTACCAGGTGATGGAGAT c.180
D Q L R I E G L L C D V T L V P G D G D p.60
. . . . . . g.5811
GAAATCTTCCCTGTTCACAGAGCTATGATGGCGTCTGCTAGTGATTATTTCAAAGCCATG c.240
E I F P V H R A M M A S A S D Y F K A M p.80
. . . . . . g.5871
TTCACAGGTGGAATGAAAGAACAAGATTTGATGTGCATTAAGCTTCATGGGGTGAACAAG c.300
F T G G M K E Q D L M C I K L H G V N K p.100
. . . . . . g.5931
GTTGGTCTGAAGAAAATCATTGATTTTATTTATACTGCAAAACTTTCTCTTAATATGGAC c.360
V G L K K I I D F I Y T A K L S L N M D p.120
. . . . . . g.5991
AATCTTCAGGACACACTTGAAGCTGCTAGCTTTTTACAAATATTACCCGTTTTGGATTTC c.420
N L Q D T L E A A S F L Q I L P V L D F p.140
. . . . . . g.6051
TGTAAAGTATTTCTTATATCAGGAGTCTCTTTGGATAACTGTGTTGAGGTTGGACGAATT c.480
C K V F L I S G V S L D N C V E V G R I p.160
. . . . . . g.6111
GCTAACACCTACAATCTTATAGAAGTGGATAAATATGTTAATAATTTCATCCTGAAGAAC c.540
A N T Y N L I E V D K Y V N N F I L K N p.180
. . . . . . g.6171
TTTCCTGCTTTATTGAGTACTGGGGAGTTTCTAAAACTCCCTTTTGAACGACTTGCATTT c.600
F P A L L S T G E F L K L P F E R L A F p.200
. . . . . . g.6231
GTGCTTTCCAGTAATAGTCTTAAGCACTGTACCGAACTTGAACTCTTTAAGGCAGCCTGT c.660
V L S S N S L K H C T E L E L F K A A C p.220
. . . . . . g.6291
CGCTGGCTAAGGTTGGAAGACCCTCGGATGGATTATGCTGCAAAGTTAATGAAGAATATT c.720
R W L R L E D P R M D Y A A K L M K N I p.240
. . . . . . g.6351
CGATTTCCACTGATGACACCACAGGATCTCATCAATTACGTGCAGACAGTAGATTTCATG c.780
R F P L M T P Q D L I N Y V Q T V D F M p.260
. . . . . . g.6411
AGAACAGACAATACCTGCGTGAATTTGCTTTTGGAAGCTAGCAATTACCAAATGATGCCA c.840
R T D N T C V N L L L E A S N Y Q M M P p.280
. . . . . . g.6471
TATATGCAGCCAGTGATGCAGTCAGATAGAACTGCCATTCGATCTGACTCCACTCACTTG c.900
Y M Q P V M Q S D R T A I R S D S T H L p.300
. . . . . . g.6531
GTTACATTAGGAGGAGTTTTGAGGCAGCAGCTGGTTGTCAGTAAAGAATTACGGATGTAT c.960
V T L G G V L R Q Q L V V S K E L R M Y p.320
. . . . . . g.6591
GATGAAAGGGCACAAGAATGGAGATCTTTAGCCCCAATGGATGCTCCCCGTTACCAGCAT c.1020
D E R A Q E W R S L A P M D A P R Y Q H p.340
. . . . . . g.6651
GGTATTGCTGTCATTGGAAACTTTCTTTATGTAGTTGGTGGTCAGAGTAATTATGATACA c.1080
G I A V I G N F L Y V V G G Q S N Y D T p.360
. . . . . . g.6711
AAAGGAAAAACTGCTGTTGATACAGTTTTCAGATTTGATCCTCGGTATAATAAATGGATG c.1140
K G K T A V D T V F R F D P R Y N K W M p.380
. . . . . . g.6771
CAGGTTGCATCATTAAATGAAAAGCGCACATTCTTTCACTTGAGTGCCCTCAAAGGACAT c.1200
Q V A S L N E K R T F F H L S A L K G H p.400
. . . . . . g.6831
TTGTATGCAGTTGGTGGGCGCAGTGCAGCTGGTGAACTGGCCACAGTAGAATGTTACAAC c.1260
L Y A V G G R S A A G E L A T V E C Y N p.420
. . . . . . g.6891
CCAAGAATGAATGAGTGGAGCTATGTTGCAAAAATGAGTGAACCCCACTATGGTCATGCT c.1320
P R M N E W S Y V A K M S E P H Y G H A p.440
. . . . . . g.6951
GGAACAGTATATGGAGGCTTAATGTATATTTCAGGAGGAATTACCCATGACACTTTCCAA c.1380
G T V Y G G L M Y I S G G I T H D T F Q p.460
. . . . . . g.7011
AATGAGCTCATGTGTTTTGACCCAGATACAGATAAATGGATGCAAAAGGCTCCAATGACT c.1440
N E L M C F D P D T D K W M Q K A P M T p.480
. . . . . . g.7071
ACAGTCAGAGGTCTGCATTGCATGTGTACAGTTGGAGATAAGCTCTATGTCATTGGTGGC c.1500
T V R G L H C M C T V G D K L Y V I G G p.500
. . . . . . g.7131
AATCACTTCAGAGGAACAAGTGATTATGATGATGTTCTAAGCTGTGAATACTATTCACCA c.1560
N H F R G T S D Y D D V L S C E Y Y S P p.520
. . . . . . g.7191
ACCCTTGACCAGTGGACCCCAATTGCCGCCATGTTAAGAGGCCAAAGTGATGTTGGAGTT c.1620
T L D Q W T P I A A M L R G Q S D V G V p.540
. . . . . . g.7251
GCCGTCTTTGAAAATAAAATCTATGTTGTTGGTGGATATTCTTGGAATAATCGTTGTATG c.1680
A V F E N K I Y V V G G Y S W N N R C M p.560
. . . . . . g.7311
GTAGAAATTGTCCAGAAATATGACCCAGAAAAAGATGAGTGGCATAAAGTTTTTGATCTT c.1740
V E I V Q K Y D P E K D E W H K V F D L p.580
. . . . . . g.7371
CCAGAGTCACTTGGTGGCATTCGAGCCTGTACACTCACAGTTTTTCCACCTGAAGAAAAC c.1800
P E S L G G I R A C T L T V F P P E E N p.600
. . . . . g.7425
CCTGGGTCACCTTCTAGAGAATCACCTCTTTCAGCACCTTCAGATCATTCTTAG c.1854
P G S P S R E S P L S A P S D H S X p.617
. . . . . . g.7485
gtctaaggtgtaacacctttgcagtacgtcatgggtgatctaatacttccccttcagttg c.*60
. . . . . . g.7545
tatcttcttacagtgattggtacagttattagatataaaggtaactgatgttattcgtct c.*120
. . . . . . g.7605
tgtatggcttttagtatgtttatcaagtggctaacaaatgcattctgaaaatgtatttaa c.*180
. . . . . . g.7665
catagctgttttaacaaatgaaaaaaagacgtagaaaaatgtttagatgtctttttgtga c.*240
. . . . . . g.7725
tgttatataaaattgtagatgactgtggtaaatgtgtaattatgtccattatgcttcaaa c.*300
. . . . . . g.7785
gttgagttttcatctttgactccaaaatgtcagagggaggccgctctaaactaaaaataa c.*360
. . . . . . g.7845
cgaaaggttgccaagtattaatactagttacctccctcttttcgtagtttttgtcatgtc c.*420
. . . . . . g.7905
tgtcaacttactcgattgtgtggttgcattcagaatatttgaagtttcttacgtagacag c.*480
. . . . . . g.7965
aaataataaaaatattaactaggaaaaaacagtatagcaccaagccagtatttggtatct c.*540
. . . . . . g.8025
ctctctagagcgagcaagagagggagagaggaggaaaaaatacacataatacaaacatac c.*600
. . . . . . g.8085
atgcatgcacacatacatacatatgtatacacacacataatttgaaaactgattggcact c.*660
. . . . . . g.8145
tcaacgatgctgaaattgtttttaaattgaagtttctttcttccacaaagcagccgtttc c.*720
. . . . . . g.8205
tattcaaatggaaattcagtaccagagaataaatgtctatgtagtcatactgaatttaga c.*780
. . . . . . g.8265
tagataagggctacagcatactaaatcgacaaccaaatttgtcatgtgactaaaccgtta c.*840
. . . . . . g.8325
cttcagatgaagcttacattactgttttctgcttgtgtattttctgtagagtacttttac c.*900
. . . . . . g.8385
acagattggtaaagttcaggtttcagagaactgcttttgtgcagaaaatttaggttcttt c.*960
. . . . . . g.8445
tttccacctttttggtcagtaaaacttaatgaaaaaagcaaagaaaaaaatattctgaac c.*1020
. . . . . . g.8505
aaagctatagggttttaagttcagcctcccaacttagtcatcctaacatgattattttgt c.*1080
. . . . . . g.8565
gatttggggtgcttgccctggtgctgttccagtccatgtgcatcctgagctgtgtgatct c.*1140
. . . . . . g.8625
gcctcgaggctatgatctgagcaagcaggagataacattttcttctgcatcaagtgagga c.*1200
. . . . . . g.8685
aaaatgtgcttttggccatgtctcaaagacaggaccaacttcagattcccaaagaagcca c.*1260
. . . . . . g.8745
gctacagagcctctggaacactatggtcttacaagcagtactaaaatcaaccctcagcct c.*1320
. . . . . . g.8805
cttcaatgccaaaggtatccctattggttgagaaccacatggtaatttttaatgggactt c.*1380
. . . . . . g.8865
ttatcagcaaatggagttacaggaattctctgtaatgagtgattctgaagaggtactttc c.*1440
. . . . . . g.8925
ctggaataattgtctacctgaagaaaaaaaatttatatatacattgtgtgtgtgtgtaat c.*1500
. . . . . . g.8985
acacacacacaaccccctatacctggaagattgtcagcatgtaaatcaggaacaactttc c.*1560
. . . . . . g.9045
tccttattgacaatcccataataaaactcaggaaccaaggcaaaatgaattggcttctag c.*1620
. . . . . . g.9105
gggtctgaaccttactgcccatacaagtgttgattcattttaatgctgtttatgatttct c.*1680
. . . . . . g.9165
gcattggcagaaattttcatactttctatgtttttttaattactcagttttttattacta c.*1740
. . . . . . g.9225
aaaatagcacatttgagtacatttgaaaagtagaaaaattagaaattattaactttattg c.*1800
. . . . . . g.9285
aataagcaagaagtgcatcctaatcctttgattattaatgaggttgaatatttgtgtgct c.*1860
. . . . . . g.9345
atcggtagctgtgtttctttgatcagatgttcctgtccttttgcccttctgttatctgtt c.*1920
. . . . . . g.9405
ggagttgctttgtttttcgtatcaagttataggatctctttatataataaatgtaattta c.*1980
g.9412
acttgca c.*1987
(downstream sequence)
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