(used for variant description)
(last modified May 29, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_015722.3 in the CALY gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering CALY transcript NM_015722.3.(upstream sequence) . . . g.5038 cgaccacagcctcggtctcgcagctgcagcccccgccc c.-121 . . . . . . g.5098 cgcccggccgcgaagcgtctggaaccgcatcctccgcatccacatccgcatcgtcgtcct c.-61 . . . . | 02 . g.12982 ccccgaccgcgtcctgcagcagctgccagtggagccgcct | gacaaggactgccatccacc c.-1 . . . . . . g.13042 ATGGTGAAGCTGGGCTGCAGCTTCTCTGGGAAGCCAGGTAAAGACCCTGGGGACCAGGAT c.60 M V K L G C S F S G K P G K D P G D Q D p.20 . . . . . . g.13102 GGGGCTGCCATGGACAGTGTGCCTCTGATCAGCCCCTTGGACATCAGCCAGCTCCAGCCG c.120 G A A M D S V P L I S P L D I S Q L Q P p.40 . | 03 . . . . . g.14001 CCACTCCCTGACCAG | GTGGTCATCAAGACACAGACAGAATACCAGCTGTCCTCCCCAGAC c.180 P L P D Q | V V I K T Q T E Y Q L S S P D p.60 . . . . . . g.14061 CAGCAGAATTTCCCTGACCTGGAGGGCCAGAGGCTGAACTGCAGCCACCCAGAGGAAGGG c.240 Q Q N F P D L E G Q R L N C S H P E E G p.80 | 04 . . . . . . g.15034 CGCAGG | CTGCCCACCGCACGGATGATCGCCTTCGCCATGGCGCTACTGGGCTGCGTGCTG c.300 R R | L P T A R M I A F A M A L L G C V L p.100 . . . . . . g.15094 ATCATGTACAAGGCCATCTGGTACGACCAGTTCACCTGCCCCGACGGCTTCCTGCTGCGG c.360 I M Y K A I W Y D Q F T C P D G F L L R p.120 | 05 . . . . . . g.15911 | CACAAGATCTGCACGCCGCTGACCCTGGAGATGTACTACACGGAGATGGACCCCGAGCGC c.420 | H K I C T P L T L E M Y Y T E M D P E R p.140 . . . . . . g.15971 CACCGCAGCATCCTGGCGGCCATCGGGGCCTACCCGCTGAGCCGCAAGCACGGCACGGAG c.480 H R S I L A A I G A Y P L S R K H G T E p.160 . . . . . . g.16031 ACGCCGGCGGCCTGGGGGGACGGCTACCGCGCAGCCAAGGAGGAGCGCAAGGGGCCCACC c.540 T P A A W G D G Y R A A K E E R K G P T p.180 . . . . . . g.16091 CAGGCTGGGGCGGCGGCGGCGGCCACCGAACCCCCCGGGAAGCCGTCGGCCAAGGCGGAG c.600 Q A G A A A A A T E P P G K P S A K A E p.200 . . . . . g.16145 AAGGAGGCGGCGCGGAAGGCGGCCGGGAGCGCGGCGCCCCCGCCCGCGCAGTGA c.654 K E A A R K A A G S A A P P P A Q X p.217 . . | 06 . . . g.16437 cgtctccagccccgcagcccggcccggg | cgtcctccgccagctcctgtgaccagcgcgtc c.*60 . . . . . . g.16497 tcccgatgctctccgccgtgttcgtgtccccaggcgccctcgctgcagccccgcccccgt c.*120 . . . . . g.16548 gggtctctgactctgtcgcttttctctaagtaaagatttcacgtccaccgg c.*171 (downstream sequence)Legend:
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