(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)Legend:
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