(used for variant description)
(last modified July 12, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_006493.2 in the CLN5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000013.10, covering CLN5 transcript NM_006493.2.
(upstream sequence)
. . g.5028
cgccgcgggccgggcgcggggaggtgtc c.-1
. . . . . . g.5088
ATGCGCCGGAACCTGCGCTTGGGGCCAAGCTCTGGAGCTGACGCGCAGGGGCAAGGCGCC c.60
M R R N L R L G P S S G A D A Q G Q G A p.20
. . . . . . g.5148
CCGCGTCCCGGACTGGCGGCTCCGCGCATGCTCCTCCCACCGGCGTCGCAGGCCTCGAGA c.120
P R P G L A A P R M L L P P A S Q A S R p.40
. . . . . . g.5208
GGCTCCGGAAGTACTGGGTGCAGCCTGATGGCGCAGGAGGTAGACACGGCACAGGGCGCC c.180
G S G S T G C S L M A Q E V D T A Q G A p.60
. . . . . . g.5268
GAGATGCGGCGGGGCGCGGGCGCGGCTCGGGGACGCGCTTCCTGGTGCTGGGCCCTGGCG c.240
E M R R G A G A A R G R A S W C W A L A p.80
. . . . . . g.5328
CTGCTTTGGCTCGCGGTGGTTCCGGGCTGGTCCCGGGTCTCGGGCATCCCCTCCCGGCGC c.300
L L W L A V V P G W S R V S G I P S R R p.100
. . | 02 . . . . g.8179
CACTGGCCGGTGCCCTACAA | GCGCTTTGACTTCCGTCCAAAACCTGATCCTTATTGTCAA c.360
H W P V P Y K | R F D F R P K P D P Y C Q p.120
. . . . . . g.8239
GCTAAGTATACTTTCTGTCCAACTGGCTCACCTATCCCAGTTATGGAGGGTGATGATGAC c.420
A K Y T F C P T G S P I P V M E G D D D p.140
. . . . . . g.8299
ATTGAAGTTTTTCGATTACAAGCCCCAGTATGGGAATTTAAATATGGAGACCTCCTGGGA c.480
I E V F R L Q A P V W E F K Y G D L L G p.160
| 03 . . . . . . g.9032
CACTTG | AAAATTATGCATGATGCCATTGGATTCAGAAGTACATTAACTGGCAAGAACTAC c.540
H L | K I M H D A I G F R S T L T G K N Y p.180
. . . . . . g.9092
ACAATGGAATGGTATGAACTTTTCCAACTTGGCAACTGTACATTTCCCCATCTCCGACCT c.600
T M E W Y E L F Q L G N C T F P H L R P p.200
. . . . . . g.9152
GAAATGGATGCCCCTTTCTGGTGTAATCAAGGCGCTGCCTGCTTTTTTGAGGGAATTGAT c.660
E M D A P F W C N Q G A A C F F E G I D p.220
. . . . . | 04 . g.13542
GATGTTCACTGGAAGGAAAATGGGACATTAGTTCAAGTAGCAACTATATCAG | GAAACATG c.720
D V H W K E N G T L V Q V A T I S G | N M p.240
. . . . . . g.13602
TTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACA c.780
F N Q M A K W V K Q D N E T G I Y Y E T p.260
. . . . . . g.13662
TGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGT c.840
W N V K A S P E K G A E T W F D S Y D C p.280
. . . . . . g.13722
TCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAAC c.900
S K F V L R T F N K L A E F G A E F K N p.300
. . . . . . g.13782
ATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAAT c.960
I E T N Y T R I F L Y S G E P T Y L G N p.320
. . . . . . g.13842
GAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTT c.1020
E T S V F G P T G N K T L G L A I K R F p.340
. . . . . . g.13902
TATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATT c.1080
Y Y P F K P H L P T K E F L L S L L Q I p.360
. . . . . . g.13962
TTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTT c.1140
F D A V I V H K Q F Y L F Y N F E Y W F p.380
. . . . . . g.14022
TTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGA c.1200
L P M K F P F I K I T Y E E I P L P I R p.400
. . g.14046
AACAAAACACTCTCTGGTTTATAA c.1224
N K T L S G L X p.407
. . . . . . g.14106
aacaccttaattctactgctcttttttctccaatcaccagcatctgtttttcagggggtg c.*60
. . . . . . g.14166
attttacttttgtgaattccttagcctttcttccttggtgcataaagttaaaatgcacat c.*120
. . . . . . g.14226
cagcagaattgctgcatattaacatctcaggactcttctcttgtaaagaagctgaaattc c.*180
. . . . . . g.14286
gtactatattggccaaagtgagcgagttaggtgatcttggtttcaatttccgagcctttg c.*240
. . . . . . g.14346
ttaatatggagaattatggttcatatcagttatgtaggacctttggacccagggtcctac c.*300
. . . . . . g.14406
agatagatatggtgtgcccagattttaaaaataccttcaaaaataaaaaatacattcagt c.*360
. . . . . . g.14466
gacattttcatggtgggagctcttctttctgatatggcagttacactttttcacttaagt c.*420
. . . . . . g.14526
gctttagtttagactaactttacaacttctataacttttggaaccaagtttagtatagtc c.*480
. . . . . . g.14586
tgattacattccattcacctaactttagacattcgtttagacaccataactggagtgatt c.*540
. . . . . . g.14646
gtgcttctagatgtggcaaatccagtgttaacacatatttctggctgagattttggaact c.*600
. . . . . . g.14706
agctagtaactggcttgtgttctttaagcatactaacatcactaaatcttaggatttagg c.*660
. . . . . . g.14766
attgctgtaaagatgtaagttgtgtatgtttggcaggtcacattgaatggcagtgataat c.*720
. . . . . . g.14826
gattaatcaaagaacaaatgtcatccttgatcttgcctaatgtagtttatgtgccaaact c.*780
. . . . . . g.14886
ttccagggttttgtagtcacctagattttaagctgatagcatagtgcttcagcggttctt c.*840
. . . . . . g.14946
ctaaccggggtatgcaggaacatggctgcagacacgtttgggtaaacaggcaccttctga c.*900
. . . . . . g.15006
cttcttcattgtttcctgtagttctccctcttcccacaaagctgtcagcgcagtggaaga c.*960
. . . . . . g.15066
ggttgcacttctccgagagaggacaggtttctgttaagatcaccaagtagctgtgcttta c.*1020
. . . . . . g.15126
attagagccagacaagctttcaaggtcctttaagtatttgatgatcaactgaacacgttt c.*1080
. . . . . . g.15186
ctattcaaggagaaaacaccattcagtaagaagatggagtagatatcagataaaacaatt c.*1140
. . . . . . g.15246
cacgtttaatatgtaaatgtaccaattatgtgattcagtttcaactttcaagtacttcct c.*1200
. . . . . . g.15306
gagaggttagtacattattattgagctctcacagaaagcttaatcatagatataattaac c.*1260
. . . . . . g.15366
ctgatccaaatgagtaaagtggaccttagaaaggctaagtgatctttctctggctatcca c.*1320
. . . . . . g.15426
gctagtagtaatgaagtcaggtcttgaaccccggttctgctgactgaattggatgcacta c.*1380
. . . . . . g.15486
tagtacaggcttttagcaccgaagtgtggtcctcagaccagtgcctgccaaccagatgtt c.*1440
. . . . . . g.15546
actggtctgtgaggaaataagtacagatactgacaggaagcttttataaacaatttattg c.*1500
. . . . g.15594
gagtgtttttgtttctgttgggtctaattaaaaaaattggagcttgta c.*1548
(downstream sequence)
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