(used for variant description)
(last modified May 18, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001287.5 in the CLCN7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007567.1, covering CLCN7 transcript NM_001287.5.
(upstream sequence)
. . . . . g.5050
gtcgctcatcacgtggccccgtcgcgcgtcacgtggccgccggcgcgggt c.-61
. . . . . . g.5110
cacgagaacaaacacgggggcagccggcgcttcccggccggtgtcgctccgcggcgggcc c.-1
. . . . . . g.5170
ATGGCCAACGTCTCTAAGAAGGTGTCCTGGTCCGGCCGGGACCGGGACGACGAGGAGGCG c.60
M A N V S K K V S W S G R D R D D E E A p.20
. . . . . . g.5230
GCGCCGCTGCTGCGGAGGACGGCGCGGCCCGGCGGGGGGACGCCGCTGCTGAACGGGGCT c.120
A P L L R R T A R P G G G T P L L N G A p.40
. . | 02 . . . . g.14785
GGGCCTGGGGCTGCGCGCCAG | TCACCACGTTCTGCGCTTTTCCGAGTCGGACATATGAGC c.180
G P G A A R Q | S P R S A L F R V G H M S p.60
. . . | 03 . . . g.18437
AGCGTGGAGCTGGATGATGAACTTTTGGACCCG | GATATGGACCCTCCACATCCCTTCCCC c.240
S V E L D D E L L D P | D M D P P H P F P p.80
. . . . | 04 . . g.18629
AAGGAGATCCCACACAACGAGAAGCTCCTGTCCCTCAAGTATGAG | AGCTTGGACTATGAC c.300
K E I P H N E K L L S L K Y E | S L D Y D p.100
. . . . . | 05 . g.19145
AACAGTGAGAACCAGCTGTTCCTGGAGGAGGAGCGGCGGATCAATCACACG | GCCTTCCGG c.360
N S E N Q L F L E E E R R I N H T | A F R p.120
. . . . . . g.19205
ACGGTGGAGATCAAGCGCTGGGTCATCTGCGCCCTCATTGGGATCCTCACGGGCCTCGTG c.420
T V E I K R W V I C A L I G I L T G L V p.140
. . . . . . g.19265
GCCTGCTTCATTGACATCGTGGTGGAAAACCTGGCTGGCCTCAAGTACAGGGTCATCAAG c.480
A C F I D I V V E N L A G L K Y R V I K p.160
| 06 . . . . . . g.19613
GGCA | ATATCGACAAGTTCACAGAGAAGGGCGGACTGTCCTTCTCCCTGTTGCTGTGGGCC c.540
G N | I D K F T E K G G L S F S L L L W A p.180
. . . . . | 07 . g.20903
ACGCTGAACGCCGCCTTCGTGCTCGTGGGCTCTGTGATTGTGGCTTTCATAGAG | CCGGTG c.600
T L N A A F V L V G S V I V A F I E | P V p.200
. . . . . . g.20963
GCTGCTGGCAGCGGAATCCCCCAGATCAAGTGCTTCCTCAACGGGGTGAAGATCCCCCAC c.660
A A G S G I P Q I K C F L N G V K I P H p.220
. | 08 . . . . . g.22373
GTGGTGCGGCTCAAG | ACGTTGGTGATCAAAGTGTCCGGTGTGATCCTGTCCGTGGTCGGG c.720
V V R L K | T L V I K V S G V I L S V V G p.240
. | 09 . . . . g.22789
GGCCTGGCCGTGGGAAAG | GAAGGGCCGATGATCCACTCAGGTTCAGTGATTGCCGCCGGG c.780
G L A V G K | E G P M I H S G S V I A A G p.260
. . . . | 10 . . g.23896
ATCTCTCAGGGAAGGTCAACGTCACTGAAACGAGATTTCAAG | ATCTTCGAGTACTTCCGC c.840
I S Q G R S T S L K R D F K | I F E Y F R p.280
. . . . . . g.23956
AGAGACACAGAGAAGCGGGACTTCGTCTCCGCAGGGGCTGCGGCCGGAGTGTCAGCGGCG c.900
R D T E K R D F V S A G A A A G V S A A p.300
. | 11 . . . . . g.24333
TTTGGAGCCCCCGTGG | GTGGGGTCCTGTTCAGCTTGGAGGAGGGTGCGTCCTTCTGGAAC c.960
F G A P V G | G V L F S L E E G A S F W N p.320
. . | 12 . . . . g.24873
CAGTTCCTGACCTGGAGGATC | TTCTTTGCTTCCATGATCTCCACGTTCACCCTGAATTTT c.1020
Q F L T W R I | F F A S M I S T F T L N F p.340
. . . . . . g.24933
GTTCTGAGCATTTACCACGGGAACATGTGGGACCTGTCCAGCCCAGGCCTCATCAACTTC c.1080
V L S I Y H G N M W D L S S P G L I N F p.360
. | 13 . . . . g.25661
GGAAGGTTTGACTCGGAG | AAAATGGCCTACACGATCCACGAGATCCCGGTCTTCATCGCC c.1140
G R F D S E | K M A Y T I H E I P V F I A p.380
. | 14 . . . . . g.26237
ATGGGCGTGGTGG | GCGGTGTGCTTGGAGCAGTGTTCAATGCCTTGAACTACTGGCTGACC c.1200
M G V V G | G V L G A V F N A L N Y W L T p.400
. | 15 . . . . . g.27237
ATGTTTCGAATCAG | GTACATCCACCGGCCCTGCCTGCAGGTGATTGAGGCCGTGCTGGTG c.1260
M F R I R | Y I H R P C L Q V I E A V L V p.420
. . . . . . g.27297
GCCGCCGTCACGGCCACAGTTGCCTTCGTGCTGATCTACTCGTCGCGGGATTGCCAGCCC c.1320
A A V T A T V A F V L I Y S S R D C Q P p.440
. . . | 16 . . . g.28395
CTGCAGGGGGGCTCCATGTCCTACCCGCTGCAG | CTCTTTTGTGCAGATGGCGAGTACAAC c.1380
L Q G G S M S Y P L Q | L F C A D G E Y N p.460
. . . . . . g.28455
TCCATGGCTGCGGCCTTCTTCAACACCCCGGAGAAGAGCGTGGTGAGCCTCTTCCACGAC c.1440
S M A A A F F N T P E K S V V S L F H D p.480
| 17. . . . . . g.29471
CCGCCAG | GCTCCTACAACCCCCTGACCCTCGGCCTGTTCACGCTGGTCTACTTCTTCCTG c.1500
P P G | S Y N P L T L G L F T L V Y F F L p.500
. . . . . . g.29531
GCCTGCTGGACCTACGGGCTCACGGTGTCTGCCGGGGTCTTCATCCCGTCCCTGCTCATC c.1560
A C W T Y G L T V S A G V F I P S L L I p.520
. . . . . | 18. g.30760
GGGGCTGCCTGGGGCCGGCTCTTTGGGATCTCCCTGTCCTACCTCACGGGGGCGGCG | ATC c.1620
G A A W G R L F G I S L S Y L T G A A | I p.540
. . . . | 19 . g.31002
TGGGCGGACCCCGGCAAATACGCCCTGATGGGAGCTGCTGCCCAGCTGG | GCGGGATTGTG c.1680
W A D P G K Y A L M G A A A Q L G | G I V p.560
. . . . . . g.31062
CGGATGACACTGAGCCTGACCGTCATCATGATGGAGGCCACCAGCAACGTGACCTACGGC c.1740
R M T L S L T V I M M E A T S N V T Y G p.580
. . . . . | 20. g.31321
TTCCCCATCATGCTGGTGCTCATGACCGCCAAGATCGTGGGCGACGTCTTCATTGAG | GGC c.1800
F P I M L V L M T A K I V G D V F I E | G p.600
. . . . . . g.31381
CTGTACGACATGCACATTCAGCTGCAGAGTGTGCCCTTCCTGCACTGGGAGGCCCCGGTC c.1860
L Y D M H I Q L Q S V P F L H W E A P V p.620
. . | 21 . . . . g.31637
ACCTCACACTCACTCACTGCCAG | GGAGGTGATGAGCACACCAGTGACCTGCCTGAGGCGG c.1920
T S H S L T A R | E V M S T P V T C L R R p.640
. . . . . . g.31697
CGTGAGAAGGTCGGCGTCATTGTGGACGTGCTGAGCGACACGGCGTCCAATCACAACGGC c.1980
R E K V G V I V D V L S D T A S N H N G p.660
. . . | 22 . . . g.32397
TTCCCCGTGGTGGAGCATGCCGATGACACCCAG | CCTGCCCGGCTCCAGGGCCTGATCCTG c.2040
F P V V E H A D D T Q | P A R L Q G L I L p.680
. . . | 23 . . . g.32543
CGCTCCCAGCTCATCGTTCTCCTAAAGCACAAG | GTGTTTGTGGAGCGGTCCAACCTGGGC c.2100
R S Q L I V L L K H K | V F V E R S N L G p.700
. . . . . . g.32603
CTGGTACAGCGGCGCCTGAGGCTGAAGGACTTCCGAGACGCCTACCCGCGCTTCCCACCC c.2160
L V Q R R L R L K D F R D A Y P R F P P p.720
. . . . . . g.32663
ATCCAGTCCATCCACGTGTCCCAGGACGAGCGGGAGTGCACCATGGACCTCTCCGAGTTC c.2220
I Q S I H V S Q D E R E C T M D L S E F p.740
. . . | 24 . . . g.33028
ATGAACCCCTCCCCCTACACGGTGCCCCAG | GAGGCGTCGCTCCCACGGGTGTTCAAGCTG c.2280
M N P S P Y T V P Q | E A S L P R V F K L p.760
. . . . . | 25 . g.33376
TTCCGGGCCCTGGGCCTGCGGCACCTGGTGGTGGTGGACAACCGCAATCAG | GTTGTCGGG c.2340
F R A L G L R H L V V V D N R N Q | V V G p.780
. . . . . . g.33436
TTGGTGACCAGGAAGGACCTCGCCAGGTACCGCCTGGGAAAGAGAGGCTTGGAGGAGCTC c.2400
L V T R K D L A R Y R L G K R G L E E L p.800
. g.33454
TCGCTGGCCCAGACGTGA c.2418
S L A Q T X p.805
. . . . . . g.33514
ggcccagccctgcccataatgggcactggcgctggcaccccggcccttctgcatttcctc c.*60
. . . . . . g.33574
ccggagtcactggtttctcggcccaaaccatgctccccagcagtggcaatggcgagcacc c.*120
. . . . . . g.33634
ctgcagctgggcgggcaggcggcaggcgcggaactgaccctctcgcgggactgaccctgt c.*180
. . . . . . g.33694
tgtgggcagtggtctccccccttggcgcctccttgcgcaggcccagcctccactctcctc c.*240
. . . . . . g.33754
gtctaggtttctttacctccagggatcagctgtgtgtgtgtgacctccctaccgggctat c.*300
. . . . . . g.33814
cggcctcttgggagccagcggcagggccggcacctgcgtgcctgtgcccgtgtgcgtgag c.*360
. . . . . . g.33874
acagagcccttgcccctgctgctgccccgagggctgccctgccctggaagggcccctctg c.*420
. . . . . . g.33934
cctccacaccagtggagtcttcgagacttgggagctgcttggcctcattttcagccatga c.*480
. . . . . . g.33994
gcagacggcctgtggtccctgggcctgaggcacggactcgtagcaccagggtttggaggc c.*540
. . . . . . g.34054
tgcgaccgccccggagagcagcttcacactggcgccacagaggagccccacgtgcactcc c.*600
. . . . . . g.34114
ccggcctgcatccggcttgggtacacaggcccagaggactggggtgactcacgggccctg c.*660
. . . . . . g.34174
tgctgtgatgttgagagctgagaaaaacctccaaggccctgagccccatgcccagccctg c.*720
. . . . . . g.34234
ccttggtcccccaacccccagagcttggagtctgggccccacacccagccctgccttggt c.*780
. . . . . . g.34294
ccctgagcctcagagcgtggaattgctgccctgtggacactggctgggaaggcaggtctt c.*840
. . . . . . g.34354
cccctagcacatggggaccccggcctcgagggtgacctccctaccccgcccctgccagcc c.*900
. . . . . . g.34414
accaagcgcaggtgcagcgggggccagactcctgccggcctcagaggacacctggcccag c.*960
. . . . . . g.34474
cacaggcagctagaagggccggtgggcaccggggccgggaagcccccacctcaccacctg c.*1020
. . . . . . g.34534
agggcccctgggaggctcctctggcctggctgggctgggtctggggccgccacaggcccc c.*1080
. . . . . . g.34594
tcacggggcggcagaggcaacttcagtgtccctgttagagcaacacgggtccctccgtgg c.*1140
. . . . . . g.34654
ggggctgggtgcggccccctgccgtgtatttcctccccagggagtggggcctccccggga c.*1200
. . . . . . g.34714
gctgacgccaccaccctgcttagccctcacagggccccaaggtgtccgagtgtgttgggt c.*1260
. . . . . . g.34774
ctgaacgcgaaataaagaaatcctctcagcccgcctttgccagcgtcgtccctcccaccc c.*1320
. . . . . . g.34834
cacccagaccacgtccaacagcctgggactttcgggaccctggggtcggggcaccgtgtg c.*1380
. . . . . . g.34894
gagtgagaaaggcgtgaaagacagcggctgcggccacccagggcaccagccacatcctct c.*1440
. . . . . . g.34954
tcctcgtccccgcccctcagcctccctcctctggctcctggctggtgggtctgggggcaa c.*1500
. . . . . . g.35014
ggcagaggcgctccaggtggaggggggcgggccggggtgcccacgctggggtgacgcaag c.*1560
. . . . . . g.35074
aagaaaactcccgggcctcagagtcggcgccggaaacctaggtctgggtttccctcgtgg c.*1620
. . . . . . g.35134
tggttgtgtactgaggacctggaagtgatcatattttggatatattcggttaaataaaat c.*1680
. g.35152
cagcggttaggattcaca c.*1698
(downstream sequence)
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