(used for variant description)
(last modified April 3, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001286.3 in the CLCN6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008766.1, covering CLCN6 transcript NM_001286.3.
(upstream sequence)
. . . . g.4993
atcgtcatgtgacgcgagtcctcgccccacccgtctgcagccactcc c.-121
. . . . . . g.5053
tggtctcagtcccagagctcgagagggccacgtgaccgtcccggggccagtcacgtgagg c.-61
. . . . . . g.5113
cgcagatcctggctgggagggggttggtagaggggtccagagtggcagtaaaggaggaag c.-1
. . . . . . g.5173
ATGGCGGGGTGCAGGGGGTCTCTGTGCTGCTGCTGCAGGTGGTGCTGCTGCTGCGGTGAG c.60
M A G C R G S L C C C C R W C C C C G E p.20
. . | 02. . . . g.6014
CGTGAGACCCGCACCCCCGAGGAGCTG | ACCATCCTTGGAGAAACACAGGAGGAGGAGGAT c.120
R E T R T P E E L | T I L G E T Q E E E D p.40
. . | 03. . . . g.14729
GAGATTCTTCCAAGGAAAGACTATGAG | AGTTTGGATTATGATCGCTGTATCAATGACCCT c.180
E I L P R K D Y E | S L D Y D R C I N D P p.60
. . . | 04 . . . g.15492
TACCTGGAAGTTTTGGAGACCATGGATAATAAG | AAAGGTCGAAGATATGAGGCGGTGAAG c.240
Y L E V L E T M D N K | K G R R Y E A V K p.80
. . . | 05 . . g.18359
TGGATGGTGGTGTTTGCCATTGGAGTCTGCACTGGCCTG | GTGGGTCTCTTTGTGGACTTT c.300
W M V V F A I G V C T G L | V G L F V D F p.100
. . . . | 06 . . g.21559
TTTGTGCGACTCTTCACCCAACTCAAGTTCGGAGTGGTACAGACAT | CGGTGGAGGAGTGC c.360
F V R L F T Q L K F G V V Q T S | V E E C p.120
. . . . . . g.21619
AGCCAGAAAGGCTGCCTCGCTCTGTCTCTCCTTGAACTCCTGGGTTTTAACCTCACCTTT c.420
S Q K G C L A L S L L E L L G F N L T F p.140
. . . | 07 . . . g.22584
GTCTTCCTGGCAAGCCTCCTTGTTCTCATTGAG | CCGGTGGCAGCAGGTTCCGGGATACCC c.480
V F L A S L L V L I E | P V A A G S G I P p.160
. . . . . . g.22644
GAGGTCAAATGCTATCTGAATGGCGTAAAGGTGCCAGGAATCGTCCGTCTCCGGACCCTG c.540
E V K C Y L N G V K V P G I V R L R T L p.180
. . . . | 08 . . g.23356
CTCTGCAAGGTCCTTGGAGTGCTGTTCAGTGTGGCTGGAG | GGCTCTTCGTGGGGAAGGAA c.600
L C K V L G V L F S V A G G | L F V G K E p.200
. . . . | 09 . g.25018
GGCCCCATGATCCACAGTGGTTCGGTGGTGGGAGCTGGCCTCCCTCAG | TTTCAGAGCATC c.660
G P M I H S G S V V G A G L P Q | F Q S I p.220
. . . . | 10. . g.25952
TCCTTACGGAAGATCCAGTTTAACTTCCCCTATTTCCGAAGCGACAG | AGACAAGAGAGAC c.720
S L R K I Q F N F P Y F R S D R | D K R D p.240
. . . . . . g.26012
TTTGTATCAGCAGGAGCGGCTGCTGGAGTTGCTGCAGCTTTCGGGGCGCCAATCGGGGGT c.780
F V S A G A A A G V A A A F G A P I G G p.260
. . . . . . g.26072
ACCTTGTTCAGTCTAGAGGAGGGTTCGTCCTTCTGGAACCAAGGGCTCACGTGGAAAGTG c.840
T L F S L E E G S S F W N Q G L T W K V p.280
| 11 . . . . . . g.27016
| CTCTTTTGTTCCATGTCTGCCACCTTCACCCTCAACTTCTTCCGTTCTGGGATTCAGTTT c.900
| L F C S M S A T F T L N F F R S G I Q F p.300
. . . . . | 12 . g.27314
GGAAGCTGGGGTTCCTTCCAGCTCCCTGGATTGCTGAACTTTGGCGAGTTTAAG | TGCTCT c.960
G S W G S F Q L P G L L N F G E F K | C S p.320
. . . . . . g.27374
GACTCTGATAAAAAATGTCATCTCTGGACAGCTATGGATTTGGGTTTCTTCGTCGTGATG c.1020
D S D K K C H L W T A M D L G F F V V M p.340
. . . . . . g.27434
GGGGTCATTGGGGGCCTCCTGGGAGCCACATTCAACTGTCTGAACAAGAGGCTTGCAAAG c.1080
G V I G G L L G A T F N C L N K R L A K p.360
. . . . | 13 . . g.28065
TACCGTATGCGAAACGTGCACCCGAAACCTAAGCTCGTCAG | AGTCTTAGAGAGCCTCCTT c.1140
Y R M R N V H P K P K L V R | V L E S L L p.380
. . . . . . g.28125
GTGTCTCTGGTAACCACCGTGGTGGTGTTTGTGGCCTCGATGGTGTTAGGAGAATGCCGA c.1200
V S L V T T V V V F V A S M V L G E C R p.400
. . . . | 14 . g.32377
CAGATGTCCTCTTCGAGTCAAATCGGTAATGACTCATTCCAGCTCCAG | GTCACAGAAGAT c.1260
Q M S S S S Q I G N D S F Q L Q | V T E D p.420
. . . . . . g.32437
GTGAATTCAAGTATCAAGACATTTTTTTGTCCCAATGATACCTACAATGACATGGCCACA c.1320
V N S S I K T F F C P N D T Y N D M A T p.440
. . . . . | 15 . g.32735
CTCTTCTTCAACCCGCAGGAGTCTGCCATCCTCCAGCTCTTCCACCAGGATG | GTACTTTC c.1380
L F F N P Q E S A I L Q L F H Q D G | T F p.460
. . . . . . g.32795
AGCCCCGTCACTCTGGCCTTGTTCTTCGTTCTCTATTTCTTGCTTGCATGTTGGACTTAC c.1440
S P V T L A L F F V L Y F L L A C W T Y p.480
. . . . . . g.32855
GGCATTTCTGTTCCAAGTGGCCTTTTTGTGCCTTCTCTGCTGTGTGGAGCTGCTTTTGGA c.1500
G I S V P S G L F V P S L L C G A A F G p.500
. . | 16 . . . . g.33120
CGTTTAGTTGCCAATGTCCTAAAAAG | CTACATTGGATTGGGCCACATCTATTCGGGGACC c.1560
R L V A N V L K S | Y I G L G H I Y S G T p.520
. . . . . . g.33180
TTTGCCCTGATTGGTGCAGCGGCTTTCTTGGGCGGGGTGGTCCGCATGACCATCAGCCTC c.1620
F A L I G A A A F L G G V V R M T I S L p.540
. . . . . . g.33240
ACGGTCATCCTGATCGAGTCCACCAATGAGATCACCTACGGGCTCCCCATCATGGTCACA c.1680
T V I L I E S T N E I T Y G L P I M V T p.560
| 17 . . . . . . g.33388
CTGATG | GTGGCCAAATGGACAGGGGACTTTTTCAATAAGGGCATTTATGATATCCACGTG c.1740
L M | V A K W T G D F F N K G I Y D I H V p.580
. . . . . | 18 . g.34824
GGCCTGCGAGGCGTGCCGCTTCTGGAATGGGAGACAGAGGTGGAAATGGACAA | GCTGAGA c.1800
G L R G V P L L E W E T E V E M D K | L R p.600
. . . . . . g.34884
GCCAGCGACATCATGGAGCCCAACCTGACCTACGTCTACCCGCACACCCGCATCCAGTCT c.1860
A S D I M E P N L T Y V Y P H T R I Q S p.620
. . . . . . g.34944
CTGGTGAGCATCCTGCGCACCACGGTCCACCATGCCTTCCCGGTGGTCACAGAGAACCGC c.1920
L V S I L R T T V H H A F P V V T E N R p.640
. . . . . . g.35004
GGTAACGAGAAGGAGTTCATGAAGGGCAACCAGCTCATCAGCAACAACATCAAGTTCAAG c.1980
G N E K E F M K G N Q L I S N N I K F K p.660
| 19 . . . . . . g.35909
| AAATCCAGCATCCTCACCCGGGCTGGCGAGCAGCGCAAACGGAGCCAGTCCATGAAGTCC c.2040
| K S S I L T R A G E Q R K R S Q S M K S p.680
. . . . . . g.35969
TACCCATCCAGCGAGCTACGGAACATGTGTGATGAGCACATCGCCTCTGAGGAGCCAGCC c.2100
Y P S S E L R N M C D E H I A S E E P A p.700
. . . | 20 . . g.36215
GAGAAGGAGGACCTCCTGCAGCAGATGCTGGAAAGGAG | ATACACTCCCTACCCCAACCTA c.2160
E K E D L L Q Q M L E R R | Y T P Y P N L p.720
. . . . . . g.36275
TACCCTGACCAGTCCCCAAGTGAAGACTGGACCATGGAGGAGCGGTTCCGCCCTCTGACC c.2220
Y P D Q S P S E D W T M E E R F R P L T p.740
. . . . . . g.36335
TTCCACGGCCTGATCCTTCGGTCGCAGCTTGTCACCCTGCTTGTCCGAGGAGTTTGTTAC c.2280
F H G L I L R S Q L V T L L V R G V C Y p.760
. | 21 . . . . . g.37230
TCTGAAAGCCAGTCG | AGCGCCAGCCAGCCGCGCCTCTCCTATGCCGAGATGGCCGAGGAC c.2340
S E S Q S | S A S Q P R L S Y A E M A E D p.780
. . . . . . g.37290
TACCCGCGGTACCCCGACATCCACGACCTGGACCTGACGCTGCTCAACCCGCGCATGATC c.2400
Y P R Y P D I H D L D L T L L N P R M I p.800
| 22 . . . . . . g.37442
GTG | GATGTCACCCCATACATGAACCCTTCGCCTTTCACCGTCTCGCCCAACACCCACGTC c.2460
V | D V T P Y M N P S P F T V S P N T H V p.820
. . . . . . g.37502
TCCCAAGTCTTCAACCTGTTCAGAACGATGGGCCTGCGCCACCTGCCCGTGGTGAACGCT c.2520
S Q V F N L F R T M G L R H L P V V N A p.840
| 23 . . . . . g.39044
GTGGGAGAG | ATCGTGGGGATCATCACACGGCACAACCTCACCTATGAATTTCTGCAGGCC c.2580
V G E | I V G I I T R H N L T Y E F L Q A p.860
. . . g.39074
CGGCTGAGGCAGCACTACCAGACCATCTGA c.2610
R L R Q H Y Q T I X p.869
. . . . . . g.39134
cagcccagcccaccctctcctggtgctgcctggggaggcaaatcatgctcactccggcgg c.*60
. . . . . . g.39194
gcacagctggctggggctgttccggggcatggaagattcccagtcacccactcactcaga c.*120
. . . . . . g.39254
aagccgggagtcatcggacaccttgctggtcagaggtcctgggggtggttttgaaccatc c.*180
. . . . . . g.39314
agagcttggacttttctgacttccccagcaaggatcttcccacttcctgctccctgtgtt c.*240
. . . . . . g.39374
cccaccctccagtgttggcacaggcccacccctggctccaccagagccagaagcagaggt c.*300
. . . . . . g.39434
agaatcaggcgggccccgggctgcactccgagcagtgttcctggccatctttgctacttt c.*360
. . . . . . g.39494
cctagagaacccggctgttgccttaaatgtgtgagagggacttggccaaggcaaaagctg c.*420
. . . . . . g.39554
gggagatgccagtgacaacatacagttcatgactaggtttaggaattgggcactgagaaa c.*480
. . . . . . g.39614
attctcaatatttcagagagtccttcccttatttgggactcttaacacggtatcctcgct c.*540
. . . . . . g.39674
agttggttttaagggaaacactctgctcctgggtgtgagcagaggctctggtcttgccct c.*600
. . . . . . g.39734
gtggtttgactctccttagaaccaccgcccaccagaaacataaaggattaaaatcacact c.*660
. . . . . . g.39794
aataacccctggatggtcaatctgataataggatcagatttacgtctaccctaattctta c.*720
. . . . . . g.39854
acattgcagctttctctccatctgcagattattcccagtctcccagtaacacgtttctac c.*780
. . . . . . g.39914
ccagatcctttttcatttccttaagttttgatctccgtcttcctgatgaagcaggcagag c.*840
. . . . . . g.39974
ctcagaggatcttggcatcacccaccaaagttagctgaaagcagggcactcctggataaa c.*900
. . . . . . g.40034
gcagcttcactcaactctggggaatgctaccattttttttccaaagtagaaaggaagcac c.*960
. . . . . . g.40094
ttctgagccagtgaccactgaaaggtatgtgctatgataaagcagatggcctatttgagg c.*1020
. . . . . . g.40154
aagagggtgtctgcccttcacaaacacctctctctcccctgcactagctgtcccaagctt c.*1080
. . . . . . g.40214
acatacagaggcccttcaggagggcctcctgtgccgcagggagggtgcgtggggaagatg c.*1140
. . . . . . g.40274
cttcctgccagcacgtgcctgaaggtttcacatgaagcatgggaagcgcaccctgtcgtt c.*1200
. . . . . . g.40334
cagtgacgtcattcttctccaggctggcccgccccctctgactaggcacccaaagtgagc c.*1260
. . . . . . g.40394
atctgggcattgggcattcatgcttatcttcccccaccttctacatggtattagtcccag c.*1320
. . . . . . g.40454
caggcatccctggggcagacgtgctttggctcaagatggccttcatttacgtttagtttt c.*1380
. . . . . . g.40514
ttttaaaaccgtggaggttgcccacgggcctcggcacctggccctggcagcacagctctc c.*1440
. . . . . . g.40574
aggcccagccctgggcgacctccttggccaagtctgcctttcaccctggggtgagcatca c.*1500
. . . . . . g.40634
gtcctggctctgctggtccagatcttgcgctcagcacactctagggaataattccactcc c.*1560
. . . . . . g.40694
agagatggggctgcttcaaggtcttttctagctgattgtggcccctccattttccccatt c.*1620
. . . . . . g.40754
ttcttatctccctgaccaaaattgctttgacttctaaatgtttctgcttcccagaatgca c.*1680
. . . . . . g.40814
cctgacttatgaaatggggataatactcccaggaaatagcgcaggacatcacaaggacca c.*1740
. . . . . . g.40874
aaaaggcaattcttatttaaatgttactatttggccagctgctgctgtgttttatggcag c.*1800
. . . . . . g.40934
tgttcagagcttgatcacgttatttcttccttttattaagaaggaagccaattgtccaag c.*1860
. . . . . . g.40994
tcaggagaatggtgtgatcacctgtcacagacactttgtcccctctccccgccccttcct c.*1920
. . . . . . g.41054
ggagctggcagagctaacgccctgcaggaggaccccggcctctcgagggctggatcagca c.*1980
. . . . . . g.41114
gccgcctgccctgaggctgccccggtgaatgttattggaattcatccctcgtgcacatcc c.*2040
. . . . . . g.41174
tgttgtgtttaagtcaccagatattttgttcccatcagtttagcccagagatagacagta c.*2100
. . . . . . g.41234
gaatgcaaatacctccctcccctaaactgactggacggctgccaaggaggccccaaaccc c.*2160
. . . . . . g.41294
aggccccatgcaaaggcacgtggtttccttttctcctctctctgcatctgcgctttccag c.*2220
. . . . . . g.41354
ataagcccaaagacagcaacttctccactcatgacaaatcaactgtgaccctcgctcctt c.*2280
. . . . . . g.41414
ccatttctgtccattagaaaccagccttttcagcatctcacccattagcagccccatcac c.*2340
. . . . . . g.41474
ccagtgatcagtcgcctcagtaaagcagatctgtggatggggagcctacgggtggtaaga c.*2400
. . . . . . g.41534
agtggtgttttgtgtttcatctccagcttggtgttccatggcccctaggcgaggtgatca c.*2460
. . . . . . g.41594
gggagtggggccaatgggcccccggccctggctttgggaccttgtgctgagggatgattt c.*2520
. . . . . . g.41654
gctcctgaccttgattaacttaacagttcccagctggaagggacactttcaggacccagt c.*2580
. . . . . . g.41714
ccactgtatggcatttgtgatgcagaattatgcactgacatgaccctgggtgacaggaaa c.*2640
. . . . . . g.41774
gcctttcgagaggcccaaggtggcctcgccagccctgcagtattgatgtgcagtattgca c.*2700
. . . . . . g.41834
ccacagctctgcggaccttggccattgccgcagtcgcagcttccttttttctgtttgcac c.*2760
. . . . . . g.41894
tgtttgtttgtatgatgttagctaattccactgtgtatataaattgtattttttttaatt c.*2820
. . . . . . g.41954
tgtaaaatgctatttttatttgaacctttggaacttgggagttctcattgtaaccctaac c.*2880
. . . . g.41995
atgtgagaataaaatgtcttctgtctcctctgtctccttta c.*2921
(downstream sequence)
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