(used for variant description)
(last modified April 3, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_003793.3 in the CTSF gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032973.1, covering CTSF transcript NM_003793.3.
(upstream sequence)
. . . g.5030
ggaggactcaggccccgctggccgcgggct c.-61
. . . . . . g.5090
cggtacccggtgggtcggtggagcgtctgttgggtccgggccgccggcttcgccctcgcc c.-1
. . . . . . g.5150
ATGGCGCCCTGGCTGCAGCTCCTGTCGCTGCTGGGGCTGCTCCCGGGCGCAGTGGCCGCC c.60
M A P W L Q L L S L L G L L P G A V A A p.20
. . . . . . g.5210
CCCGCCCAGCCCCGAGCCGCCAGCTTTCAGGCCTGGGGGCCGCCGTCCCCGGAGCTGCTG c.120
P A Q P R A A S F Q A W G P P S P E L L p.40
. . . . . . g.5270
GCGCCCACCCGCTTCGCGCTGGAGATGTTCAACCGCGGCCGGGCTGCGGGGACGCGGGCC c.180
A P T R F A L E M F N R G R A A G T R A p.60
. . . | 02 . . . g.5521
GTGCTGGGCCTTGTGCGCGGCCGCGTCCGCCGG | GCGGGTCAGGGGTCGCTGTACTCCCTG c.240
V L G L V R G R V R R | A G Q G S L Y S L p.80
. . . . . . g.5581
GAGGCCACCCTGGAGGAGCCACCCTGCAACGACCCCATGGTGTGCCGGCTCCCCGTGTCC c.300
E A T L E E P P C N D P M V C R L P V S p.100
. | 03 . . . . . g.5962
AAGAAAACCCTG | CTCTGCAGCTTCCAAGTCCTGGATGAGCTCGGAAGACACGTGCTGCTG c.360
K K T L | L C S F Q V L D E L G R H V L L p.120
. . . . . . g.6022
CGGAAGGACTGTGGCCCAGTGGACACCAAGGTTCCAGGTGCTGGGGAGCCCAAGTCAGCC c.420
R K D C G P V D T K V P G A G E P K S A p.140
. . . . . . g.6082
TTCACTCAGGGCTCAGCCATGATTTCTTCTCTGTCCCAAAACCATCCAGACAACAGAAAC c.480
F T Q G S A M I S S L S Q N H P D N R N p.160
. . . . . | 04 . g.6264
GAGACTTTCAGCTCAGTCATTTCCCTGTTGAATGAGGATCCCCTGTCCCAG | GACTTGCCT c.540
E T F S S V I S L L N E D P L S Q | D L P p.180
. . . . . . g.6324
GTGAAGATGGCTTCAATCTTCAAGAACTTTGTCATTACCTATAACCGGACATATGAGTCA c.600
V K M A S I F K N F V I T Y N R T Y E S p.200
| 05. . . . . . g.7225
AAGGAAG | AAGCCCGGTGGCGCCTGTCCGTCTTTGTCAATAACATGGTGCGAGCACAGAAG c.660
K E E | A R W R L S V F V N N M V R A Q K p.220
. . . . . . g.7285
ATCCAGGCCCTGGACCGTGGCACAGCTCAGTATGGAGTCACCAAGTTCAGTGATCTCACA c.720
I Q A L D R G T A Q Y G V T K F S D L T p.240
| 06 . . . . . . g.7468
G | AGGAGGAGTTCCGCACTATCTACCTGAATACTCTCCTGAGGAAAGAGCCTGGCAACAAG c.780
E | E E F R T I Y L N T L L R K E P G N K p.260
. . . . . . g.7528
ATGAAGCAAGCCAAGTCTGTGGGTGACCTCGCCCCACCTGAATGGGACTGGAGGAGTAAG c.840
M K Q A K S V G D L A P P E W D W R S K p.280
. . | 07. . . . g.7682
GGGGCTGTCACAAAAGTCAAAGACCAG | GGCATGTGTGGCTCCTGCTGGGCCTTCTCAGTC c.900
G A V T K V K D Q | G M C G S C W A F S V p.300
. . . . . . g.7742
ACAGGCAATGTGGAGGGCCAGTGGTTTCTCAACCAGGGGACCCTGCTCTCCCTCTCTGAA c.960
T G N V E G Q W F L N Q G T L L S L S E p.320
| 08 . . . . . . g.7881
CAGG | AGCTCTTGGACTGTGACAAGATGGACAAGGCCTGCATGGGCGGCTTGCCCTCCAAT c.1020
Q E | L L D C D K M D K A C M G G L P S N p.340
. . | 09 . . . . g.8605
GCCTACTCGGCCATAAAGAATTTGG | GAGGGCTGGAGACAGAGGATGACTACAGCTACCAG c.1080
A Y S A I K N L G | G L E T E D D Y S Y Q p.360
. . . . . . g.8665
GGTCACATGCAGTCCTGCAACTTCTCAGCAGAGAAGGCCAAGGTCTACATCAATGACTCC c.1140
G H M Q S C N F S A E K A K V Y I N D S p.380
. . | 10 . . . . g.8805
GTGGAGCTGAGCCAGAACGAGCAGA | AGCTGGCAGCCTGGCTGGCCAAGAGAGGCCCAATC c.1200
V E L S Q N E Q K | L A A W L A K R G P I p.400
. . . | 11 . . . g.8958
TCCGTGGCCATCAATGCCTTTGGCATGCAG | TTTTACCGCCACGGGATCTCCCGCCCTCTC c.1260
S V A I N A F G M Q | F Y R H G I S R P L p.420
. . . . . . g.9018
CGGCCCCTCTGCAGCCCTTGGCTCATTGACCATGCGGTGTTGCTTGTGGGCTACGGCAAC c.1320
R P L C S P W L I D H A V L L V G Y G N p.440
| 12 . . . . . . g.9489
C | GCTCTGACGTTCCCTTTTGGGCCATCAAGAACAGCTGGGGCACTGACTGGGGTGAGAAG c.1380
R | S D V P F W A I K N S W G T D W G E K p.460
| 13 . . . . . . g.9629
| GGTTACTACTACTTGCATCGTGGGTCCGGGGCCTGTGGCGTGAACACCATGGCCAGCTCG c.1440
| G Y Y Y L H R G S G A C G V N T M A S S p.480
. g.9644
GCGGTGGTGGACTGA c.1455
A V V D X p.484
. . . . . . g.9704
agaggggcccccagctcgggacctggtgctgatcagagtggctgctgccccagcctgaca c.*60
. . . . . . g.9764
tgtgtccaggcccctccccgggaggtacagctggcagagggaaaggcactgggtacctca c.*120
. . . . . . g.9824
gggtgagcagagggcactgggctggggcacagcccctgcttccctgcaccccattcccac c.*180
. . . . . . g.9884
cctgaagttctgcacctgcacctttgttgaattgtggtagcttaggaggatgtcggggtg c.*240
. . . . . . g.9944
aagggtggtatcttggcagttgaagctggggcaagaactctgggcttgggtaatgagcag c.*300
. . . . . . g.10004
gaagaaaattttctgatcttaagcccagctctgttctgcccccgctttcctctgtttgat c.*360
. . . . . . g.10064
actataaattttctggttcccttggatttagggatagtgtccctctccatgtccaggaaa c.*420
. . . . g.10113
cttgtaaccacccttttctaacagcaataaagaggtgtccttgtcccga c.*469
(downstream sequence)
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