(used for variant description)
(last modified August 27, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_032024.3 in the C10orf11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering C10orf11 transcript NM_032024.3.(upstream sequence) . . . g.5035 gttgaagaaagaggatctggctgaaagacccgcaa c.-181 . . . . . . g.5095 ctttcacttgttgagaacctttagccagcgccggcgtgcatgtgttttagttttattctt c.-121 . . . . . . g.5155 tttcccttgcccccaaagccgtggagtacctgctgttgctctcatgcctcttgccaacag c.-61 . . . . . . g.5215 tggcatctgctcagtgtagccatcaagaatttgaatgtcaatatctttgccttgaaatga c.-1 . . . . | 02. . g.258260 ATGGAAAAGTATTTGTCACTCAGCGGCAATCATTCTTCAAATAAAAG | GTCACTGGAAGGA c.60 M E K Y L S L S G N H S S N K R | S L E G p.20 . . . . . . g.258320 CTGAGCGCATTCAGGAGCCTGGAGGAACTCATCTTGGACAACAATCAGCTGGGGGACGAC c.120 L S A F R S L E E L I L D N N Q L G D D p.40 . . . . . | 03 . g.269409 CTTGTGTTGCCAGGGTTACCCAGACTGCATACCTTAACCCTCAACAAGAACCGA | ATCACT c.180 L V L P G L P R L H T L T L N K N R | I T p.60 . . . . . . g.269469 GATTTGGAGAACCTGCTGGATCACTTGGCAGAAGTGACACCAGCTCTGGAGTACCTCAGT c.240 D L E N L L D H L A E V T P A L E Y L S p.80 . . . . . . g.269529 CTGCTGGGCAACGTGGCCTGTCCCAACGAGCTGGTCAGCTTGGAAAAGGATGAGGAAGAC c.300 L L G N V A C P N E L V S L E K D E E D p.100 . | 04 . . . . . g.280951 TACAAGAGATACAG | ATGCTTTGTTCTGTACAAGCTGCCCAACTTGAAATTTCTGGATGCC c.360 Y K R Y R | C F V L Y K L P N L K F L D A p.120 . . . . . . g.281011 CAGAAAGTAACCAGACAAGAACGAGAGGAGGCGTTGGTCAGAGGAGTCTTCATGAAGGTG c.420 Q K V T R Q E R E E A L V R G V F M K V p.140 . | 05 . . . . . g.546688 GTGAAGCCCAAG | GCTTCTAGTGAGGACGTTGCCAGCTCCCCGGAGCGCCACTACACGCCC c.480 V K P K | A S S E D V A S S P E R H Y T P p.160 . . . | 06. . . g.779471 TTGCCTTCTGCTTCCAGGGAACTCACCAGTCACCAAG | GTGTCCTGGGGAAGTGTCGCTAC c.540 L P S A S R E L T S H Q G | V L G K C R Y p.180 . . . . . g.779528 GTTTACTATGGGAAAAACTCAGAGGGCAACAGGTTTATCCGAGATGACCAGCTCTGA c.597 V Y Y G K N S E G N R F I R D D Q L X p.198 . . . . . . g.779588 agccaacttctgtataccttcacccatttcatgaaaataaaatcaaaagggaaatcaaaa c.*60 . . g.779612 ataaagaaaacgctaaagaaaaaa c.*84 (downstream sequence)Legend:
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