(used for variant description)
(last modified June 21, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_182896.2 in the ARL13B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_017076.1, covering ARL13B transcript NM_182896.2.
(upstream sequence)
. . . . g.5045
agcacgtcgacgcggggcttttctttagccgggtcccgctaactc c.-241
. . . . . . g.5105
ggctacggtgtatctgcgtctttggtcaggttgttccttggctaagagggcagtcgtcgc c.-181
. . . . . . g.5165
ggacccacgcggttagcaaggcttagtgctcgggccggccgccttcacttccctcccggc c.-121
. . . . . . g.5225
ttttcctcccgacttatccactttaggggcgtctcggagtgccggaggcccccggggaag c.-61
. . . . . . g.5285
agcggggtgccggtgtccgctccgggctcggatgggaagtggtgggaggagcgacccggg c.-1
. . . . . | 02 g.20736
ATGTTCAGTCTGATGGCCAGTTGCTGCGGCTGGTTCAAGCGGTGGCGGGAGCCTGTCAG | A c.60
M F S L M A S C C G W F K R W R E P V R | p.20
. . . . . . g.20796
AAGGTGACTCTTTTGATGGTGGGACTTGATAATGCTGGTAAAACCGCAACAGCAAAGGGA c.120
K V T L L M V G L D N A G K T A T A K G p.40
. | 03 . . . . . g.28570
ATCCAAGGAG | AATACCCTGAAGATGTAGCTCCTACTGTTGGATTTTCAAAAATTAACCTT c.180
I Q G E | Y P E D V A P T V G F S K I N L p.60
. . . . . . g.28630
AGACAAGGAAAGTTTGAAGTCACCATCTTTGACTTGGGAGGTGGAATAAGAATTCGGGGA c.240
R Q G K F E V T I F D L G G G I R I R G p.80
. . . . . . g.28690
ATCTGGAAGAATTACTATGCTGAATCCTATGGGGTAATATTTGTTGTGGATTCCAGTGAT c.300
I W K N Y Y A E S Y G V I F V V D S S D p.100
. . . . . . g.28750
GAAGAGAGAATGGAAGAGACAAAAGAGGCTATGTCAGAAATGCTAAGACATCCTAGGATA c.360
E E R M E E T K E A M S E M L R H P R I p.120
. . | 04 . . . . g.60232
TCGGGAAAGCCTATATTGGT | GTTGGCAAATAAACAAGATAAAGAAGGAGCTTTAGGAGAA c.420
S G K P I L V | L A N K Q D K E G A L G E p.140
. . . . . . g.60292
GCTGATGTCATTGAATGTCTATCTCTGGAAAAATTGGTCAATGAGCACAAGTGCCTGTGT c.480
A D V I E C L S L E K L V N E H K C L C p.160
| 05 . . . . . . g.61467
CAGATA | GAACCATGTTCAGCAATCTCGGGGTATGGAAAGAAAATTGACAAGTCCATTAAA c.540
Q I | E P C S A I S G Y G K K I D K S I K p.180
. . . . . . g.61527
AAAGGCCTTTATTGGCTGCTACATGTTATTGCAAGAGACTTTGATGCCTTAAATGAACGC c.600
K G L Y W L L H V I A R D F D A L N E R p.200
. . . . . . g.61587
ATCCAAAAAGAGACAACAGAGCAGCGTGCTCTTGAGGAACAAGAGAAACAAGAAAGAGCT c.660
I Q K E T T E Q R A L E E Q E K Q E R A p.220
. . | 06 . . . g.64772
GAACGAGTGCGAAAATTACGAGAAGAAAG | AAAACAAAATGAACAGGAGCAGGCTGAACTC c.720
E R V R K L R E E R | K Q N E Q E Q A E L p.240
. . . . . . g.64832
GATGGAACCAGTGGTCTGGCTGAGTTGGACCCAGAACCAACGAATCCTTTCCAGCCAATA c.780
D G T S G L A E L D P E P T N P F Q P I p.260
. | 07 . . . . g.67918
GCATCTGTAATCATTGAG | AATGAAGGAAAACTTGAAAGAGAGAAAAAAAACCAAAAAATG c.840
A S V I I E | N E G K L E R E K K N Q K M p.280
. . . . . . g.67978
GAGAAAGACAGTGATGGCTGCCACCTGAAACATAAAATGGAGCATGAGCAAATAGAGACA c.900
E K D S D G C H L K H K M E H E Q I E T p.300
. . . . . . g.68038
CAAGGCCAGGTTAATCACAATGGCCAAAAAAATAATGAATTTGGACTAGTAGAAAATTAT c.960
Q G Q V N H N G Q K N N E F G L V E N Y p.320
. . . . . . g.68098
AAGGAGGCATTAACACAGCAGTTAAAGAATGAAGATGAGACAGACCGGCCATCATTGGAA c.1020
K E A L T Q Q L K N E D E T D R P S L E p.340
| 08 . . . . . . g.74323
TCAG | CTAATGGTAAAAAGAAAACTAAGAAACTAAGAATGAAAAGGAACCACCGGGTAGAA c.1080
S A | N G K K K T K K L R M K R N H R V E p.360
. . . . . . g.74383
CCACTTAATATAGATGACTGTGCTCCTGAGAGTCCAACGCCACCCCCACCCCCTCCTCCT c.1140
P L N I D D C A P E S P T P P P P P P P p.380
| 09 . . . . . . g.75744
G | TTGGCTGGGGAACCCCTAAAGTCACTAGACTTCCAAAACTTGAGCCTCTTGGTGAAACA c.1200
V | G W G T P K V T R L P K L E P L G E T p.400
. | 10 . . . . . g.78098
CATCATAATG | ATTTCTATAGGAAGCCACTGCCTCCCCTGGCTGTGCCACAGCGACCTAAC c.1260
H H N D | F Y R K P L P P L A V P Q R P N p.420
. . g.78125
AGTGATGCTCATGATGTGATCTCATAA c.1287
S D A H D V I S X p.428
. . . | 11. . . g.78341
acaagacgtatggaggagttctcttaatatcagcaag | aagcacaatgaccagtacatgaa c.*60
. . . . . . g.78401
atcagcatttggaccaaattagcaagatttactgttgactctggtttatacatccccact c.*120
. . . . . . g.78461
catgagcatacttctgaaggaaaactttacaaaaagagccaatggactcagcactttctt c.*180
. . . . . . g.78521
tactatttgttcaatagcctatatttctagatattaaatattttttgtaagatatatgca c.*240
. . . . . . g.78581
catagaagggggacttctaggaatttataaccaaaattttaaaactatttttatattttt c.*300
. . . . . . g.78641
ttaaatctttaaaaattttaattactgtgatattgattatacaccttttttatagatgat c.*360
. . . . . . g.78701
ttgtttaaattatatctggaaaatagagttgatttactttcagacatgaactatacaaac c.*420
. . . . . . g.78761
aggatatatttatatggcttgaggtatgttttgtaatagcgttgttctttaagtgtacat c.*480
. . . . . . g.78821
cgtaatttgacctaatttaaaaataatatattttcgaagtagtagattctcagatcttta c.*540
. . . . . . g.78881
ttctaacaattacatgatttgaaaacagtactcaatgagactggaaataccttttgtacc c.*600
. . . . . . g.78941
taaatgttttttaaattaatcaaaatacattctgtgagatactattaaaagtctcagtaa c.*660
. . . . . . g.79001
agtcctattttaaaggttagacactttcagagatcaaggtgctccctatactcccttgtt c.*720
. . . . . . g.79061
ccatcagaagctgcagtgactcttttaggtgattctaattctttcatgccttgaaattaa c.*780
. . . . . . g.79121
actatgaaattaaaggcagaaaaactggaaaacctactgcaggtccagagacttctgttt c.*840
. . . . . . g.79181
tacaactgggaaacagcttgtgtactaaagtaatgagaataaaaatgttggcccaaaatt c.*900
. . . . . . g.79241
acttttataaataaataattccaaaataatttcttaatttaaaatgatagcacttctctt c.*960
. . . . . . g.79301
gcacttaagaatggcatccataagattctgtatttggcatttagactaacttctagatgt c.*1020
. . . . . . g.79361
atatttttaataatagattcataatgttacatttaattgaaaacaaacctttatatccaa c.*1080
. . . . . . g.79421
tgaaaatagtataaacagaatgatttttataccaccttgttaagattggtgcttttggta c.*1140
. . . . . . g.79481
acttgtactgacacaacagacatgtgctagtatctgataacattaagtacattttatgtc c.*1200
. . . . . . g.79541
gtttaatataattatttactttaaaaattgtacttcagaacatcagattttattcacatt c.*1260
. . . . . . g.79601
ttttaactcactgaactttaataatcaggtcacctgtactctagtcagcactgtatatat c.*1320
. . . . . . g.79661
tcttggagtttgtacatgggacttagcaaccacactgagtgaggtaaaagcatttgattt c.*1380
. . . . . . g.79721
cagatctaaaattcgtaacaacctaaatttgagaggtggctgaaatgtgatgaaaagcaa c.*1440
. . . . . . g.79781
tacgaaaagacaatgtaaactttgaaaaggattttagagggaaaattgcatagctttttg c.*1500
. . . . . . g.79841
taacatttacttaattttaaaactaaactcatacttttgctatctttttaatatttatct c.*1560
. . . . . . g.79901
cgtttgggagtatacgtgtttttaaaatttgtgttttctatctgtttactatagtgtagc c.*1620
. . . . . . g.79961
tactggcttcatttaataaaaataaatgattttgaaattaaatataatatagaattcaca c.*1680
. . . . . . g.80021
ttttatatagctctctcaaaaattaatttttattccttaagcattttaaaaacattttaa c.*1740
. . . . . . g.80081
aaaatgttttgtaaatccaggtgtattttaacaattaaatgcctattttgttatatgtta c.*1800
. . . . . . g.80141
tacttttattcttaattctgaattttgacattttcacacaataaaaataatttatatcaa c.*1860
. . . . . . g.80201
tattctgtttctcttttcaattggtagatttaaatgatttcctttgggtaataaaatagg c.*1920
. . . . . . g.80261
taaagattttaaaatatgattattgaaaaacagtttaaatcagtagattaaaataatgca c.*1980
. . . . . . g.80321
tttttttgatactttacacacaaaacttttttctctctgcaagtttttatgtatgtggga c.*2040
. . . . . . g.80381
aagaatttgtgattttaaatgcagctacaaatagcatttcaccatatgatgttagaggat c.*2100
. . . . . . g.80441
ttgatgtctgtcttgcgttaaagctgttggtcaacagatatgtttttatgtatttaaaag c.*2160
. . . . . . g.80501
aggctcttgtgtgcctttatgtgtaaaatgcatattacgtagtatacatgatattgtatg c.*2220
. . . g.80540
taactgacttcaaatataaaactatgcatagaaacaaca c.*2259
(downstream sequence)
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