(used for variant description)
(last modified January 12, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_030624.2 in the KLHL15 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012625.1, covering KLHL15 transcript NM_030624.2.
(upstream sequence)
. g.5016
gtttcaactcttgctt c.-241
. . . . | 02 . . g.7157
gaatcaagaacagaagcctctctttagacag | gacttatccagagggggctgcaggcgagc c.-181
. . . . . . g.7217
actctcgtgccccgccggagcgacccggctcgtgccgggagcggctgctcgtagacgtcc c.-121
. . . . . . g.7277
gaggagcctgccgagtgccgtcccggcgcccgaccgcccacccatcggcccgctggcccg c.-61
. . . . . . | 03 g.25493
gttcttcctgatgcagactgccgtccactagaggctggacaggaccccccgag | gtgattc c.-1
. . . . . . g.25553
ATGGCAGGGGACGTGGAAGGATTCTGTTCCTCCATCCACGACACCAGTGTCTCTGCTGGG c.60
M A G D V E G F C S S I H D T S V S A G p.20
. . . . . . g.25613
TTCAGAGCACTGTATGAGGAGGGATTGCTTCTTGATGTCACTCTGGTTATTGAAGATCAT c.120
F R A L Y E E G L L L D V T L V I E D H p.40
. . . . . . g.25673
CAGTTCCAGGCCCATAAAGCACTCTTGGCCACCCAGAGTGATTACTTCAGAATTATGTTT c.180
Q F Q A H K A L L A T Q S D Y F R I M F p.60
. . . . . . g.25733
ACTGCAGACATGAGGGAACGAGATCAGGACAAAATTCATTTAAAAGGTCTAACAGCTACC c.240
T A D M R E R D Q D K I H L K G L T A T p.80
. . . . . . g.25793
GGTTTCAGCCATGTCCTGCAATTTATGTACTATGGAACTATAGAGCTGAGTATGAATACC c.300
G F S H V L Q F M Y Y G T I E L S M N T p.100
. . . . . . g.25853
GTTCATGAGATTCTTCAGGCTGCCATGTATGTTCAACTTATAGAAGTGGTGAAGTTCTGC c.360
V H E I L Q A A M Y V Q L I E V V K F C p.120
. . . . . . g.25913
TGCTCTTTTCTCTTAGCGAAGATCTGCCTAGAAAATTGTGCAGAAATTATGAGACTCTTA c.420
C S F L L A K I C L E N C A E I M R L L p.140
. . . . . . g.25973
GATGATTTCGGCGTAAACATCGAGGGAGTCAGGGAGAAGTTAGACACCTTTCTGCTAGAC c.480
D D F G V N I E G V R E K L D T F L L D p.160
. . . . . . g.26033
AACTTTGTGCCACTCATGTCTAGGCCTGACTTTCTGTCCTATCTGAGCTTTGAGAAGCTC c.540
N F V P L M S R P D F L S Y L S F E K L p.180
. . . . . . g.26093
ATGTCTTACTTGGATAATGATCATCTGAGCAGGTTCCCAGAGATAGAGCTGTACGAGGCT c.600
M S Y L D N D H L S R F P E I E L Y E A p.200
. . . . . . g.26153
GTGCAGTCTTGGCTGCGGCATGATAGAAGACGCTGGAGACATACCGATACCATCATTCAG c.660
V Q S W L R H D R R R W R H T D T I I Q p.220
. . . . | 04 . . g.43171
AATATCCGGTTTTGCTTGATGACCCCAACCAGCGTTTTTGAGAAG | GTTAAGACATCAGAA c.720
N I R F C L M T P T S V F E K | V K T S E p.240
. . . . . . g.43231
TTTTATAGATACTCCCGACAGCTCCGTTACGAAGTTGACCAAGCATTGAATTACTTTCAG c.780
F Y R Y S R Q L R Y E V D Q A L N Y F Q p.260
. . . . . . g.43291
AATGTTCACCAGCAGCCTTTGTTGGATATGAAGTCAAGCCGCATCCGTTCTGCAAAACCG c.840
N V H Q Q P L L D M K S S R I R S A K P p.280
. . . . . . g.43351
CAAACTACAGTATTTCGAGGAATGATTGGACATAGCATGGTTAACAGTAAAATACTTCTC c.900
Q T T V F R G M I G H S M V N S K I L L p.300
. . . . . . g.43411
TTAAAGAAACCAAGAGTCTGGTGGGAGCTAGAAGGCCCACAAGTACCTCTGCGACCTGAC c.960
L K K P R V W W E L E G P Q V P L R P D p.320
. . . . . . g.43471
TGCCTTGCTATCGTCAATAATTTTGTGTTCCTGTTAGGCGGGGAAGAGCTGGGCCCGGAT c.1020
C L A I V N N F V F L L G G E E L G P D p.340
. . . . . . g.43531
GGTGAATTCCATGCTTCTTCCAAAGTATTCAGGTATGACCCGAGACAGAACTCCTGGCTG c.1080
G E F H A S S K V F R Y D P R Q N S W L p.360
. . . . . . g.43591
CAGATGGCAGATATGTCTGTACCACGCTCTGAATTTGCTGTAGGTGTTATTGGGAAGTTT c.1140
Q M A D M S V P R S E F A V G V I G K F p.380
. . . . . . g.43651
ATTTACGCCGTAGCAGGCAGAACCAGAGATGAGACTTTCTATTCAACTGAGAGATATGAC c.1200
I Y A V A G R T R D E T F Y S T E R Y D p.400
. . . . . . g.43711
ATCACCAACGATAAATGGGAATTTGTGGATCCTTATCCAGTTAACAAATATGGACATGAG c.1260
I T N D K W E F V D P Y P V N K Y G H E p.420
. . . . . . g.43771
GGGACAGTGCTCAATAACAAATTGTTTATCACCGGTGGAATCACCTCATCTTCCACCTCC c.1320
G T V L N N K L F I T G G I T S S S T S p.440
. . . . . . g.43831
AAGCAAGTGTGCGTGTTTGACCCCAGCAAAGAAGGGACCATAGAACAACGGACCAGGAGA c.1380
K Q V C V F D P S K E G T I E Q R T R R p.460
. . . . . . g.43891
ACTCAAGTGGTTACCAACTGTTGGGAGAATAAGAGCAAGATGAATTACGCGAGATGCTTT c.1440
T Q V V T N C W E N K S K M N Y A R C F p.480
. . . . . . g.43951
CACAAGATGATTTCTTACAATGGCAAGCTTTATGTCTTCGGTGGTGTCTGTGTGATCTTG c.1500
H K M I S Y N G K L Y V F G G V C V I L p.500
. . . . . . g.44011
AGGGCCTCTTTCGAATCTCAGGGATGCCCTTCTACAGAAGTATACAACCCAGAGACTGAT c.1560
R A S F E S Q G C P S T E V Y N P E T D p.520
. . . . . . g.44071
CAGTGGACCATCTTGGCATCCATGCCGATTGGTAGAAGTGGCCATGGTGTGACTGTGCTG c.1620
Q W T I L A S M P I G R S G H G V T V L p.540
. . . . . . g.44131
GACAAACAAATAATGGTTCTTGGAGGCCTTTGTTATAATGGTCATTACAGCGATTCCATC c.1680
D K Q I M V L G G L C Y N G H Y S D S I p.560
. . . . . . g.44191
CTCACTTTTGATCCGGATGAAAACAAGTGGAAGGAAGATGAGTACCCTCGGATGCCCTGC c.1740
L T F D P D E N K W K E D E Y P R M P C p.580
. . . . . . g.44251
AAGCTGGATGGTTTACAAGTATGCAACCTGCATTTTCCGGACTATGTACTGGATGAGGTC c.1800
K L D G L Q V C N L H F P D Y V L D E V p.600
. g.44266
AGGCGTTGCAACTAA c.1815
R R C N X p.604
. . . . . . g.44326
tgacatcctcctccctaaaaaaagaggcaaacaaagtatttgtttgcacagagtaattaa c.*60
. . . . . . g.44386
ttaaaacatataaagaaaaacctcaccagttttactatcaaagccattggtctaacattg c.*120
. . . . . . g.44446
taagaatttttcattctgtgctagcatcctttttttcttttcagtggcctcaaactcatg c.*180
. . . . . . g.44506
caataagttaattctaagtgctagctcttgaaactacttccagaagcagttgaatagaat c.*240
. . . . . . g.44566
gctccacttatctgggatattgattttctgctttaaacatttctttcagatgttagcgta c.*300
. . . . . . g.44626
ggagtcatgtgtcttctaagagaagacccgataagtgtcactggatgtgatttcagtctc c.*360
. . . . . . g.44686
tgtctctatctgaaacctttttgaagatttatttcagtgtatttcagtctgttatacttt c.*420
. . . . . . g.44746
ttagttttattatttaaaagtttaaaactcttgacctttttgcatggctttttgctgaaa c.*480
. . . . . . g.44806
atgcaaaaatataaattttctacaaaattaactttttatattcaaaacactatttctaag c.*540
. . . . . . g.44866
ctgccttctcttatccgcattgtgttagtgaaagcatattcatactcgcatacaacctat c.*600
. . . . . . g.44926
aaatacacaaggcacatcccttttatgcgtggttaggattctatatttttaagctagtgc c.*660
. . . . . . g.44986
acttacttgcacacacagttcgccatacttgttgaattttagatgtaacgtcttttcaca c.*720
. . . . . . g.45046
tattaacatttttagaaagttgaaataactggagtcctcatttgctatcaaagtagccta c.*780
. . . . . . g.45106
tcttcagtccatactgattcagtaatatttgaactccttatatttctgaaacatgtatgg c.*840
. . . . . . g.45166
ttatgaaaactaacactttatattttattttcaaaagtaaatgttagtgttctttgtcga c.*900
. . . . . . g.45226
tgtatgtcttttctttttgaaaatgtttttctttgcagtctgtttaacgttaccctgttt c.*960
. . . . . . g.45286
ttagtgagaatcggagtggtatatgacaagttctggccctgcagcatgcaagcactttta c.*1020
. . . . . . g.45346
aagagcatttaggtaataccagactcctaaatcaaggccccttaaaagtaagtgcaactc c.*1080
. . . . . . g.45406
ccattttttacattcagtaaggctgctgcatttgttattgaatggaaggtagaaactctt c.*1140
. . . . . . g.45466
agaaaatttgacctcagttttgacttagaggtaagaaatagaattataatgttactggtt c.*1200
. . . . . . g.45526
ttatctacttgtttattttgtacaaaatacccagcgacactagggatgtaagccctcagt c.*1260
. . . . . . g.45586
ttttgttttatttactgaaagctattagcatgaaggatagtaaccacaaagttcagaatg c.*1320
. . . . . . g.45646
gatcaagaatagctgtttaaaagcatttataataagtgttttaggattagctgcaccttt c.*1380
. . . . . . g.45706
caactctttaaatgcagaggaaaaaacatagttgacaaagttaagcaagaataacctggg c.*1440
. . . . . . g.45766
agtggatcattgaaattgatgccatttgcgcatgagtagtctatatctgatacagactag c.*1500
. . . . . . g.45826
atctatactggcaaaacttgccagatcttagaatattggtgcaatattgcaatgccttct c.*1560
. . . . . . g.45886
atatggctgctgatgtataaattttctagtttcactttgtttggtgttttttgttttttt c.*1620
. . . . . . g.45946
gtttgtttgtttgtttttttgctgctgccaccattgaacataaaatggaagtgtgaagtc c.*1680
. . . . . . g.46006
atggaaatgtgaagactttggtttttgggggttttttgggcagttattagacatactatg c.*1740
. . . . . . g.46066
agattaaacctgatcttcaaactccagaattggaggcatttgggtttaagaaaccaggta c.*1800
. . . . . . g.46126
cataagtagcttttgaaaaaaccattggcattgatttcaaaaatcaataataatcttatt c.*1860
. . . . . . g.46186
ttatatatgagacttatattttcattaactagtcctgtcatttacttacagtttccaaac c.*1920
. . . . . . g.46246
atgaaatttggtatcttgtttcccatggtaatatgggtaaaagtctttttctacatttaa c.*1980
. . . . . . g.46306
aaaatacattattttatttttgaaagttaggaataagttagccatttaatttttttctac c.*2040
. . . . . . g.46366
attagtttagtggctttgtatgtgtgctattttgctttaaagaaaataacgtcttcatta c.*2100
. . . . . . g.46426
ttttcctcattgatgtcttttgctagaaaagaccaagaaagagccatcaggccaggtatc c.*2160
. . . . . . g.46486
cacatcaaagcctttacactatagtggtggttctctttaattgcttagatatgacttcat c.*2220
. . . . . . g.46546
gaccctagtcagggtgacatctgggcaaacatttgagtattcttggtcttccattttaaa c.*2280
. . . . . . g.46606
gacagaggccaagatcaaagttcatgttttgtaaaattcgtaaaatcttaacttgaacta c.*2340
. . . . . . g.46666
actctgggttcagctttacgtaagtcacgtcggacctgatgttagctgtaatcagttttg c.*2400
. . . . . . g.46726
agctttaaggatagttgctgttgcttgggttctgaatgtatgagaaaactccctgtttat c.*2460
. . . . . . g.46786
atgtagttctaatttaggttattttaaatccatgattaacttacattcccttttaaaatt c.*2520
. . . . . . g.46846
atggttttattgctgcaagagatttatttttgttatactaaactatggaaaagtttttca c.*2580
. . . . . . g.46906
tagcatttttttcaagtttattttttgtgtgcttcatttggagtttttgtttatatacat c.*2640
. . . . . . g.46966
tgcgctcaaaaaagtagttttttgaaaaattcagtaagatttgaatctatacagtttaac c.*2700
. . . . . . g.47026
tgttatgacctttatgcgtgttgttttcactttatatctcaaatgccagagttcacaaaa c.*2760
. . . . . . g.47086
atagctgatcttcattaattacatcttaattagaaccatttgttctcttccgtgtctttg c.*2820
. . . . . . g.47146
accttctaagttttgattttaaagaaattccttgcactacagccttttcttaaaatgcaa c.*2880
. . . . . . g.47206
gattctcactttgaaggttttgtgttggaagaaatgctactggtttttaaaaagcaaagc c.*2940
. . . . . . g.47266
ttaactaatagaattattagcttttcttgagacagctttctgtgtcctcattactctgct c.*3000
. . . . . . g.47326
ctgtgtgagtgttactagaatttgtgaaatactgactgagcccttcacttatcttttcta c.*3060
. . . . . . g.47386
aagcagcacctttggacacctcattctgggaagcctgctcgagtcatagtaaaggacaca c.*3120
. . . . . . g.47446
cgctttatgtggggagaagtggtaaaaatggagttttgtcttaattacatgaaactaagc c.*3180
. . . . . . g.47506
tttaaaatattttataacagattatttgagctgcataatctaaacatgtcaaacgttcag c.*3240
. . . . . . g.47566
tgggactatttttatatatgtatatgtgggtgtaggtcataacatttcagtttataatat c.*3300
. . . . . . g.47626
aaattgttatttcagtttataagctatctctcagaggagactagctcttttgagaattca c.*3360
. . . . . . g.47686
taatttaaagttttagactgaagtaaaatgcaacatagataatagtgtaaatcagatata c.*3420
. . . . . . g.47746
attgagggctatatggcagtaaaactgctagtgccagttttcttgtttgcctgttataca c.*3480
. . . . . . g.47806
tttttgatttttgtttttgtattctgaacattttgagagatcatatgtttgttcaattac c.*3540
. . . . . . g.47866
atttagagttggtttgggaataaatatcttctaaaaagagatttatcttaaaaatggaag c.*3600
. . . . . . g.47926
tcctaaaaattagtttatccagagtttataaagtcaaatattcagtaggcatagactgga c.*3660
. . . . . . g.47986
atagataaattcatggaaatcatatcctttcagtacaccgtataacttcaatattacaca c.*3720
. . . . . . g.48046
agtaacattgaggagaatgccatcagctttgttctcccttaaattctttggttttctttt c.*3780
. . . . . . g.48106
tacattttgggaacaactgcatttaaaatgttattagtcagtatatagtaaggattaggt c.*3840
. . . . . . g.48166
gtttgctttctgaaggaatggtccagtgaggtgattgggagaggttattttctacctaac c.*3900
. . . . . . g.48226
ttgtatatgccctatacctcttgggcatactttgtctatagaaaaatattttgaccttta c.*3960
. . . . . . g.48286
ggtacattttgggccagtagtcaaataatcctagggccgatataaaaatcttagaataat c.*4020
. . . . . . g.48346
ttaaggtttgccttttatacctgttttgaaagcctttacatttttgtcaggtaatttttc c.*4080
. . . . . . g.48406
ccaagccgtggatataatctattcaaacatgtttatgctatccattctgtttttaaattg c.*4140
. . . . . . g.48466
aaaaaaatgttaaaagtgtttatgaagaaaagtttaaataaaatatttttaatctttaaa c.*4200
g.48471
atata c.*4205
(downstream sequence)
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