(used for variant description)
(last modified November 13, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001031710.2 in the KLHL7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016983.1, covering KLHL7 transcript NM_001031710.2.
(upstream sequence)
. . . . . g.5053
atagtgcccccgcctccttgcgcgaagtgcgcaggctcctgggcagggctcgg c.-241
. . . . . . g.5113
gttctgcccggggacgcagcccagttggtagcgtcgctccctgagcgtttctaagggggc c.-181
. . . . . . g.5173
cgcccggccttgtctttcggcagtggccgagccaccgccgcctgccgcgcgttccagagc c.-121
. . . . . . g.5233
tgggcgctgcagctgcactgccgatcgccgtgtttggtcgatagaatccccagtgtgccc c.-61
. . . . . . g.5293
agagagtgcgacccctcgcccggcccggcgagccccgggcgtgaaccgagctgagggagg c.-1
. . . . . . g.5353
ATGGCAGCCTCTGGGGTGGAGAAGAGCAGCAAGAAGAAGACCGAGAAGAAACTTGCTGCT c.60
M A A S G V E K S S K K K T E K K L A A p.20
. . . . . . g.5413
CGGGAAGAAGCTAAATTGTTGGCGGGTTTCATGGGCGTCATGAATAACATGCGGAAACAG c.120
R E E A K L L A G F M G V M N N M R K Q p.40
| 02 . . . . . . g.23103
| AAAACGTTGTGTGACGTGATCCTCATGGTCCAGGAAAGAAAGATACCTGCTCATCGTGTT c.180
| K T L C D V I L M V Q E R K I P A H R V p.60
. . . . | 03 . . g.23971
GTTCTTGCTGCAGCCAGTCATTTTTTTAACTTAATGTTCACAA | CTAACATGCTTGAATCA c.240
V L A A A S H F F N L M F T T | N M L E S p.80
. . . . . . g.24031
AAGTCCTTTGAAGTAGAACTCAAAGATGCTGAACCTGATATTATTGAACAACTGGTGGAA c.300
K S F E V E L K D A E P D I I E Q L V E p.100
. | 04. . . . . g.24357
TTTGCTTATACTGCTAG | AATTTCCGTGAATAGCAACAATGTTCAGTCTTTGCTGGATGCA c.360
F A Y T A R | I S V N S N N V Q S L L D A p.120
. . . . . . g.24417
GCAAACCAATATCAGATTGAACCTGTGAAGAAAATGTGTGTTGATTTTTTGAAAGAACAA c.420
A N Q Y Q I E P V K K M C V D F L K E Q p.140
. . | 05 . . . . g.40073
GTTGATGCTTCAAATTGTCTTG | GTATAAGTGTGCTAGCGGAGTGTCTAGATTGTCCTGAA c.480
V D A S N C L G | I S V L A E C L D C P E p.160
. . . . . . g.40133
TTGAAAGCAACTGCAGATGACTTTATTCATCAGCACTTTACTGAAGTTTACAAAACTGAT c.540
L K A T A D D F I H Q H F T E V Y K T D p.180
. . . . . . g.40193
GAATTTCTTCAACTTGATGTCAAGCGAGTAACACATCTTCTCAACCAGGACACTCTGACT c.600
E F L Q L D V K R V T H L L N Q D T L T p.200
. | 06 . . . . g.43159
GTGAGAGCAGAGGATCAG | GTTTATGATGCTGCAGTCAGGTGGTTGAAATACGATGAACCT c.660
V R A E D Q | V Y D A A V R W L K Y D E P p.220
. . . . . . g.43219
AATCGCCAGCCATTTATGGTTGATATCCTTGCTAAAGTCAGGTTTCCTCTTATATCAAAG c.720
N R Q P F M V D I L A K V R F P L I S K p.240
. . . . . . g.43279
AATTTCTTAAGTAAAACGGTACAAGCTGAACCACTTATTCAAGACAATCCTGAATGCCTT c.780
N F L S K T V Q A E P L I Q D N P E C L p.260
. | 07 . . . . . g.51380
AAGATGGTGATAA | GTGGAATGAGGTACCATCTACTGTCTCCAGAGGACCGAGAAGAACTT c.840
K M V I S | G M R Y H L L S P E D R E E L p.280
. . . . . . g.51440
GTAGATGGCACAAGACCTAGAAGAAAGAAACATGACTACCGCATAGCCCTATTTGGAGGC c.900
V D G T R P R R K K H D Y R I A L F G G p.300
. . . | 08 . . . g.64988
TCTCAACCACAGTCTTGTAGATATTTTAACCCAAAG | GATTATAGCTGGACAGACATCCGC c.960
S Q P Q S C R Y F N P K | D Y S W T D I R p.320
. . . . . . g.65048
TGCCCCTTTGAAAAACGAAGAGATGCAGCATGCGTGTTTTGGGACAATGTAGTATACATT c.1020
C P F E K R R D A A C V F W D N V V Y I p.340
. . . . . . g.65108
TTGGGAGGCTCTCAGCTTTTCCCAATAAAGCGAATGGACTGCTATAATGTAGTGAAGGAT c.1080
L G G S Q L F P I K R M D C Y N V V K D p.360
. . . . . . g.65168
AGCTGGTATTCGAAACTGGGTCCTCCGACACCTCGAGACAGCCTTGCTGCATGTGCTGCA c.1140
S W Y S K L G P P T P R D S L A A C A A p.380
. . . | 09. . . g.67125
GAAGGCAAAATTTATACATCTGGAGGTTCAGAAGTAG | GAAACTCAGCTCTGTATTTATTT c.1200
E G K I Y T S G G S E V G | N S A L Y L F p.400
. . . . . . g.67185
GAGTGCTATGATACGAGAACTGAAAGCTGGCACACAAAGCCCAGCATGCTGACCCAGCGC c.1260
E C Y D T R T E S W H T K P S M L T Q R p.420
. . . . . . g.67245
TGCAGCCATGGGATGGTGGAAGCCAATGGCCTAATCTATGTTTGTGGTGGAAGTTTAGGA c.1320
C S H G M V E A N G L I Y V C G G S L G p.440
. . . . . | 10 g.72215
AACAATGTTTCTGGGAGAGTGCTTAATTCCTGTGAAGTTTATGATCCTGCCACAGAAAC | A c.1380
N N V S G R V L N S C E V Y D P A T E T | p.460
. . . . . . g.72275
TGGACTGAGCTGTGTCCAATGATTGAAGCCAGGAAGAATCATGGGCTGGTATTTGTAAAA c.1440
W T E L C P M I E A R K N H G L V F V K p.480
. . . | 11. . . g.73304
GACAAGATATTTGCTGTGGGTGGTCAGAATGGTTTAG | GTGGTCTGGACAATGTGGAATAT c.1500
D K I F A V G G Q N G L G | G L D N V E Y p.500
. . . . . . g.73364
TACGATATTAAGTTGAACGAATGGAAGATGGTCTCACCAATGCCATGGAAGGGTGTAACA c.1560
Y D I K L N E W K M V S P M P W K G V T p.520
. . . . . . g.73424
GTGAAATGTGCAGCAGTTGGCTCTATAGTTTATGTCTTGGCTGGTTTTCAGGGTGTTGGT c.1620
V K C A A V G S I V Y V L A G F Q G V G p.540
. . . . . . g.73484
CGATTAGGACACATTCTCGAATATAATACCGAAACAGACAAATGGGTTGCCAACTCCAAA c.1680
R L G H I L E Y N T E T D K W V A N S K p.560
. . . . . . g.73544
GTTCGTGCTTTTCCAGTCACAAGTTGTTTAATTTGTGTTGTCGATACTTGTGGAGCAAAT c.1740
V R A F P V T S C L I C V V D T C G A N p.580
. . g.73565
GAAGAGACCCTTGAAACATGA c.1761
E E T L E T X p.586
. . . . . . g.73625
aaaatgagtggacttcagactcatcagagactctaaaatatagccaccagtgctttgttc c.*60
. . . . . . g.73685
caggagtttggtgacaaagttttggtttggtgttttggtaaagaaagtttcaagtgaaat c.*120
. . . . . . g.73745
gaggttcctataaaatagatgtttcttttatatggatttccttaattcaaagatcatatt c.*180
. . . . . . g.73805
ttagctggccacaaaaccaagaacatatctagcaagaaaacttgaaaaagtataagcatt c.*240
. . . . . . g.73865
tgttaaaaatgtgaatttcttgaatgaatttcacatttgtaactatgattttggcagaat c.*300
. . . . . . g.73925
agaagattggctcatcagtgaagcgcagtatcttagctctagattctattttcatgcatc c.*360
. . . . . . g.73985
acagaagtgctatacggttaggtctgtttgtgctcagtcaagaactaagaaatagtatga c.*420
. . . . . . g.74045
attgtaagtcaagatgggcaactcagatggagcagcttagtctcacagtttgcttgtcta c.*480
. . . . . . g.74105
tttattttatttagtgccaaatgtattccattttaaaagtaagccagagtgagtcaaggc c.*540
. . . . . . g.74165
atatacacactttctcacaaaacttcctaaacagatttgggggtttaatatgtccaactc c.*600
. . . . . . g.74225
ctcatgaaatatattcaatccacttaaatatattccatctttttaacataaaatgtaaag c.*660
. . . . . . g.74285
cttagcacccatcattaatttatgtctctgttttatccagtggttaaaaaaggattctgc c.*720
. . . . . . g.74345
ctctttagtcctcactgttaaataaaacccaatcatagtaagtgattaactagcaaaaag c.*780
. . . . . . g.74405
taaagctatttatagcaaatttctagatcattagaaaagcactggtagttgtacaatatc c.*840
. . . . . . g.74465
agtgttgactttgaacttctttaacgagatcatgaattcttttcccttagccaaaacatg c.*900
. . . . . . g.74525
aaatatttaacctagttgtctctaaaagttttgtaatcatgagttagatatatgtcatct c.*960
. . . . . . g.74585
cctattcattgcttttatgtgatcaataaatcttttacaaacccaactactcatttcctt c.*1020
. . . . . . g.74645
cctagtaatactttgcctttttcactgtgtatggaatgaaacatgtaaagctgtcacaat c.*1080
. . . . g.74688
caatgtttttatctgataatattaaatattttttaacttaaaa c.*1123
(downstream sequence)
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