(used for variant description)
(last modified April 3, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_153033.4 in the KCTD7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028110.1, covering KCTD7 transcript NM_153033.4.
(upstream sequence)
g.5004
agct c.-181
. . . . . . g.5064
gggcgcgagcgggtcggcgttgagggagccaccgccctcccgcctgcgcactgcctctcg c.-121
. . . . . . g.5124
cccccctccggccagcccgcagccggccgcgtcatgccaggcgctgctcggcggtaggga c.-61
. . . . . . g.5184
gtgcccggggccgccgcctccgcccgcccgaagccgcgcccactgcccagagccagaggg c.-1
. . . . . . g.5244
ATGGTGGTAGTCACGGGGCGGGAGCCAGACAGCCGTCGTCAGGACGGTGCCATGTCCAGC c.60
M V V V T G R E P D S R R Q D G A M S S p.20
. . . . . . g.5304
TCTGACGCCGAAGACGACTTTCTGGAGCCGGCCACGCCGACGGCCACGCAGGCGGGGCAC c.120
S D A E D D F L E P A T P T A T Q A G H p.40
. . | 02 . . . . g.9430
GCGCTGCCCCTGCTGCCACAGGAG | TTTCCTGAGGTTGTTCCCCTTAACATCGGAGGGGCT c.180
A L P L L P Q E | F P E V V P L N I G G A p.60
. . . . . . g.9490
CACTTCACTACACGCCTGTCCACACTGCGGTGCTACGAAGACACCATGTTGGCAGCCATG c.240
H F T T R L S T L R C Y E D T M L A A M p.80
. . . . . . g.9550
TTCAGTGGGCGGCACTACATCCCCACGGACTCCGAGGGCCGGTACTTCATCGACCGAGAT c.300
F S G R H Y I P T D S E G R Y F I D R D p.100
. | 03 . . . . . g.14418
GGCACACACTTTGG | AGATGTGCTGAATTTCCTGCGCTCAGGGGACCTCCCACCCAGGGAG c.360
G T H F G | D V L N F L R S G D L P P R E p.120
. . . . . . g.14478
CGTGTTCGAGCTGTGTACAAAGAGGCCCAGTACTATGCCATCGGGCCCCTCCTGGAGCAG c.420
R V R A V Y K E A Q Y Y A I G P L L E Q p.140
. . . . . . g.14538
CTGGAGAACATGCAGCCACTGAAGGGCGAGAAGGTGCGCCAAGCGTTTCTGGGACTCATG c.480
L E N M Q P L K G E K V R Q A F L G L M p.160
. | 04 . . . . . g.15022
CCCTATTACAAAG | ACCACTTGGAGCGGATTGTGGAGATCGCCCGGCTGCGTGCGGTCCAG c.540
P Y Y K D | H L E R I V E I A R L R A V Q p.180
. . . . . . g.15082
CGGAAGGCCCGCTTTGCCAAGCTCAAGGTCTGTGTCTTCAAGGAGGAGATGCCCATCACC c.600
R K A R F A K L K V C V F K E E M P I T p.200
. . . . . . g.15142
CCCTATGAGTGTCCGCTCCTCAACTCCCTGCGATTTGAGCGGAGTGAGAGTGACGGGCAG c.660
P Y E C P L L N S L R F E R S E S D G Q p.220
. . . . . . g.15202
CTTTTTGAGCACCACTGTGAAGTGGATGTGTCTTTTGGGCCCTGGGAGGCTGTGGCTGAT c.720
L F E H H C E V D V S F G P W E A V A D p.240
. . . . . . g.15262
GTTTATGACCTGCTGCACTGCCTGGTCACGGACCTCTCGGCCCAGGGTCTCACCGTGGAC c.780
V Y D L L H C L V T D L S A Q G L T V D p.260
. . . . . . g.15322
CACCAGTGCATCGGGGTGTGTGACAAGCACCTCGTGAACCACTACTACTGCAAGCGCCCC c.840
H Q C I G V C D K H L V N H Y Y C K R P p.280
. . . g.15352
ATCTATGAGTTCAAGATCACATGGTGGTGA c.870
I Y E F K I T W W X p.289
. . . . . . g.15412
gtagccccggtaggcgagagtcccatcagggaggatgtccaccttgcttggtggctctgg c.*60
. . . . . . g.15472
gagtaagatccctgaaggggctgctgactgccccagaatctgccgaggtgagaacagcat c.*120
. . . . . . g.15532
cctgaggcacagctcccaggggacagaggtgtagctccaatctccctgactgcacctcag c.*180
. . . . . . g.15592
ggttgggctcagggcttgcggcctgcaggcactccagccagcgctcacctggcctttcct c.*240
. . . . . . g.15652
caaggcatggtagtctttccttgaggctgatagctagggcttgaccaggaagtcccgaga c.*300
. . . . . . g.15712
agttttgtcaccttcttgaccttgcaagagagtttctgcccattttagagccacgttacc c.*360
. . . . . . g.15772
aaatcgatgtaggcctaatcacttcctcaaccctgttcaagcgtccctcccttgtgctca c.*420
. . . . . . g.15832
gtatattggtgtgaacacggaacatgatgggggatttacctgaccagccaccccatagcc c.*480
. . . . . . g.15892
cctggctgaagaagaaagagcatcttctctcccactgcaccccttctcctccaagaatag c.*540
. . . . . . g.15952
ttgcccacattcccaaaatgtggaaagacttttcttttccttccggaacatgttcttcac c.*600
. . . . . . g.16012
caccttttggagatttaaccatagctgccaaagctatgcacccagttggccttagaaaac c.*660
. . . . . . g.16072
cacaatgtttacagccctgtcttagggccgcggcttctcttatcttccaccaccttcctt c.*720
. . . . . . g.16132
gcttgcagggttatcttctcacagggctggaatgcaaatttcagaggcttcttttgaaga c.*780
. . . . . . g.16192
ttccccaagtcaagcaggcaagatgcctagatcttctgttatctttgacatgtaacatcc c.*840
. . . . . . g.16252
tttttagaggctcagaacacctccttggctgctatctcatgtgttagaatccagtttgtg c.*900
. . . . . . g.16312
gtgaacctctttggaaggggaccccctctctttaaaccctgttcctctgtcctggtaaca c.*960
. . . . . . g.16372
ttctccttctaggagagcctctcttctgagaaggtaaaggaagggctgggtgagacacac c.*1020
. . . . . . g.16432
agctatcctaggagccgtaggaagacaaaacttcccttttgttttactcctcactcctct c.*1080
. . . . . . g.16492
atttttgttttactcacttctttatattttgttttactcctcactcctgtatattttggt c.*1140
. . . . . . g.16552
ttacttactcctctatttcagaaattgaaaaagatccccaaggatctgttactactgcat c.*1200
. . . . . . g.16612
ttccttcttgctctgtctacagcctaggccaactagtcagggtctggacatgcatctcct c.*1260
. . . . . . g.16672
aaaggaagaactgtgtagcaccattgatcacaatgtaacatttccatgctgcattaaggg c.*1320
. . . . . . g.16732
tgtctctctctaatcatgattgtacctgtctcttcctgggtaaagggagatttttttttt c.*1380
. . . . . . g.16792
taatgtgtaaagaattgatgcgagccaggaacatgtctgtagtcccagctacttgggcac c.*1440
. . . . . . g.16852
acgcctgtagtccaggccactcgagcacacacctgtagtaccagctactctggaggctga c.*1500
. . . . . . g.16912
ggcaggaggatcacttgagcccaggagattaagactgtagtatactatgatcgtgcctgt c.*1560
. . . . . . g.16972
ggctagccactgtgctccagcctgggcaacaccatcgtaaaaataaataaataaataaat c.*1620
. . . . . . g.17032
aaattggggaggacagcctcactggtatcagacttacaggaccagatagacaagatgggt c.*1680
. . . . . . g.17092
ataaggggagctgaagtctgtgttcatatgaggaagagaagaccaagccctgggactttg c.*1740
. . . . . . g.17152
gctgaattcctccgtggggctggacggcagtgatctcctgttccctatgtgtaaacaaag c.*1800
. . . . . . g.17212
attccagggcgtggttttgcactcctgttgtactcttttagaggtggaaaagaggtggat c.*1860
. . . . . . g.17272
actgagatctaagaggaaaggatagtcattcacgttctgagatatgcgctctctctattg c.*1920
. . . . . . g.17332
ttctcgtacacaaagggatagtctcttttctggagctgatgtccctgcttggaggttagc c.*1980
. . . . . . g.17392
cccaaaacatggctcttgtattgttctaagagaaaaggctttcattttggttcttctgat c.*2040
. . . . . . g.17452
tggtgttacctactgcctaatatgtgttcattttttgacagagaggcagactattgaaaa c.*2100
. . . . . . g.17512
agtctgtgtgaacagagagcagttcattaagcccattgctttcagtaatgtggccttgac c.*2160
. . . . . . g.17572
cccttctgcttcccccttctcccatggagcatggcagggcttggttatttagagtccata c.*2220
. . . . . . g.17632
catgcaagccattgagagacttgtttgctcaaatgcaagtttgctcaaaaacaggtcctg c.*2280
. . . . . . g.17692
aaggcttgcttaggattacagggatgctgggtaagaacaccgttcctctctctcgctgga c.*2340
. . . . . . g.17752
gaaatccctgtttctctgactccctttgtgatcctcacagtaatgtattctgtgccactg c.*2400
. . . . . . g.17812
taggacacaaggctctgggccagtagaacaggcagagaggtgacactgggcagcaagctg c.*2460
. . . . . . g.17872
agagctctttctaaatggagtgaaggaattcagtggcctagtttcgccattctctaatga c.*2520
. . . . . . g.17932
gaaaccaaggccaggctgaaaagtgcaattagatgtggtggattgtggtaacggcctcca c.*2580
. . . . . . g.17992
gataaaggggttatccctgtggaagtgacttttccccatttgatcccttttcaactctaa c.*2640
. . . . . . g.18052
atggccaggcccagaacagaagaagggttgggtctggaaggaaggctccaaaggatgaaa c.*2700
. . . . . . g.18112
gcttctccctgatcataaggaagtgcatctttatagaattgttgtgcataatgtcagtaa c.*2760
. . . . . . g.18172
atccctctcacttgacaagggactggattcatcttgccttgagacgggccagtagttatc c.*2820
. . . . . . g.18232
agtgagtcaaagcaaagtgaaagtttcaggagatgggaccaatggtgcaatgctcgccat c.*2880
. . . . . . g.18292
aacaaaattccttaaaaataaaaaagctaatgttatagcaacaaaaaaagactgaagcaa c.*2940
. . . . . . g.18352
aaccacactgaaatgcatcccactccaggagaggaattcttagcgtaacactctaaataa c.*3000
. . . . . . g.18412
atggaaggaatcatcaccttccttattttacctctgccttgttcaccaggctgcccagtg c.*3060
. . . . . . g.18472
cttaccatgcagaaagcagtcagctgtactctggaagtttctgttcttctttcctggggc c.*3120
. . . . . . g.18532
ttaggatattctgggagctgtctgagccttgtgcctaaggcttatcaggtgatataatct c.*3180
. . . . . . g.18592
tcctgttctgggctgcttgctggaggaataggaagtgacatttataagacacaggcggtg c.*3240
. . . . . . g.18652
tgagcatccatgtgtggtcttggtctaaaccagctcttgaacaggttaaagcaaacagca c.*3300
. . . . . . g.18712
ataacaaaacaaaaactactgatgctgagcgttttgatcctagtaatatttcaaatattg c.*3360
. . . . . . g.18772
tccttctgcatatgttctatccatatttgattccaatatacattattaagctttcttggg c.*3420
. . . . . . g.18832
tactattttgctggggctcttgcgtgaaggtggtacctgtctcatgatccttaaaagaga c.*3480
. . . . . . g.18892
gaggcttttttcatccaaagctgtagtgttgggaactggggtgggagaggcactttttgg c.*3540
. . . . . . g.18952
aattctgaaagaatcatatctgtgtatatacatactgagtggggaaggatgggggttggc c.*3600
. . . . . . g.19012
aggggttgagggaggtgggaacaaacagtgagtatgggaacaggcagtcacctcgagtgt c.*3660
. . . . . . g.19072
gggaggtcacctgggtccgtcgtcttccttctgtatggtgttgggtttatgtacacacta c.*3720
. . . . . . g.19132
taacacttcctgtgtgagttcatgtacctgtctgtgagtgctttggtgtattgagcctca c.*3780
. . . . . . g.19192
gtacactccaagggcattaaagtcaagaactagaacctgggtgctgtgcctttctttttt c.*3840
. . . . . . g.19252
agagatgtgctctcatctcttctctgacccccactttgccagcaaatattttttatttct c.*3900
. . . . . . g.19312
gcttaaaatgtggtgtgtttggggatgccccacacaacaagacaggcttttccctgagac c.*3960
. . . g.19349
cagcagctgaatttctgccctgaaagggaggtgggcc c.*3997
(downstream sequence)
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