(used for variant description)
(last modified October 12, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000085.4 in the CLCNKB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013079.1, covering CLCNKB transcript NM_000085.4.
(upstream sequence)
. . . g.5016
attctaagtgttcgccataaaccctgggccca c.-121
. . . . . . g.5076
ggcgggaaaggggggaggatgttgattgttggaacacacacctgtccaggtgcaggggag c.-61
. . . . . . | 02 g.5741
ctggaggctctgtgagaggagggccagctcagccacagcaggaggactgacag | gggcctg c.-1
. . . . . . g.5801
ATGGAGGAGTTTGTGGGGCTGCGTGAAGGCTCCTCAGGGAACCCTGTGACTCTGCAGGAG c.60
M E E F V G L R E G S S G N P V T L Q E p.20
. . . . | 03 . . g.6826
CTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAG | GTGGCCTGGAGTGGCTGAAG c.120
L W G P C P R I R R G I R G | G L E W L K p.40
. . . . . . g.6886
CAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATG c.180
Q K L F R L G E D W Y F L M T L G V L M p.60
. . . . | 04 . g.7794
GCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAG | CGCACCAGTGG c.240
A L V S C A M D L A V E S V V R A | H Q W p.80
. . . . . . g.7854
CTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCT c.300
L Y R E I G D S H L L R Y L S W T V Y P p.100
. . . . . | 05 g.9155
GTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAG | GT c.360
V A L V S F S S G F S Q S I T P S S G G | p.120
. . . . . . g.9215
TCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGAT c.420
S G I P E V K T M L A G V V L E D Y L D p.140
. . . . . . g.9275
ATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACC c.480
I K N F G A K V V G L S C T L A C G S T p.160
. | 06 . . . . g.9633
CTCTTCCTCGGGAAAGTG | GGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTG c.540
L F L G K V | G P F V H L S V M M A A Y L p.180
. . . | 07 . . . g.9776
GGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAG | AACAAGAGCAAGCAAAACGAAATG c.600
G R V R T T T I G E P E | N K S K Q N E M p.200
. . . . . | 08 . g.10373
CTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCG | GCGTC c.660
L V A A A A V G V A T V F A A P F S G | V p.220
. . . . . . g.10433
CTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTC c.720
L F S I E V M S S H F S V W D Y W R G F p.240
. . . . . . g.10493
TTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAG c.780
F A A T C G A F M F R L L A V F N S E Q p.260
| 09 . . . . . . g.10925
G | AGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCT c.840
E | T I T S L Y K T S F R V D V P F D L P p.280
. . | 10 . . . . g.11097
GAGATCTTCTTTTTTGTGGCGCTGGG | GGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTC c.900
E I F F F V A L G | G L C G I L G S A Y L p.300
. . . . . . g.11157
TTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTG c.960
F C Q R I F F G F I R N N R F S S K L L p.320
| 11 . . . . . g.11816
GCCACCAG | CAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTAC c.1020
A T S | K P V Y S A L A T L V L A S I T Y p.340
. . . | 12 . . . g.12150
CCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGG | CTGTCCATGAAGCAGCATCTGGACTCG c.1080
P P S A G R F L A S R | L S M K Q H L D S p.360
. . . . . . g.12210
CTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAG c.1140
L F D N H S W A L M T Q N S S P P W P E p.380
. . . . . . g.12270
GAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGG c.1200
E L D P Q H L W W E W Y H P R F T I F G p.400
. . | 13. . . . g.12759
ACCCTTGCCTTCTTCCTGGTTATGAAG | TTCTGGATGCTGATTCTGGCCACCACCATCCCC c.1260
T L A F F L V M K | F W M L I L A T T I P p.420
. . . | 14. . . g.12981
ATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATG | GAGCTGCTATCGGGCGCCTCTTT c.1320
M P A G Y F M P I F V Y G | A A I G R L F p.440
. . . . . . g.13041
GGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCC c.1380
G E T L S F I F P E G I V A G G I T N P p.460
. . | 15 . . . g.13478
ATCATGCCAGGGGGGTATGCTCTGGCAG | GGGCTGCAGCCTTCTCAGGGGCTGTGACCCAC c.1440
I M P G G Y A L A G | A A A F S G A V T H p.480
. . . . . . g.13538
ACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCC c.1500
T I S T A L L A F E V T G Q I V H A L P p.500
. . . . . . g.13598
GTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTAT c.1560
V L M A V L A A N A I A Q S C Q P S F Y p.520
. . . . . . g.13658
GATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATC c.1620
D G T V I V K K L P Y L P R I L G R N I p.540
| 16 . . . . . . g.14945
GG | TTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAG c.1680
G | S H R V R V E H F M N H S I T T L A K p.560
. . . . . . g.15005
GACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCC c.1740
D M P L E E V V K V V T S T D V A K Y P p.580
. | 17 . . . . . g.16727
CTGGTGGAGAGCACAG | AGTCCCAGATCCTGGTGGGCATAGTGCGAAGGGCCCAGCTGGTG c.1800
L V E S T E | S Q I L V G I V R R A Q L V p.600
. . . . | 18 . . g.16938
CAGGCCCTGAAGGCTGAGCCTCCTTCCTGGGCTCCTGGACACCAG | CAGTGTCTCCAGGAC c.1860
Q A L K A E P P S W A P G H Q | Q C L Q D p.620
. . . . . . g.16998
ATCTTGGCTGCAGGCTGCCCCACAGAACCAGTGACCCTGAAGCTGTCCCCAGAGACTTCC c.1920
I L A A G C P T E P V T L K L S P E T S p.640
| 19 . . . . . g.17721
CTGCATGAG | GCACACAACCTCTTTGAGCTGTTGAACCTTCATTCCCTCTTTGTGACGTCG c.1980
L H E | A H N L F E L L N L H S L F V T S p.660
. . . | 20 . . . g.18141
CGGGGCAGAGCTGTGGGCTGCGTGTCCTGGGTGGAG | ATGAAGAAAGCAATTTCCAACCTG c.2040
R G R A V G C V S W V E | M K K A I S N L p.680
. . g.18165
ACAAATCCGCCAGCCCCAAAGTGA c.2064
T N P P A P K X p.687
. . . . . . g.18225
gccggcccagcaagatgaaacagggcaccccagctgacctggtactgaggttgggctgag c.*60
. . . . . . g.18285
accctgcttctcttcccccatcaccacctgcccctccctccagcccagctccattctttg c.*120
. . . . . . g.18345
gcataacaggcaactttaacctagcccagaagaggatggctcatcctgggtgggacgatg c.*180
. . . . . . g.18405
gctcctgccttgaaagacaaaaatcccaccttgggcagagctgagtgtgagaagatggaa c.*240
. . . . . . g.18465
aaccagtatctgccaggtgctcagtgactggccatcacattaatgaatgatgagattgga c.*300
. . . . . . g.18525
gtacactgtcaccaagggcaggcacagatgccttctggggttgtctggttcccagtgaga c.*360
. . . . . g.18575
ggctcctgagaaaaataaagctggttcccagagctggtgtccatccctca c.*410
(downstream sequence)
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