(used for variant description)
(last modified July 12, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_018941.3 in the CLN8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering CLN8 transcript NM_018941.3.
(upstream sequence)
g.5005
ctctc c.-301
. . . . . . g.5065
gtagcgacgcccccaggggggcagaacgcgtgcgcacgcgcgtgcgaacgcgcgtgcgcg c.-241
. . . . . . g.5125
ggcggtgtttgaggccggccagtcgtgactgggcggcaatgaggtcagtgactgccggga c.-181
. . . . . . | 02 g.12231
gtcctgcaggggcggggcggcgccaagcgcagggagcccggctgagtggcagcccag | att c.-121
. . . . . . g.12291
gaagatggatacgtgacaatcccagggaccgctgcactgacttcatttccttagacaaga c.-61
. . . . . . g.12351
cacagtgtagggcccggcccgtgttggccccaggactcctttggaatatagctgtggaca c.-1
. . . . . . g.12411
ATGAATCCTGCGAGCGATGGGGGCACATCAGAGAGCATTTTTGACCTGGACTATGCATCC c.60
M N P A S D G G T S E S I F D L D Y A S p.20
. . . . . . g.12471
TGGGGGATCCGCTCCACGCTGATGGTCGCTGGCTTTGTCTTCTACTTGGGCGTCTTTGTG c.120
W G I R S T L M V A G F V F Y L G V F V p.40
. . . . . . g.12531
GTCTGCCACCAGCTGTCCTCTTCCCTGAATGCCACTTACCGTTCTTTGGTGGCCAGAGAG c.180
V C H Q L S S S L N A T Y R S L V A R E p.60
. . . . . . g.12591
AAGGTCTTCTGGGACCTGGCGGCCACGCGTGCAGTCTTTGGTGTTCAGAGCACAGCCGCA c.240
K V F W D L A A T R A V F G V Q S T A A p.80
. . . . . . g.12651
GGCCTGTGGGCTCTGCTGGGGGACCCTGTGCTGCATGCCGACAAGGCGCGTGGCCAGCAG c.300
G L W A L L G D P V L H A D K A R G Q Q p.100
. . . . . . g.12711
AACTGGTGCTGGTTTCACATCACGACAGCAACGGGATTCTTTTGCTTTGAAAATGTTGCA c.360
N W C W F H I T T A T G F F C F E N V A p.120
. . . . . . g.12771
GTCCACCTGTCCAACTTGATCTTCCGGACATTTGACTTGTTTCTGGTTATCCACCATCTC c.420
V H L S N L I F R T F D L F L V I H H L p.140
. . . . . . g.12831
TTTGCCTTTCTTGGGTTTCTTGGCTGCTTGGTCAATCTCCAAGCTGGCCACTATCTAGCT c.480
F A F L G F L G C L V N L Q A G H Y L A p.160
. . . . . . g.12891
ATGACCACGTTGCTCCTGGAGATGAGCACGCCCTTTACCTGCGTTTCCTGGATGCTCTTA c.540
M T T L L L E M S T P F T C V S W M L L p.180
| 03 . . . . . . g.21603
AAG | GCGGGCTGGTCCGAGTCTCTGTTTTGGAAGCTCAACCAGTGGCTGATGATTCACATG c.600
K | A G W S E S L F W K L N Q W L M I H M p.200
. . . . . . g.21663
TTTCACTGCCGCATGGTTCTAACCTACCACATGTGGTGGGTGTGTTTCTGGCACTGGGAC c.660
F H C R M V L T Y H M W W V C F W H W D p.220
. . . . . . g.21723
GGCCTGGTCAGCAGCCTGTATCTGCCTCATTTGACACTGTTCCTTGTCGGACTGGCTCTG c.720
G L V S S L Y L P H L T L F L V G L A L p.240
. . . . . . g.21783
CTTACGCTAATCATTAATCCATATTGGACCCATAAGAAGACTCAGCAGCTTCTCAATCCG c.780
L T L I I N P Y W T H K K T Q Q L L N P p.260
. . . . . . g.21843
GTGGACTGGAACTTCGCACAGCCAGAAGCCAAGAGCAGGCCAGAAGGCAACGGGCAGCTG c.840
V D W N F A Q P E A K S R P E G N G Q L p.280
. . g.21864
CTGCGGAAGAAGAGGCCATAG c.861
L R K K R P X p.286
. . . . . . g.21924
ctgctccagccggggctccggggcggcagcagagctggcacaccgattctgggaagcccc c.*60
. . . . . . g.21984
gcgaatgatggcttttgaattaatgaggcagtgaatgttttgtgtttacttctaagggaa c.*120
. . . . . . g.22044
atactaactttctttcgcattagtattaattttgaagtagctacaaagtatttttaagaa c.*180
. . . . . . g.22104
attataattttatgactgtctggcaggctctgtcagtttagccgcgccggaccgtgtcaa c.*240
. . . . . . g.22164
gcatctaggagaggagtccatggtgtccaggcatcggggcgtcacacctgttgaggagtg c.*300
. . . . . . g.22224
gggtggctttgaatgctggaaatggcttcatagtgaagtgcctcccacagggcgggtggg c.*360
. . . . . . g.22284
tcagcgttgactctttccagctgcacactcatatgccgtgtgtcttattcagaagtcaca c.*420
. . . . . . g.22344
ttcttttcagttggagagaattgggctaagatagaaaataacatgatttgttccttatta c.*480
. . . . . . g.22404
aagcttcccagcgtatgaaattctaagctgggtggggtggctcacacccgacgtaatccc c.*540
. . . . . . g.22464
agcacgttgggaggccgaggcaggtggatcacttgaggccaggagttcgagaccagcctg c.*600
. . . . . . g.22524
gtcaagatggtgaaaccccatctctactaaaattacaaaaattagccgggtgtcgtggca c.*660
. . . . . . g.22584
cacacctgtaatcccagctatttgggaggccaaggcaggagaattgcctgaacccgggag c.*720
. . . . . . g.22644
gcggaggttgcagtgagctgagatcgcaccactgcactccagcactccagcctgggtgac c.*780
. . . . . . g.22704
agagcaagactctctctcaaaaaaaaaaaaaaaaaaaaattctagaccgaagtgtacggc c.*840
. . . . . . g.22764
agtgccatctggtggcaagtggtacaaagacaacgctgaggggtagtgactcctgtagca c.*900
. . . . . . g.22824
gcagagacgccttggagtttaacccccaccaaccagagcgtgggctggtaaagatgaaat c.*960
. . . . . . g.22884
cttgcaagttttttttttttttaaatcatggtacctgttttaaaatgagaagttattatt c.*1020
. . . . . . g.22944
catactgtgttgctcatttgacaaaataaggtaaggatttcataatcaggttgtctgggt c.*1080
. . . . . . g.23004
ttcagagctgtttttaattgactgagttacctacaggcacccaatctagaccctaattct c.*1140
. . . . . . g.23064
gtggttggtgttcctctgtagatttcaagacaagtagtgatgtcattttctccctgagct c.*1200
. . . . . . g.23124
gtagggtggacctggacccctcagagatgctcgactgcagggtcctggggtccctagagt c.*1260
. . . . . . g.23184
ggtcctgcagcagcccctggcaatgagctgcctgatgatgagtcccaaggtacattgttc c.*1320
. . . . . . g.23244
tactgttttatacccaggtagaagttacacagcaatttagcaatgttgttaacagacata c.*1380
. . . . . . g.23304
cagaattgtgtgtgtgtgtgtgtgtgtgtgtgtgagtgttttgatataaacgtgcaatta c.*1440
. . . . . . g.23364
aaattcaaagtttattttttatcacaagcacctttgaaatgtacgtggaaaacgtcggct c.*1500
. . . . . . g.23424
gctcgtgagaatcatgtgtgacttacgttccttatgttttatggaactctcggaacagtg c.*1560
. . . . . . g.23484
ttttgtttttgtttagtttttgttttcgtttttttgagacggagcctggctttggctccc c.*1620
. . . . . . g.23544
aggctggagtccagtggtgtgatctcggctcactgcaacctccacctcccgggttccagg c.*1680
. . . . . . g.23604
gattctcctgcctcaccctttcaagtagctgggattacaggtacctctaccatgcctggc c.*1740
. . . . . . g.23664
tgattttttgtatttttagtagagacagggtttcaccatgttggccaggctggtctctga c.*1800
. . . . . . g.23724
ctcctgactaaaagtgatctgcccacctcggcctcccaaagttctgggattacgggcgtg c.*1860
. . . . . . g.23784
agccacttcacccggcccggagcggtgtattttgattgctggtgctttaactatattgac c.*1920
. . . . . . g.23844
caaggtgtatagtaacctatttatcacattttacgaagcaattttaatcttaaacacatc c.*1980
. . . . . . g.23904
cagcaaatggtgtccctgctgaaacttttaactggaaacctcacacctggcaggcagcac c.*2040
. . . . . . g.23964
tctctgcagccgtgcccttgtggagtcagcaggagctggtgtttttcagccagacagagg c.*2100
. . . . . . g.24024
cataataaagtgactgatgtttacagaacccaaatgatgtcttcctctctctcaaaataa c.*2160
. . . . . . g.24084
actaacctattcatattgctgtgaatgctttatcttggagatagaaaatataatgataaa c.*2220
. . . . . . g.24144
ttcatcatgtgttcagaattcgatttggagttggaagtggacagcctaatttttatctca c.*2280
. . . . . . g.24204
cctccactaggactttgaccttcccaggggtccacactttacctcctgtatcttcatacg c.*2340
. . . . . . g.24264
cgtgtgtggatgcatagagatggaggtgctgtagagaagcacaggctcacccgctccgtc c.*2400
. . . . . . g.24324
cagtgtcacccacacattggtccggggacccctcagtgcagagcctgaagttgggggttt c.*2460
. . . . . . g.24384
aggggtggaaaaggcttcgtgaaatgttaatgatgcgtacaccttccagatggcacagca c.*2520
. . . . . . g.24444
ctttcccatggtcctcactggcctcagtctccctgaccggcagtgtgaggggatgtagct c.*2580
. . . . . . g.24504
atagtggagcatggtacaagcgacattcatgagctctgacttcttggtgccaggttggtg c.*2640
. . . . . . g.24564
tgagcctgggcccggcccactcagcggcccacattggccagcattcagctgcacgtgtgt c.*2700
. . . . . . g.24624
gctgcgtgcttcacatcctctattgagagttacagcaagtgttaaacgaggtgagttcac c.*2760
. . . . . . g.24684
ataacaggaattctggaactgcttgaaaactaggacgattgggcaatatcggccttaact c.*2820
. . . . . . g.24744
ccacctgatggcaggtgacccggatagaaaatggccctgcgtttagccaggatgtggctc c.*2880
. . . . . . g.24804
tccagcttggcttcagtgtgatcacttgtcagtgcgctttctctttcgatagtgaaatcc c.*2940
. . . . . . g.24864
ttctctatacctatgttttgttttgtttcttaagttgggaaacagaatgggccagggagg c.*3000
. . . . . . g.24924
ttgagtgactgaagaccaagggttggtgcagcctcctcgccgcgctgcgggggctgggcc c.*3060
. . . . . . g.24984
gcacaggcttctgcccttctcggtgtccaggctccttgggtgatgctggagttgtcatgg c.*3120
. . . . . . g.25044
ccgcagttcagtgtgagattttttaccaggtattgcgcttaagggacatgattttccatt c.*3180
. . . . . . g.25104
ttcttcgcccggacaacttgaatgaaatgggcactgttgattccacttctgtcgaggagc c.*3240
. . . . . . g.25164
ttcggggctcagagaggtgatgacgtgcccaaggtgacgcaactcgtgaacagccgtgcc c.*3300
. . . . . . g.25224
tgccttgggcgcagcctccggcgccagagctgggctcttcaacacggcatttagcgcaga c.*3360
. . . . . . g.25284
aagtcgtggttcaggcagtatgggccgctgtgacaaaacacctaagactgggtagtttat c.*3420
. . . . . . g.25344
aaagaacagacattcaggccaggcacggtgactcacgcctgtaatcccagcactttggga c.*3480
. . . . . . g.25404
ggccgaggcgggtggatcatttgaggtcaggagtttgaaaccagcctggccaacatggtg c.*3540
. . . . . . g.25464
aaaccccatctctactaaaaaaacaaaactagctgggggtggtggtgcatgcctgtggtc c.*3600
. . . . . . g.25524
ccagctacttgggaggctaaggtagaagaattgcttgaacctgggaggcagagattgcag c.*3660
. . . . . . g.25584
tgagccgagatcacgccattgcactccagcctgggtgacacagtgagactccatctcaaa c.*3720
. . . . . . g.25644
aaaaaaaaaagaacggacatcatttctcacagttctggaggctggaagtccaagataaag c.*3780
. . . . . . g.25704
gtgtgggctgattagtttctgctgggaacactgcatcctcacgtggtggaggggatggaa c.*3840
. . . . . . g.25764
ggtcaacaggcctcagctagttctccgctgcctttttatgaggcattaagccatttgcaa c.*3900
. . . . . . g.25824
gagtagggggccccacctcttaataccaccgcaatgacaattacaatgtcatgtgaattc c.*3960
. . . . . . g.25884
tggaggggacacggtcacactgcagcatcagcacccggtgaatgtggttctcttcccatg c.*4020
. . . . . . g.25944
tccgaattttgtgagctccacacgggcagggttgcatctgttttattctctgattgattc c.*4080
. . . . . . g.26004
taagccccatgtccctggcacaggatggctgcttggcagtagggagtggatgaaccagta c.*4140
. . . . . . g.26064
gtacccagggctgccaggcagggccctgcaggggacagacccaagggctgatatggggac c.*4200
. . . . . . g.26124
acctgctgaggggggaatttaccacggtaagggcagggctgggaggctgggcagccagtt c.*4260
. . . . . . g.26184
tcaccctcgcacaggctgcctggcaagaccagcggctggaggtgatgtcctcagtagaga c.*4320
. . . . . . g.26244
acggtggccactggaaacgtgtggccagaaggggaaacgctcgggcctctggtgggggcc c.*4380
. . . . . . g.26304
agcctggggtggggtcggccagggtcagctgcctttccttcatgctggggaggagatgtt c.*4440
. . . . . . g.26364
gtgtgcatgtgagaaagcatttgatagcatgccaaaagtttcctccattatgtgcgtgtc c.*4500
. . . . . . g.26424
aagtgtttgaccaggtcagaactcttgttctatgcgaatgtgctcacgcagacagaagcg c.*4560
. . . . . . g.26484
gaggggctccgtcgctctgccctcacgccgctgaaccgcgagggtctcccgctcctcagg c.*4620
. . . . . . g.26544
cttgcggctcggccgcgaagtgtgtcaggtgtgcatcctgggtgctcctttgtgctctgt c.*4680
. . . . . . g.26604
cctacggtgacacaggcggcgtggggttagacaggtaccggtcagactacggtgacacag c.*4740
. . . . . . g.26664
gcggcgtgcggttagacaggtaccggtcagattacggtggcacaggcggcgtggggttag c.*4800
. . . . . . g.26724
acaggtaccggtcagattacggtggcacaggcggcgtggggttagacaggtaccggtcag c.*4860
. . . . . . g.26784
attacggtggcacaggcggcgtggggttagacaggtaccggtcagattacggtggcacag c.*4920
. . . . . . g.26844
gcggcgtggggttagacaggtaccggtcagattacggtggcacaggcagcgtggggttag c.*4980
. . . . . . g.26904
acaggtaccggtcagattacggtggcacaggcggcgtggggttagacaggtaccggtcag c.*5040
. . . . . . g.26964
attacggtggcacaggcggcgtggggttagacaggtaccggtcagattacggtgacacag c.*5100
. . . . . . g.27024
gcggcgtggggttagacaggtaccggtcagattacggtggcacaggctgcgtggggttag c.*5160
. . . . . . g.27084
acaggtaccggtcagattacggtggcacaggcggcgtggggttagacaggtactggtcag c.*5220
. . . . . . g.27144
atgcacgggctccctaaacccctgctgtggcttcggcagtaaagacaggacgcacccatg c.*5280
. . . . . . g.27204
tcacaagaggagcacaggcaggggtgttggtgttggggcagccctcagggtctccagacc c.*5340
. . . . . . g.27264
ccagccccactcacacagcagcctaggaaggaagggcagagtcccaggtgtcagctggtg c.*5400
. . . . . . g.27324
ggtctcccaggagctgcccctccctggaagtcacaggacaggaatgacagatcagggaac c.*5460
. . . . . . g.27384
tgcaggaagctgccacctctggggtcagaatatgcccagcctgcgggggctctctatcgg c.*5520
. . . . . . g.27444
ggtcttcgagagccagacagcctgccttgtgctgcatacctggctttgctctgtgcagaa c.*5580
. . . . . . g.27504
cccagcacacgtgattttgtgtgacatgccagcagcctggctcccaggacaggaggcctg c.*5640
. . . . . . g.27564
ccctgggggaggggctgcaggaggagggggggcaggcacccatgagtctgtccagccttg c.*5700
. . . . . . g.27624
tcacagatgcatcgcccaccctgcggtcctgatttcagctcacctcagagtaaatcagaa c.*5760
. . . . . . g.27684
taaactgcacccagactttcacgaatgcatgttgacgctttcagttcacccctttctttg c.*5820
. . . . . . g.27744
ctaactttcttcctattttcttctaatgcgagagcttattaattccatatttatcatttt c.*5880
. . . . . . g.27804
gaataacttttctcctttttagtaacaaaatgtacttcactcttagtaaaatgtatttac c.*5940
. . . . . . g.27864
tattttagtaacaaaaatatacttgcctaatcatgtttaaaatatagtgatgtgaaaaat c.*6000
g.27867
tca c.*6003
(downstream sequence)
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