(used for variant description)
(last modified September 27, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001031681.2 in the CTNS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012489.2, covering CTNS transcript NM_001031681.2.
(upstream sequence)
. . . . . g.5050
gatttccgcccaatggagggcggtctgagcttcgctcacgaaaggagccg c.-421
. . . . . . g.5110
ggaggcgctggcggctccaagagtctctgtgtccctggcagcggacctcatcttccctca c.-361
. . . . . . g.5170
cgccggagccccgatctctgcgccccggcccgacccagctgcgctctgtccgtctaagac c.-301
. . . . . . g.5230
gcgcggaaactacaactcccagagctcatctcgccgagatccggccccacgagtcaggtg c.-241
. . | 02 . . . . g.5688
gcggaggtcag | attgctttggagacgctgagagaacctttgcgagagcgccggttgacgt c.-181
. . . . . . g.5748
gcggagtgcggggctccgggggactgagcagcacgagaccccatcctcccctccgggttt c.-121
. . . . . . g.5808
tcacactgggcgaagggaggactcctgagctctgcctcttccagtaacattgaggattac c.-61
. . . . . | 03 . g.8739
tgtgttttgtgagagctcgctaggcgccctaagcaacagag | ttctgagaaatcgagaaac c.-1
. . . . . . g.8799
ATGATAAGGAATTGGCTGACTATTTTTATCCTTTTTCCCCTGAAGCTCGTAGAGAAATGT c.60
M I R N W L T I F I L F P L K L V E K C p.20
| 04 . . . . . . g.16035
G | AGTCAAGCGTCAGCCTCACTGTTCCTCCTGTCGTAAAGCTGGAGAACGGCAGCTCGACC c.120
E | S S V S L T V P P V V K L E N G S S T p.40
. . | 05 . . . . g.17419
AACGTCAGCCTCACCCTGCG | GCCACCATTAAATGCAACCCTGGTGATCACTTTTGAAATC c.180
N V S L T L R | P P L N A T L V I T F E I p.60
. . . . | 06 . . g.23545
ACATTTCGTTCCAAAAATATTACTATCCTTGAGCTCCCCGATGAA | GTTGTGGTGCCTCCT c.240
T F R S K N I T I L E L P D E | V V V P P p.80
. . . . . . g.23605
GGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTAT c.300
G V T N S S F Q V T S Q N V G Q L T V Y p.100
. . | 07 . . . g.23784
CTACATGGAAATCACTCCAATCAGACCGG | CCCGAGGATACGCTTTCTTGTGATCCGCAGC c.360
L H G N H S N Q T G | P R I R F L V I R S p.120
. . . . . . g.23844
AGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATC c.420
S A I S I I N Q V I G W I Y F V A W S I p.140
. . . . | 08 . . g.25038
TCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAG | TGTCATTGGTCTGAGCTTC c.480
S F Y P Q V I M N W R R K S | V I G L S F p.160
. . . . . . g.25098
GACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTC c.540
D F V A L N L T G F V A Y S V F N I G L p.180
. . | 09 . . . . g.25247
CTCTGGGTGCCCTACATCAAG | GAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCC c.600
L W V P Y I K | E Q F L L K Y P N G V N P p.200
. . . . . . g.25307
GTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATC c.660
V N S N D V F F S L H A V V L T L I I I p.220
. . | 10 . . . . g.26576
GTGCAGTGCTGCCTGTATGAG | CGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTC c.720
V Q C C L Y E | R G G Q R V S W P A I G F p.240
. . . . . . g.26636
CTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACC c.780
L V L A W L F A F V T M I V A A V G V T p.260
. . . . . . g.26696
ACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAG c.840
T W L Q F L F C F S Y I K L A V T L V K p.280
. | 11 . . . . . g.28438
TATTTTCCACAG | GCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGC c.900
Y F P Q | A Y M N F Y Y K S T E G W S I G p.300
. . . . . . g.28498
AACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCC c.960
N V L L D F T G G S F S L L Q M F L Q S p.320
. | 12 . . . . . g.28818
TACAACAACG | ACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTC c.1020
Y N N D | Q W T L I F G D P T K F G L G V p.340
. . . . . . g.28878
TTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGA c.1080
F S I V F D V V F F I Q H F C L Y R K R p.360
| 13 . . . . . . g.29204
CCGGG | GCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCA c.1140
P G | L Q A A R T G S G S R L R Q D W A P p.380
. . . . . . g.29264
AGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGC c.1200
S L Q P K A L P Q T T S V S A S S L K G p.400
g.29267
TGA c.1203
X p.400
. . . . . . g.29327
ccttgcagccgggtgagccaagggcactttgctgccaccgctgcattcccagagatcaag c.*60
. . . . . . g.29387
cagcccggtgccgtggccagtgaactcagaggtgctggtggacgggctaggactttgggg c.*120
. . . . . . g.29447
ttaggccatggggctctttctctgaaggccactttcctgacgtactctctgtacataact c.*180
. . . . . . g.29507
cagcgtccgtgactgcagtaacagccagccctacccagagtatttctgagccatgagggg c.*240
. . . . . . g.29567
cccaccagattggttctgaattggattcatgcccagcgcattagcatagtaactcctttc c.*300
. . . . . . g.29627
agattttttggagggacgtttggaagtggcttactctcttctgccctctctcctacctcc c.*360
. . . . . . g.29687
accttctcagattagccccatctgagcacatccagctgctccttacccagcatctggagt c.*420
. . . . . . g.29747
acaggacatagctctctcctgctaccagtctgtgccttagaggtctgttaggcctgccaa c.*480
. . . . . . g.29807
acggcgaccagctcccctggagcgagggcaggccccttccctctctttccccagacacct c.*540
. . . . . . g.29867
acttgagactcaccaatttctggcctgttcaggagcctcagataagtatttgtacttgag c.*600
. . . . . . g.29927
accacctcacacaatctgtatgggcccaaccctgatctcaaacctccttccctctgccca c.*660
. . . . . . g.29987
aagctgtccttcctatggcaggaggggtgggggtcccaggacgtgcctcatacatgactt c.*720
. . . . . . g.30047
gagcttgtcagtccactgagtttccttctacgagatcaacgcgaggggcctgtatcttga c.*780
. . . . . . g.30107
attaaaacctactcgcttcctttctgcactctgtgtgctcgatacagaaggcaggtgtgc c.*840
. . . . . . g.30167
tggccttcagagccaggtgccctgctcccctcgtgtaaggaagcgcataaggttgtgaag c.*900
. . . . . . g.30227
gtcactgacccgagagcgctgcgtgctgaccccacacttcactggggagccctcttgggt c.*960
. . . . . . g.30287
agcgcgagacgcctacccgcccagggccaggtcagtctcccaggctccgtgtcttcacgg c.*1020
. . . . . . g.30347
ttaccagggcacgccactcaatctggatgtgagccggggtggatgaggttctgaagggca c.*1080
. . . . . . g.30407
caccagcactgggagcgggggcagtgggggtcttattctccagacgcttcctctatctag c.*1140
. . . . . . g.30467
ttgtaacaaacgtcaaagaatgtcaggtcttgtttctgcagagcagactttggcctgacg c.*1200
. . . . . . g.30527
gggtccacagacctgtttcacttgcaacacccagtaaatgtgttactgggtgccctactt c.*1260
. . . . . . g.30587
taaaaatcagagatttcaaatgattgacttttccggctgagtgcggtggctcacgcctgt c.*1320
. . . . . . g.30647
aatcccagcactttgggaggccaaggcagatggatcacctgacatcaggagttcgagacc c.*1380
. . . . . . g.30707
agcctagccaacattgcaaaaccccatctctactaaagatacaaaaattagctgggcatg c.*1440
. . . . . . g.30767
gtggcgggcacctgtaatcccagctacttggttggctgaggcaggagaattacttgaacc c.*1500
. . . . . . g.30827
caggaggcggaggttgcagtgagcgaagatcacgccattgcactccagcctgggcaacaa c.*1560
. . . . . . g.30887
gaacgaaactccatctcaaaaaaaaaaaaaaattattgacttttctttaaaatctgattt c.*1620
. . . . . . g.30947
ggcagtgctaggtaggtccaggagtgctaacaccttcccagaggtggtacgcaggtagtc c.*1680
. . . . . . g.31007
aggtgctctctgactcacccccatctggccagatcacggcccccagcaacacgtggggtt c.*1740
. . . . . . g.31067
gtgtccctcgctgggatacacggagtgcccttataggcagggagtcttataggcaggggt c.*1800
. . . . . . g.31127
ctctcccaggcacctctgggtgtccctacggcccctcccaggtgggagctgaggctaggt c.*1860
. . . . . . g.31187
tgcaaaaaggaggttgggagcaagtaggggcttcacagtaacacccaagaaagcacacgc c.*1920
. . . . . . g.31247
accccagggtcccaccccagtgctcccagacactcccacagatgtggttctggtcaggcg c.*1980
. . . . . . g.31307
cagtgcagctgctgcggctccaccagccccgggctttcaggcaggtgggcctgggagtag c.*2040
. . . . . . g.31367
ttgagctttgtcccagaacagtgggggatggggccatcattaaaaccacagctctggccc c.*2100
. . . . . . g.31427
caatatcccaccgccacccccaccccgatatcccagcccatgcctcagcaaagccccctg c.*2160
. . . . . . g.31487
tgaattccagcatttttattgagcgcaccacatcggggaggggcggcagtggtttccacg c.*2220
. . . . . . g.31547
gtaaccaaagtaaggcttgtgcacttgctgagcttccagatgcgaattagtaaaagctaa c.*2280
. . . . . . g.31607
attcaaaagtagaatgggcatctccaaagagtacgataaaaacattttgtatcaaacttg c.*2340
. . g.31636
tgattaaaaaaatacaaaagttaaaccca c.*2369
(downstream sequence)
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