(used for variant description)
(last modified June 27, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_004750.4 in the CRLF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013370.1, covering CRLF1 transcript NM_004750.4.(upstream sequence) . g.5014 ggggccgggcgggg c.-181 . . . . . . g.5074 ccagcggcgcattagcgccttgtcaattcggctgctcagacttgctccggcctccgcgtc c.-121 . . . . . . g.5134 cgcgcccagcgacgtgcgggcggcctggcccgcgccctcccgcgcccggcctgcgtcccg c.-61 . . . . . . g.5194 cgccctgcgccaccgccgccgagccgcagcccgccgcgcgcccccggcagcgccggcccc c.-1 . . . . . . g.5254 ATGCCCGCCGGCCGCCGGGGCCCCGCCGCCCAATCCGCGCGGCGGCCGCCGCCGTTGCTG c.60 M P A G R R G P A A Q S A R R P P P L L p.20 . . . . . | 02 . g.12009 CCCCTGCTGCTGCTGCTCTGCGTCCTCGGGGCGCCGCGAGCCGGATCAGGAGCCC | ACACA c.120 P L L L L L C V L G A P R A G S G A H | T p.40 . . . . . . g.12069 GCTGTGATCAGTCCCCAGGATCCCACGCTTCTCATCGGCTCCTCCCTGCTGGCCACCTGC c.180 A V I S P Q D P T L L I G S S L L A T C p.60 . . . . . . g.12129 TCAGTGCACGGAGACCCACCAGGAGCCACCGCCGAGGGCCTCTACTGGACCCTCAACGGG c.240 S V H G D P P G A T A E G L Y W T L N G p.80 . . . . . . g.12189 CGCCGCCTGCCCCCTGAGCTCTCCCGTGTACTCAACGCCTCCACCTTGGCTCTGGCCCTG c.300 R R L P P E L S R V L N A S T L A L A L p.100 . . . . . . g.12249 GCCAACCTCAATGGGTCCAGGCAGCGGTCGGGGGACAACCTCGTGTGCCACGCCCGTGAC c.360 A N L N G S R Q R S G D N L V C H A R D p.120 . . . | 03. . . g.12972 GGCAGCATCCTGGCTGGCTCCTGCCTCTATGTTGGCC | TGCCCCCAGAGAAACCCGTCAAC c.420 G S I L A G S C L Y V G L | P P E K P V N p.140 . . . . . . g.13032 ATCAGCTGCTGGTCCAAGAACATGAAGGACTTGACCTGCCGCTGGACGCCAGGGGCCCAC c.480 I S C W S K N M K D L T C R W T P G A H p.160 . . . . | 04. . g.13262 GGGGAGACCTTCCTCCACACCAACTACTCCCTCAAGTACAAGCTTAG | GTGGTATGGCCAG c.540 G E T F L H T N Y S L K Y K L R | W Y G Q p.180 . . . . . . g.13322 GACAACACATGTGAGGAGTACCACACAGTGGGGCCCCACTCCTGCCACATCCCCAAGGAC c.600 D N T C E E Y H T V G P H S C H I P K D p.200 . . . . . . g.13382 CTGGCTCTCTTTACGCCCTATGAGATCTGGGTGGAGGCCACCAACCGCCTGGGCTCTGCC c.660 L A L F T P Y E I W V E A T N R L G S A p.220 . . . | 05. . . g.14824 CGCTCCGATGTACTCACGCTGGATATCCTGGATGTGG | TGACCACGGACCCCCCGCCCGAC c.720 R S D V L T L D I L D V V | T T D P P P D p.240 . . . . . . g.14884 GTGCACGTGAGCCGCGTCGGGGGCCTGGAGGACCAGCTGAGCGTGCGCTGGGTGTCGCCA c.780 V H V S R V G G L E D Q L S V R W V S P p.260 . . . . . . g.14944 CCCGCCCTCAAGGATTTCCTCTTTCAAGCCAAATACCAGATCCGCTACCGAGTGGAGGAC c.840 P A L K D F L F Q A K Y Q I R Y R V E D p.280 . | 06 . . . . . g.15105 AGTGTGGACTGGAAG | GTGGTGGACGATGTGAGCAACCAGACCTCCTGCCGCCTGGCCGGC c.900 S V D W K | V V D D V S N Q T S C R L A G p.300 . . . . . . g.15165 CTGAAACCCGGCACCGTGTACTTCGTGCAAGTGCGCTGCAACCCCTTTGGCATCTATGGC c.960 L K P G T V Y F V Q V R C N P F G I Y G p.320 . . . . . . g.15225 TCCAAGAAAGCCGGGATCTGGAGTGAGTGGAGCCACCCCACAGCCGCCTCCACTCCCCGC c.1020 S K K A G I W S E W S H P T A A S T P R p.340 | 07 . . . . . . g.17472 AGTG | AGCGCCCGGGCCCGGGCGGCGGGGCGTGCGAACCGCGGGGCGGAGAGCCGAGCTCG c.1080 S E | R P G P G G G A C E P R G G E P S S p.360 . . . . . . g.17532 GGGCCGGTGCGGCGCGAGCTCAAGCAGTTCCTGGGCTGGCTCAAGAAGCACGCGTACTGC c.1140 G P V R R E L K Q F L G W L K K H A Y C p.380 . . . . . . g.17592 TCCAACCTCAGCTTCCGCCTCTACGACCAGTGGCGAGCCTGGATGCAGAAGTCGCACAAG c.1200 S N L S F R L Y D Q W R A W M Q K S H K p.400 . | 08 . . . . | 09 . g.18276 ACCCGCAACCAG | GACGAGGGGATCCTGCCCTCGGGCAGACGGGGCACGGCGAGAG | GTCCT c.1260 T R N Q | D E G I L P S G R R G T A R G | P p.420 g.18285 GCCAGATAA c.1269 A R X p.422 . . . . . . g.18345 gctgtaggggctcaggccaccctccctgccacgtggagacgcagaggccgaacccaaact c.*60 . . . . . . g.18405 ggggccacctctgtaccctcacttcagggcacctgagccaccctcagcaggagctggggt c.*120 . . . . . . g.18465 ggcccctgagctccaacggccataacagctctgactcccacgtgaggccacctttgggtg c.*180 . . . . . . g.18525 caccccagtgggtgtgtgtgtgtgtgtgagggttggttgagttgcctagaacccctgcca c.*240 . . . . . . g.18585 gggctgggggtgagaaggggagtcattactccccattacctagggcccctccaaaagagt c.*300 . . . . g.18626 ccttttaaataaatgagctatttaggtgctgtgattgtgaa c.*341 (downstream sequence)Legend:
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