(used for variant description)
(last modified January 29, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000396.3 in the CTSK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011848.1, covering CTSK transcript NM_000396.3.
(upstream sequence)
. . . . g.4944
acacatgctgcatacacacagaaacactgcaaatccactgcctccttcc c.-181
. . . . . . g.5004
ctcctccctacccttccttctctcagcatttctatccccgcctcctcctcttacccaaat c.-121
. . . . . . g.5064
tttccagccgatcactggagctgacttccgcaatcccgatggaataaatctagcacccct c.-61
. . . . . . | 02 g.6531
gatggtgtgcccacactttgctgccgaaacgaagccagacaacagatttccatcagcag | g c.-1
. . . . . . g.6591
ATGTGGGGGCTCAAGGTTCTGCTGCTACCTGTGGTGAGCTTTGCTCTGTACCCTGAGGAG c.60
M W G L K V L L L P V V S F A L Y P E E p.20
. . . . . . g.6651
ATACTGGACACCCACTGGGAGCTATGGAAGAAGACCCACAGGAAGCAATATAACAACAAG c.120
I L D T H W E L W K K T H R K Q Y N N K p.40
| 03 . . . . . . g.7172
| GTGGATGAAATCTCTCGGCGTTTAATTTGGGAAAAAAACCTGAAGTATATTTCCATCCAT c.180
| V D E I S R R L I W E K N L K Y I S I H p.60
. . . . . . g.7232
AACCTTGAGGCTTCTCTTGGTGTCCATACATATGAACTGGCTATGAACCACCTGGGGGAC c.240
N L E A S L G V H T Y E L A M N H L G D p.80
| 04 . . . . . . g.7377
ATG | ACCAGTGAAGAGGTGGTTCAGAAGATGACTGGACTCAAAGTACCCCTGTCTCATTCC c.300
M | T S E E V V Q K M T G L K V P L S H S p.100
. . . . . . g.7437
CGCAGTAATGACACCCTTTATATCCCAGAATGGGAAGGTAGAGCCCCAGACTCTGTCGAC c.360
R S N D T L Y I P E W E G R A P D S V D p.120
. . . | 05 . . g.9118
TATCGAAAGAAAGGATATGTTACTCCTGTCAAAAATCAG | GGTCAGTGTGGTTCCTGTTGG c.420
Y R K K G Y V T P V K N Q | G Q C G S C W p.140
. . . . . . g.9178
GCTTTTAGCTCTGTGGGTGCCCTGGAGGGCCAACTCAAGAAGAAAACTGGCAAACTCTTA c.480
A F S S V G A L E G Q L K K K T G K L L p.160
. . . . . . g.9238
AATCTGAGTCCCCAGAACCTAGTGGATTGTGTGTCTGAGAATGATGGCTGTGGAGGGGGC c.540
N L S P Q N L V D C V S E N D G C G G G p.180
. . . . . . g.9298
TACATGACCAATGCCTTCCAATATGTGCAGAAGAACCGGGGTATTGACTCTGAAGATGCC c.600
Y M T N A F Q Y V Q K N R G I D S E D A p.200
. | 06 . . . . g.13669
TACCCATATGTGGGACAG | GAAGAGAGTTGTATGTACAACCCAACAGGCAAGGCAGCTAAA c.660
Y P Y V G Q | E E S C M Y N P T G K A A K p.220
. . . . . . g.13729
TGCAGAGGGTACAGAGAGATCCCCGAGGGGAATGAGAAAGCCCTGAAGAGGGCAGTGGCC c.720
C R G Y R E I P E G N E K A L K R A V A p.240
. . . . . . g.13789
CGAGTGGGACCTGTCTCTGTGGCCATTGATGCAAGCCTGACCTCCTTCCAGTTTTACAGC c.780
R V G P V S V A I D A S L T S F Q F Y S p.260
| 07 . . . . . . g.14119
AAAG | GTGTGTATTATGATGAAAGCTGCAATAGCGATAATCTGAACCATGCGGTTTTGGCA c.840
K G | V Y Y D E S C N S D N L N H A V L A p.280
. . . . . | 08 . g.16448
GTGGGATATGGAATCCAGAAGGGAAACAAGCACTGGATAATTAAAAACAG | CTGGGGAGAA c.900
V G Y G I Q K G N K H W I I K N S | W G E p.300
. . . . . . g.16508
AACTGGGGAAACAAAGGATATATCCTCATGGCTCGAAATAAGAACAACGCCTGTGGCATT c.960
N W G N K G Y I L M A R N K N N A C G I p.320
. . . g.16538
GCCAACCTGGCCAGCTTCCCCAAGATGTGA c.990
A N L A S F P K M X p.329
. . . . . . g.16598
ctccagccagccaaatccatcctgctcttccatttcttccacgatggtgcagtgtaacga c.*60
. . . . . . g.16658
tgcactttggaagggagttggtgtgctatttttgaagcagatgtggtgatactgagattg c.*120
. . . . . . g.16718
tctgttcagtttccccatttgtttgtgcttcaaatgatccttcctactttgcttctctcc c.*180
. . . . . . g.16778
acccatgacctttttcactgtggccatcaggactttccctgacagctgtgtactcttagg c.*240
. . . . . . g.16838
ctaagagatgtgactacagcctgcccctgactgtgttgtcccagggctgatgctgtacag c.*300
. . . . . . g.16898
gtacaggctggagattttcacataggttagattctcattcacgggactagttagctttaa c.*360
. . . . . . g.16958
gcaccctagaggactagggtaatctgacttctcacttcctaagttcccttctatatcctc c.*420
. . . . . . g.17018
aaggtagaaatgtctatgttttctactccaattcataaatctattcataagtctttggta c.*480
. . . . . . g.17078
caagtttacatgataaaaagaaatgtgatttgtcttcccttctttgcacttttgaaataa c.*540
. . . . . g.17129
agtatttatctcctgtctacagtttaataaatagcatctagtacacattca c.*591
(downstream sequence)
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