(used for variant description)
(last modified August 24, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_004311.3 in the ARL3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering ARL3 transcript NM_004311.3.
(upstream sequence)
. . . g.5038
gcgcactctggggaaagcggagctgcaccccgccccgt c.-121
. . . . . . g.5098
attgctgctcagctcctcagctgtgcgtgcgagggacgtcgggggcggcgccgcagcagt c.-61
. . . . . . g.5158
tgcccctggtaacgggggaggcagcaggaggaggaggaggaggagggactcggcgggagg c.-1
| 02 . . . . . . g.14001
ATG | GGCTTGCTCTCAATTTTGCGCAAGTTGAAAAGTGCACCAGACCAGGAGGTGAGAATA c.60
M | G L L S I L R K L K S A P D Q E V R I p.20
. . . . . . g.14061
CTTCTCCTGGGCTTGGATAATGCTGGCAAGACCACTCTTCTGAAGCAGCTTGCATCTGAA c.120
L L L G L D N A G K T T L L K Q L A S E p.40
. . | 03. . . . g.19977
GACATCAGCCACATCACACCTACACAG | GGTTTCAACATCAAAAGTGTACAATCACAAGGT c.180
D I S H I T P T Q | G F N I K S V Q S Q G p.60
. . . . . . g.20037
TTTAAACTGAATGTATGGGACATTGGTGGACAGAGGAAAATCAGACCATACTGGAAGAAT c.240
F K L N V W D I G G Q R K I R P Y W K N p.80
. . | 04 . . . . g.29526
TATTTTGAAAATACCGATATTCTT | ATATATGTAATCGACAGTGCAGACAGAAAAAGATTT c.300
Y F E N T D I L | I Y V I D S A D R K R F p.100
. | 05 . . . . . g.33477
GAAGAGACGGGTCAG | GAACTAGCGGAATTACTGGAGGAAGAAAAACTAAGTTGTGTGCCA c.360
E E T G Q | E L A E L L E E E K L S C V P p.120
. . . . . . g.33537
GTGCTCATCTTTGCTAATAAGCAGGATTTGCTCACAGCAGCCCCTGCCTCTGAAATTGCA c.420
V L I F A N K Q D L L T A A P A S E I A p.140
. . . . . . g.33597
GAAGGACTGAACCTGCATACCATCCGCGACCGAGTCTGGCAGATCCAGTCTTGCTCAGCT c.480
E G L N L H T I R D R V W Q I Q S C S A p.160
. . | 06 . . . . g.42531
CTCACAGGAGAGGGCGTTCAG | GATGGCATGAACTGGGTCTGCAAAAATGTCAATGCAAAG c.540
L T G E G V Q | D G M N W V C K N V N A K p.180
g.42540
AAGAAATAA c.549
K K X p.182
. . . . . . g.42600
aatctagacgaatggagatgcaggagctgcgggagccgaattcggtcctgaaaaacacta c.*60
. . . . . . g.42660
atttgctgctttctgaccaaatgtttttccatctgtgtacagctccagctgtttgaagag c.*120
. . . . . . g.42720
agggaacaacacggtttagaaagaatccccattccagcagtagatttaactgatctctga c.*180
. . . . . . g.42780
ggttcagtatcatttttcaaataaaggaattatattatttcctctgcataattgaaatag c.*240
. . . . . . g.42840
tattaaatgtctcaaagcacatgattagaaaatgagatcttttaaatgagcaagagattg c.*300
. . . . . . g.42900
cattgcagtttagacaattccagtgggcttttttttcctctcaaaaaaaaaaaaagaaaa c.*360
. . . . . . g.42960
agaaaaagaggaagaagcagctttgctgagttcatttatttactgacccgtcccttgcat c.*420
. . . . . . g.43020
tccctccatggttttgaaaccacagacagtgtttgctggtgctgtcagtgatttttaccg c.*480
. . . . . . g.43080
tcactagcccagccaggcttcagtctgtccgacaggaagctgctgggtgggggtgggggg c.*540
. . . . . . g.43140
agaaaaggcagataattaaaccatctcatcgtcttgcaggtcggagactacgtatgtaat c.*600
. . . . . . g.43200
cctcactctttggacagaaaaaaaaaaaaaagtctttcttgcagacaagtcactacagaa c.*660
. . . . . . g.43260
acataccccatcccacccacccctgcctctgccccagccagccacacagagaagcaaatt c.*720
. . . . . . g.43320
cttatgacttttgactgtaatgacatctggaatgtaaggagaggtgggaggtttaattcc c.*780
. . . . . . g.43380
agaaaaattacaaggtccttaaaaagctctcacatcgagggctcaggctagcgtaaacag c.*840
. . . . . . g.43440
gctttctccagctcagtggagcagtgagcagccgactctgagattagctggcttctccac c.*900
. . . . . . g.43500
ggccgtcctatagacaggatttctaaagctcaaagaattctgtgtttaaacgatcacaat c.*960
. . . . . . g.43560
aggccgctgctatcagattttagaaataaatgcagctttaccatgaacctgctccactga c.*1020
. . . . . . g.43620
gaaaagccaggcagatcgatttttagatcaatttttacagtgctggcaacttggtggtgt c.*1080
. . . . . . g.43680
gggatgctcctggatggagagggtttgctgctggggaggacatgggtgtgtgtgtgactg c.*1140
. . . . . . g.43740
caggggtcgtgtccaaggaatcaagagtcaccccagctgctgggctcctctgcctctctg c.*1200
. . . . . . g.43800
cagcagaatgtccgtcctctgttgattgattggagaggaatagcagaacatttctcctgc c.*1260
. . . . . . g.43860
ccctcgttgcaaaacgagcttgtttccctgaacctcagaaatcctcagcttcaaacatgg c.*1320
. . . . . . g.43920
ggaaacaggccagagcattgcccggctcctgaattaaactctgttctggtgcctgagctc c.*1380
. . . . . . g.43980
aggggttttcagagaatgaataagagactgtccagtgactggtgggtccctgggggccag c.*1440
. . . . . . g.44040
ctgccttctcatcctgggaggtggcccttcccaagcccatcagggcgtgtgagcagactg c.*1500
. . . . . . g.44100
aaggggccgctgcagcccctggccctcaatacccagctgcttctggctaagagtgcagca c.*1560
. . . . . . g.44160
gagactgaggcatagccagcttcaaaagcgatctgacatgaaagtcattaacaaagccag c.*1620
. . . . . . g.44220
ccgtgaaaaggtgccccagagttgctgtggacagacctgtaaggacttgcaaaacaaaag c.*1680
. . . . . . g.44280
aaagtgaggggtttttttaacctcagagctagctgctctctgcagcctcctccactggct c.*1740
. . . . . . g.44340
tctctggctcacccaagctctcccttacagaggcaacacagaattataaggaatcagaaa c.*1800
. . . . . . g.44400
tcccccttctaccaggctgcaaatgtggctctagcacttgcaaattgttttttcttccga c.*1860
. . . . . . g.44460
atagttcagcagggacaagttatctgaggggcaaaatgcctgcttggaggtctgcaattt c.*1920
. . . . . . g.44520
tggaacactgcagtatggaactttggcattggagggtctgtaaaatatttttgttctttt c.*1980
. . . . . . g.44580
accaccaacttaggggactgttttaaagagccatcccaaggcctctcctagcaggcagaa c.*2040
. . . . . . g.44640
gccactcctctgataacggcctctgtaaatgttctgatttgctctcagctgcagagacac c.*2100
. . . . . . g.44700
agagacactgcagatgtcacacgctttcatcttccctttgagcccttttgaaccctcctg c.*2160
. . . . . . g.44760
gggctctggggtagatgagagaagcctgaaaaaggcagagtttgaaagctcccatttaaa c.*2220
. . . . . . g.44820
aacaaaatactttttaaagccctcttgcctcttccctgcccactcctgccccctgaccag c.*2280
. . . . . . g.44880
aagacagaatttgaagctggaaagggaagaccccttttcccctcctcctgtccccagtga c.*2340
. . . . . . g.44940
gtcttagcgagacttttgccctgcgcacaattgcatctgaatgtgcgggggagagggctg c.*2400
. . . . . . g.45000
ggggccggagggcaggcaaggcctggggggtgctcgtgatatgtgctcaagccagttgtg c.*2460
. . . . . . g.45060
ggaaaaactcgagtcctcccctcctcccgacctaccccgtgtggctgcttttggctggat c.*2520
. . . . . . g.45120
tccctgcacccagtgcaacacaccctttccccttcactctcccttggttactatggaaac c.*2580
. . . . . . g.45180
aagggtgtcattgatgtgggctgagctggggaacatgtcggtgcacagctgaaagtcagc c.*2640
. . . . . . g.45240
gattatgccggcggttagaaatgtgccagggttaaaggagtccgcagctcccacggctgc c.*2700
. . . . . . g.45300
tgggaggacatggtcctgcccccttccttcctccctccctccgtctccacttctctctcc c.*2760
. . . . . . g.45360
ttgcttttgacaaatttctttattcccctctggactaaagtagtggctatttttgtgcca c.*2820
. . . . . . g.45420
ctctgcgccccaccctcactgttggccgctccttatccggcctggcctggagggtgacac c.*2880
. . . . . . g.45480
catgtcaccctcaccaggactcgtctctccattcccgtcagagtttgctttgatttccct c.*2940
. . . . . . g.45540
ttcctttccttctcggggaccagttcttacttccttttatttttagctctgcactccatg c.*3000
. . . . . . g.45600
tggtttcagggttcagtctgatccatcaaaaggttctttttttataatcccttttgaaaa c.*3060
. . . . . . g.45660
tgataatcaaaggaagagatgtggtgtttggtcatgtggaaaactcaatgtataatttag c.*3120
. . . . g.45707
acgtctgtcaaaaatccgacaaataaaatttagctggaacgaaggca c.*3167
(downstream sequence)
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