(used for variant description)
(last modified March 1, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_181714.3 in the LCA5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016011.1, covering LCA5 transcript NM_181714.3.
(upstream sequence)
. g.5012
agtctaggcctc c.-601
. . . . . . g.5072
cgcctccgttaccctggagcccaggttaccgccgctgccacccaggagccccgatcctcg c.-541
. . . . . . g.5132
cctctgtcccatccttgtgttcaaacctcccgcatctcggcaacctcggcacccgcccgg c.-481
. . . . . . g.5192
cagcctccgcaggaaccaggcacccgctctttggcggtcagacgccgaggccccagctgg c.-421
. . . . . . g.5252
gagtttggtcctaagagggaaggcaaggaggcgggacgccgcatcggctctgctgaagag c.-361
. . . . . . g.5312
cctgcgggttggaggtgggctttgaagtgggcgtggagacggcgggggaggtggaggtgc c.-301
. | 02 . . . . . g.17218
gag | tataaatgatcaaccagaaattatcttcaaaggaataaaaccagaagtatgtaaata c.-241
. . . . . | 03 g.23356
aaaagcccaagataaagaaacagaaaagctgacactacatgaagcagag | ggcaaaaaagt c.-181
. . . . . . g.23416
ttatcttctggatgccaatgtgaattgtggtctacaaatacattgtggagaaaatagatt c.-121
. . . . . . g.23476
gcacagaaatgaatattatcaggatctgaagactgtgaaaatgtttttcagtattgtcat c.-61
. . . . . . g.23536
agtctcctctggagaaaataatctgtgaaattatgtgaatagagaccatttttcaaaaca c.-1
. . . . . . g.23596
ATGGGGGAAAGAGCAGGAAGTCCAGGTACTGATCAAGAAAGAAAGGCAGGCAAACACCAT c.60
M G E R A G S P G T D Q E R K A G K H H p.20
. . . . . . g.23656
TATTCTTACTTATCTGATTTTGAAACGCCACAGTCTTCTGGCCGATCATCGCTGGTCAGT c.120
Y S Y L S D F E T P Q S S G R S S L V S p.40
. . . . . . g.23716
TCTTCACCTGCAAGTGTTAGGAGAAAAAATCCTAAAAGACAAACTTCAGATGGCCAAGTA c.180
S S P A S V R R K N P K R Q T S D G Q V p.60
. | 04 . . . . . g.28739
CATCACCAAG | CCCCTCGGAAACCAAGCCCTAAGGGTCTACCAAACAGAAAGGGAGTCCGA c.240
H H Q A | P R K P S P K G L P N R K G V R p.80
. . . . . . g.28799
GTGGGATTTCGCTCCCAGAGCCTCAATAGAGAGCCACTTCGGAAAGATACTGATCTTGTT c.300
V G F R S Q S L N R E P L R K D T D L V p.100
. . . . . . g.28859
ACAAAACGGATTCTGTCTGCAAGACTGCTAAAAATCAATGAGTTGCAGAATGAAGTATCT c.360
T K R I L S A R L L K I N E L Q N E V S p.120
. . . . . . g.28919
GAACTCCAGGTCAAGTTAGCTGAGCTGCTAAAAGAAAATAAATCTTTGAAAAGGCTTCAG c.420
E L Q V K L A E L L K E N K S L K R L Q p.140
. . . . . . g.28979
TACAGACAGGAGAAAGCCCTGAATAAGTTTGAAGATGCCGAAAATGAAATCTCACAACTT c.480
Y R Q E K A L N K F E D A E N E I S Q L p.160
. . . . . . g.29039
ATATTTCGTCATAACAATGAGATTACAGCACTCAAAGAACGCTTAAGAAAATCTCAAGAG c.540
I F R H N N E I T A L K E R L R K S Q E p.180
. . . . . . g.29099
AAAGAACGGGCAACTGAGAAAAGGGTAAAAGATACAGAAAGTGAACTATTTAGGACAAAA c.600
K E R A T E K R V K D T E S E L F R T K p.200
. . . . . . g.29159
TTTTCCTTACAGAAACTGAAAGAGATCTCTGAAGCTAGACACCTACCTGAACGAGATGAT c.660
F S L Q K L K E I S E A R H L P E R D D p.220
. . . . . . g.29219
TTGGCAAAGAAACTAGTTTCAGCAGAGTTAAAGTTAGATGACACCGAGAGAAGAATTAAG c.720
L A K K L V S A E L K L D D T E R R I K p.240
| 05 . . . . . . g.48740
| GAGCTATCGAAAAACCTTGAACTGAGTACTAACAGTTTCCAACGACAGTTGCTTGCTGAA c.780
| E L S K N L E L S T N S F Q R Q L L A E p.260
. . . . . . g.48800
AGGAAAAGGGCATATGAGGCTCATGATGAAAATAAAGTTCTTCAAAAGGAGGTACAGCGA c.840
R K R A Y E A H D E N K V L Q K E V Q R p.280
. | 06 . . . . g.49825
CTATATCACAAATTAAAG | GAAAAGGAGAGAGAACTGGATATAAAAAATATATATTCTAAT c.900
L Y H K L K | E K E R E L D I K N I Y S N p.300
. . . . . | 07 . g.50705
CGTCTGCCAAAGTCCTCTCCAAATAAAGAGAAAGAACTTGCATTAAGAAAAAATG | CTGCA c.960
R L P K S S P N K E K E L A L R K N A | A p.320
. . . . . . g.50765
TGCCAGAGTGATTTTGCAGACCTGTGTACAAAAGGAGTACAAACCATGGAAGACTTCAAG c.1020
C Q S D F A D L C T K G V Q T M E D F K p.340
. . . . . . g.50825
CCAGAAGAATATCCTTTAACTCCAGAAACAATTATGTGTTACGAAAACAAATGGGAAGAA c.1080
P E E Y P L T P E T I M C Y E N K W E E p.360
. | 08 . . . . g.53256
CCAGGACATCTTACTTTG | GACTTGCAATCTCAAAAGCAAGACAGGCATGGAGAAGCAGGG c.1140
P G H L T L | D L Q S Q K Q D R H G E A G p.380
. . . . . . g.53316
ATTCTAAACCCAATTATGGAAAGAGAAGAAAAATTTGTTACAGATGAAGAACTCCATGTC c.1200
I L N P I M E R E E K F V T D E E L H V p.400
. . . | 09 . . . g.54593
GTAAAACAGGAGGTTGAAAAGCTGGAGGATG | AATGGGAAAGAGAAGAACTTGATAAAAAG c.1260
V K Q E V E K L E D E | W E R E E L D K K p.420
. . . . . . g.54653
CAAAAAGAAAAGGCATCTTTACTGGAAAGAGAAGAAAAGCCAGAGTGGGAAACTGGAAGG c.1320
Q K E K A S L L E R E E K P E W E T G R p.440
. . . . . . g.54713
TACCAACTAGGAATGTATCCAATTCAGAATATGGATAAATTGCAAGGAGAGGAAGAAGAA c.1380
Y Q L G M Y P I Q N M D K L Q G E E E E p.460
. . . . . . g.54773
AGACTGAAGAGAGAAATGCTACTTGCTAAACTGAATGAAATTGACAGAGAACTCCAAGAT c.1440
R L K R E M L L A K L N E I D R E L Q D p.480
. . . . . . g.54833
TCTCGAAATCTAAAATACCCTGTTTTGCCATTGTTACCTGATTTTGAATCAAAACTACAC c.1500
S R N L K Y P V L P L L P D F E S K L H p.500
. . . . . . g.54893
TCCCCAGAGAGAAGCCCCAAAACATACAGGTTCTCTGAATCCTCAGAGAGATTATTTAAT c.1560
S P E R S P K T Y R F S E S S E R L F N p.520
. . . . . . g.54953
GGGCATCATTTGCAAGACATCAGTTTCTCAACTCCAAAAGGAGAAGGTCAGAATTCAGGA c.1620
G H H L Q D I S F S T P K G E G Q N S G p.540
. . . . . . g.55013
AATGTTAGAAGTCCAGCCTCCCCTAATGAGTTCGCATTTGGTAGCTACGTGCCTTCGTTT c.1680
N V R S P A S P N E F A F G S Y V P S F p.560
. . . . . . g.55073
GCAAAAACATCAGAGAGGTCAAATCCATTTAGTCAAAAAAGTAGTTTTTTGGATTTCCAA c.1740
A K T S E R S N P F S Q K S S F L D F Q p.580
. . . . . . g.55133
AGAAACAGTATGGAAAAACTTAGTAAAGATGGTGTAGATTTAATTACAAGAAAAGAGAAA c.1800
R N S M E K L S K D G V D L I T R K E K p.600
. . . . . . g.55193
AAAGCTAATTTGATGGAACAGTTATTTGGTGCCAGTGGTAGCAGCACCATTTCCTCCAAA c.1860
K A N L M E Q L F G A S G S S T I S S K p.620
. . . . . . g.55253
AGCAGTGACCCAAATTCTGTGGCTTCCAGTAAAGGAGACATTGACCCTCTAAATTTTCTC c.1920
S S D P N S V A S S K G D I D P L N F L p.640
. . . . . . g.55313
CCTGGGAATAAAGGCAGCAGAGATCAAGAACATGATGAAGATGAAGGCTTTTTCCTCAGT c.1980
P G N K G S R D Q E H D E D E G F F L S p.660
. . . . . . g.55373
GAAGGAAGAAGTTTTAATCCAAATAGGCACCGATTAAAACATGCAGACGATAAACCAGCA c.2040
E G R S F N P N R H R L K H A D D K P A p.680
. . . . . g.55427
GTAAAAGCAGCTGATTCTGTAGAAGATGAAATTGAAGAAGTAGCACTGAGATGA c.2094
V K A A D S V E D E I E E V A L R X p.697
. . . . . . g.55487
ctgactagagtatacattttttctaattgtaaatattgaaatattttaatacagtattta c.*60
. . . . . . g.55547
ttataaacatttagactttttaatgctaaaatgtccttattaaggaatgatttttaatag c.*120
. . . . . . g.55607
ctaaatacaatgcagttaaaaagaagtagatcatacatacaccacatagatagtttgcca c.*180
. . . . . . g.55667
agaatgaaggaggcttttttgaatgaaaccaaaaataaaaatatgtcttgaaaaatgaaa c.*240
. . . . . . g.55727
tagattttaactcttcatccagtgctatggcaagtttaactgcactggaggtggtattcc c.*300
. . . . . . g.55787
ttttctacttttattcctatttatgtatttatttttaatcatattctcactgtgctaaat c.*360
. . . . . . g.55847
acagtcttcccactaattgttgaatgaaaattaagggtgaaagtctgtgttgggaagtgt c.*420
. . . . . . g.55907
agctccggatggtggagaaccagtgcttcttaggagcccttccctttatggatagggcca c.*480
. . . . . . g.55967
ggggtccctatcttacgtggcagtcctaagctactcttgagtgatagcagtcacaacatt c.*540
. . . . . . g.56027
gggatttcccattcctctgaaagtacccacagctaaacactactcatttcccaatttcag c.*600
. . . . . . g.56087
tatttactgaaatcacttacctacaattctgttagaatattatgttgagttcggaagaca c.*660
. . . . . . g.56147
tttctctgtttgcaaggacagttagttgctctctgtcatagcccgcagaagcttggctac c.*720
. . . . . . g.56207
agtgtaattcctctccttgttctcctacactctttgtatctcagtgactgggtgtaagat c.*780
. . . . . . g.56267
ttcatgccaaatgcaaggaatagtggaaatacataccaactgcaaagaatagaaaaactt c.*840
. . . . . . g.56327
tatcccaatatattatagaaagatcttcagttcaattatgtccagagtaatataatttgg c.*900
. . . . . . g.56387
caatgttaatgcttttaagatttgaacttgtcctcaaaccaaggagacaacaatagtgta c.*960
. . . . . . g.56447
atactattggacttacaggattagttttaaagcaactttgaatagaagtgtttcagacat c.*1020
. . . . . . g.56507
aggacttctgccttgttgactagagtggatagttttctgtttaaatgcattggtcttttg c.*1080
. . . . . . g.56567
gctgtttgtaattcacttcagcttatagagaagttgatgaccttggatcatgctgggtat c.*1140
. . . . . . g.56627
gattggtctttaaaaagcagtaatataccaccagcccaaggagaaaacattgttaaaatg c.*1200
. . . . . . g.56687
aagagtggtggaaatagtgtgttgggaagaataaaaaatttagattggcacttattctaa c.*1260
. . . . . . g.56747
agtgagctgtttttttcaagaatttactagcatttgctcgtagtatgatttctgacgcca c.*1320
. . . . . . g.56807
gtcatatatactgatgaggggaaggagttactgtgttattctgagttcttataaatgcat c.*1380
. . . . . . g.56867
attattgaatttcattgcatgactatttgtcaagacttacctggttaggtctccaattaa c.*1440
. . . . . . g.56927
aagatgtaccacctgtcatcttctaaattgtgttcctttcatttattgggaacagaatct c.*1500
. . . . . . g.56987
ctcaaaagtgctaaactatattaaaaagttttcttaatagatttgtatgtctgatatgta c.*1560
. . . . . . g.57047
taaccatttactataatatgttgcaaatcattctaatatatgtaaaacaatattatttgt c.*1620
. . . . . . g.57107
aatgcagttattggtaaaatattatgtaatgttaattttgttcctagctgctaatttttc c.*1680
. . . . . . g.57167
tgccaaaagtattctaattttcaggttgttttaaaggcttttaaaactttttagttaagt c.*1740
. . . . . . g.57227
tttttattcacgtcatttaaattagttttttgctttttttctacctgataatctctttaa c.*1800
. . . . . . g.57287
caagatgcaacaagacagaattattaaaattaaacctaaagttaagttacagatttaaag c.*1860
. . . . . . g.57347
gcattatgatattaagcattaaaattggagattaaaatgtacaaaacagggttttcctta c.*1920
. . . . . . g.57407
tgaacaaaccttacagggtaaattgtttttttttctaaatgtcattaaatttatttgtac c.*1980
. . . g.57440
tcagaactgttactaataaaaattaaaaatgca c.*2013
(downstream sequence)
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