(used for variant description)
(last modified July 15, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_004070.3 in the CLCNKA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009359.1, covering CLCNKA transcript NM_004070.3.
(upstream sequence)
. . g.5020
gtgcactggagctgggagca c.-61
. . . . . . | 02 g.5629
aaggaggctctgtgagaggagggccagttcagccgcagcaggaggactgacag | gggcctg c.-1
. . . . . . g.5689
ATGGAGGAGTTGGTGGGGCTGCGTGAGGGCTTCTCAGGGGACCCTGTGACTCTGCAGGAG c.60
M E E L V G L R E G F S G D P V T L Q E p.20
. . . . | 03 . . g.6829
CTGTGGGGCCCCTGTCCCCACATCCGCCGAGCCATCCAAG | GTGGCCTGGAGTGGCTAAAG c.120
L W G P C P H I R R A I Q G | G L E W L K p.40
. . . . . . g.6889
CAGAAGGTGTTCCGCCTGGGAGAAGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATG c.180
Q K V F R L G E D W Y F L M T L G V L M p.60
. . . . | 04 . g.7783
GCCCTGGTCAGCTATGCCATGAACTTTGCCATCGGGTGTGTGGTCCGAG | CACACCAGTGG c.240
A L V S Y A M N F A I G C V V R A | H Q W p.80
. . . . . . g.7843
CTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTTTCCTGGACTGTGTACCCT 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.9119
GTGGCCCTCGTCTCTTTCTCCTCAGGCTTCTCCCAGAGCATCACGCCCTCCTCTGGAG | 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.9179
TCTGGAATCCCGGAGCTGAAGACCATGTTGGCGGGTGTGATCTTGGAGGACTACCTGGAT c.420
S G I P E L K T M L A G V I L E D Y L D p.140
. . . . . . g.9239
ATCAAGAACTTTGGGGCCAAGGTGGTGGGCCTCTCCTGCACCCTGGCCACCGGCAGCACC c.480
I K N F G A K V V G L S C T L A T G S T p.160
. | 06 . . . . g.9587
CTGTTCCTGGGCAAAGTG | GGCCCTTTCGTGCACCTGTCTGTAATGATCGCTGCCTACCTG c.540
L F L G K V | G P F V H L S V M I A A Y L p.180
. . . | 07 . . . g.9730
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.10324
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.10384
CTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCCGGGATTACTGGAGGGGCTTC c.720
L F S I E V M S S H F S V R D Y W R G F p.240
. . . . . . g.10444
TTTGCGGCCACCTGCGGGGCCTTCATATTCCGGCTCCTGGCAGTCTTCAACAGCGAGCAG c.780
F A A T C G A F I F R L L A V F N S E Q p.260
| 09 . . . . . . g.10889
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.11061
GAGATCTTCTTTTTTGTGGCGCTGGG | TGGCATCTGCGGCGTCCTGAGCTGTGCTTACCTC c.900
E I F F F V A L G | G I C G V L S C A Y L p.300
. . . . . . g.11121
TTCTGTCAGCGAACCTTCCTCAGCTTCATCAAGACCAATCGGTACAGCTCCAAACTGCTG c.960
F C Q R T F L S F I K T N R Y S S K L L p.320
| 11 . . . . . g.11822
GCTACTAG | CAAGCCTGTGTACTCCGCTCTGGCCACCTTGCTTCTCGCCTCCATCACCTAC c.1020
A T S | K P V Y S A L A T L L L A S I T Y p.340
. . . | 12 . . . g.12162
CCGCCTGGTGTGGGCCACTTCCTAGCTTCTCGG | CTGTCCATGAAGCAGCATCTGGACTCG c.1080
P P G V G H F L A S R | L S M K Q H L D S p.360
. . . . . . g.12222
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.12282
GAGCTCGACCCCCAGCACCTTTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGG 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.12773
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.12997
ATGCCTGCCGGGTACTTCATGCCCATCTTTATCCTTG | GAGCTGCCATCGGGCGCCTCTTG c.1320
M P A G Y F M P I F I L G | A A I G R L L p.440
. . . . . . g.13057
GGAGAGGCTCTTGCCGTCGCCTTCCCTGAGGGCATTGTGACTGGAGGGGTTACCAATCCC c.1380
G E A L A V A F P E G I V T G G V T N P p.460
. . | 15 . . . g.13502
ATCATGCCCGGGGGGTATGCTCTGGCAG | 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.13562
ACCATCTCCACGGCGCTGCTGGCCTTTGAGCTGACCGGCCAGATAGTGCATGCACTGCCC c.1500
T I S T A L L A F E L T G Q I V H A L P p.500
. . . . . . g.13622
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.13682
GATGGCACCATCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATC c.1620
D G T I I V K K L P Y L P R I L G R N I p.540
| 16 . . . . . . g.14777
GG | CTCCCACCATGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAG c.1680
G | S H H V R V E H F M N H S I T T L A K p.560
. . . . . . g.14837
GACACGCCGCTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGACCGAGTATCCC c.1740
D T P L E E V V K V V T S T D V T E Y P p.580
. | 17 . . . . . g.15256
CTGGTGGAGAGCACAG | AGTCCCAGATCCTGGTAGGCATCGTGCAGAGGGCCCAGCTGGTG c.1800
L V E S T E | S Q I L V G I V Q R A Q L V p.600
. . . . | 18 . . g.15467
CAGGCCCTCCAGGCTGAGCCTCCTTCCAGGGCTCCAGGACACCAG | CAGTGTCTCCAGGAC c.1860
Q A L Q A E P P S R A P G H Q | Q C L Q D p.620
. . . . . . g.15527
ATCTTGGCCAGGGGCTGCCCCACGGAACCAGTGACCCTGACGCTATTCTCAGAGACCACC c.1920
I L A R G C P T E P V T L T L F S E T T p.640
| 19 . . . . . g.16230
TTGCACCAG | GCACAAAACCTCTTTAAGCTGTTGAACCTTCAGTCCCTCTTCGTGACATCG c.1980
L H Q | A Q N L F K L L N L Q S L F V T S p.660
. . . | 20 . . . g.16644
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.16668
ACAAATCCGCCAGCTCCAAAGTGA c.2064
T N P P A P K X p.687
. . . . . . g.16728
gccggcccagcaagatgaaacagggcaccccagctgacctggtactgaggttgggctgag c.*60
. . . . . . g.16788
accctgcttctcttcccccatcaccacctgcccctccctccagcccagctccattctttg c.*120
. . . . . . g.16848
gcataacaggcaactctaacctagcccagaagaggatggctcatcctgggtgggacgatg c.*180
. . . . . . g.16908
gctcctgccttgaaagacaaaaatcccaccttgggcagagctgagtgtgagaagatggaa c.*240
. . . . . . g.16968
aaccagtatctgccaggtgctcagtgactggccatcacattaatgaatgacgagattgga c.*300
. . . . . . g.17028
gtacactgtcaccaagggcaggcaaagatgccctctggggttgtctggttcccagtgaga c.*360
. . . g.17060
ggctcctgagaaaaataaagctggttcccaga c.*392
(downstream sequence)
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