(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)
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