(used for variant description)
(last modified February 27, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001278293.1 in the ARL6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering ARL6 transcript NM_001278293.1.
(upstream sequence)
g.4774
aact c.-481
. . . . . . g.4834
cccatgatgctacgccgggaactgcccggctcctcgcaggaaataggcagctcaccctgc c.-421
. . . . . . g.4894
cacctgtgcacacatttttcttcaatgtatagttcctcggcgcgcctctgaccttttccc c.-361
. . . . . . g.4954
ggagctcttcaatcccagaagctatagcacaacggctgaatcgccaggacccccggggag c.-301
. . . . . . g.5014
gcgtggcttcaggaccggaagaagctcctgttgccaagggaacggtgcctgccaaggcgc c.-241
. . . . . . g.5074
ctgctcagcgactgatgcacagactgctgcagaggctgccggttttcccaacttctagag c.-181
. . . . . . g.5134
acggctttgctcattaccaggcatccttcccatgtaggcatcgagaagaaggctgaggga c.-121
. . . . . . g.5194
ccctcgcaccagatttccatcccggagaccgatacgagtgcgtccattcctgttgccagc c.-61
. . . . | 02 . . g.8357
tcctgcgccctccggactaacctcaaaaaccag | ctggtttgtaaatatttgaatcacatt c.-1
. . . . . . g.8417
ATGGGATTGCTAGACAGACTTTCAGTCTTGCTTGGCCTGAAGAAGAAGGAGGTTCATGTT c.60
M G L L D R L S V L L G L K K K E V H V p.20
. . . . . . g.8477
TTGTGCCTTGGGCTAGATAATAGTGGCAAAACGACGATCATTAACAAACTTAAACCTTCA c.120
L C L G L D N S G K T T I I N K L K P S p.40
| 03 . . . . . . g.20465
AAT | GCTCAATCTCAAAATATCCTTCCAACAATAGGATTCAGCATAGAGAAATTCAAATCA c.180
N | A Q S Q N I L P T I G F S I E K F K S p.60
| 04 . . . . . . g.20919
TCCAG | TTTGTCATTTACAGTGTTTGACATGTCAGGTCAAGGAAGATACAGAAATCTCTGG c.240
S S | L S F T V F D M S G Q G R Y R N L W p.80
. | 05 . . . . . g.25250
GAACACTATTATAA | AGAAGGCCAAGCTATTATTTTTGTCATTGATAGTAGTGATAGATTA c.300
E H Y Y K | E G Q A I I F V I D S S D R L p.100
. . . . | 06 . g.28250
AGAATGGTTGTGGCCAAAGAAGAACTCGATACTCTTCTGAATCATCCAG | ATATTAAACAC c.360
R M V V A K E E L D T L L N H P D | I K H p.120
. . . . . . g.28310
CGTCGAATTCCAATCTTATTCTTTGCAAATAAAATGGATCTTAGAGATGCAGTGACATCT c.420
R R I P I L F F A N K M D L R D A V T S p.140
. . . . . | 07 g.32021
GTAAAAGTGTCTCAGTTGCTGTGTTTAGAGAACATCAAAGATAAACCCTGGCATATTTG | T c.480
V K V S Q L L C L E N I K D K P W H I C | p.160
. . . . . | 08 . g.38278
GCTAGTGATGCCATAAAAGGAGAAGGCTTGCAAGAAGGTGTAGACTGGCTTCAAG | ATCAG c.540
A S D A I K G E G L Q E G V D W L Q D | Q p.180
. . g.38299
ATCCAGACTGTGAAGACATGA c.561
I Q T V K T X p.186
. . . . . . g.38359
aaagataatagttggaaacctcagcaattttcaattcaaggaatctatctaagacaaata c.*60
. . . . . . g.38419
gaatacattttgtaaaagatgtttatgcatcaaaaaatataattttctgcttgcatttat c.*120
. . . . . . g.38479
ggactctgacctttttaagaacataggacttcaggtatgctaatttggccattaattatt c.*180
. . . . . . g.38539
taaaaactaaatattccctcaaaagggctccctagaattatcaagttcttagtgaaggtc c.*240
. . . . . . g.38599
tacatttgattgtacgtagaatgtttaaaagtcagttataagccatctcatcccatcata c.*300
. . . . . . g.38659
atttatgatatgtttaatatattttattttttaattgtctttttaaaaaatttagtttat c.*360
. . . . . . g.38719
gactttgcagtatgaattgtgcttgtgaaaaagaactttaaatatttataagggaccatg c.*420
. . . . . . g.38779
ggtaattaatatatattcaatttttactatgtgtcactgtcaataaaatgtaaaatataa c.*480
g.38785
tgtgcc c.*486
(downstream sequence)
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