(used for variant description)
(last modified March 21, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_005869.2 in the CWC27 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering CWC27 transcript NM_005869.2.
(upstream sequence)
. . . g.5039
ttagcggtgctcgggtccggtaacaacatggcggcgtcc c.-181
. . . . . . g.5099
gtgaggggctcctttgggcaggggtagtgtttggtgtccctgtcttgcgtgatattgaca c.-121
. . . . . . g.5159
aactgaagctttcctgcaccactggacttaaggaagagtgtactcgtaggcggacagctt c.-61
. . . . . . g.5219
tagtggccggccggccgctctcatcccccgtaaggagcagagtcctttgtactgaccaag c.-1
. . . . | 02 . . g.10781
ATGAGCAACATCTACATCCAGGAGCCTCCCACGAATGGGAAG | GTTTTATTGAAAACTACA c.60
M S N I Y I Q E P P T N G K | V L L K T T p.20
. . . . . . g.10841
GCTGGAGATATTGACATAGAGTTGTGGTCCAAAGAAGCTCCTAAAGCTTGCAGAAATTTT c.120
A G D I D I E L W S K E A P K A C R N F p.40
. | 03 . . . . g.18034
ATCCAACTTTGTTTGGAAG | CTTATTATGACAATACCATTTTTCATAGAGTTGTGCCTGGT c.180
I Q L C L E A | Y Y D N T I F H R V V P G p.60
. . . . . . g.18094
TTCATAGTCCAAGGCGGAGATCCTACTGGCACAGGGAGTGGTGGAGAGTCTATCTATGGA c.240
F I V Q G G D P T G T G S G G E S I Y G p.80
. | 04 . . . . . g.19956
GCGCCATTCAAA | GATGAATTTCATTCACGGTTGCGTTTTAATCGGAGAGGACTGGTTGCC c.300
A P F K | D E F H S R L R F N R R G L V A p.100
. . . . . . g.20016
ATGGCAAATGCTGGTTCTCATGATAATGGCAGCCAGTTTTTCTTCACACTGGGTCGAGCA c.360
M A N A G S H D N G S Q F F F T L G R A p.120
. . . | 05 . . . g.21577
GATGAACTTAACAATAAGCATACCATCTTTGGAAAG | GTTACAGGGGATACAGTATATAAC c.420
D E L N N K H T I F G K | V T G D T V Y N p.140
. . . . . . g.21637
ATGTTGCGACTGTCAGAAGTAGACATTGATGATGACGAAAGACCACATAATCCACACAAA c.480
M L R L S E V D I D D D E R P H N P H K p.160
. | 06 . . . . . g.22641
ATAAAAAGCTGTGAG | GTTTTGTTTAATCCTTTTGATGACATCATTCCAAGGGAAATTAAA c.540
I K S C E | V L F N P F D D I I P R E I K p.180
. . . . . | 07 g.25024
AGGCTGAAAAAAGAGAAACCAGAGGAGGAAGTAAAGAAATTGAAACCCAAAGGCACAAA | A c.600
R L K K E K P E E E V K K L K P K G T K | p.200
. . . . . . g.25084
AATTTTAGTTTACTTTCATTTGGAGAGGAAGCTGAGGAAGAAGAGGAGGAAGTAAATCGA c.660
N F S L L S F G E E A E E E E E E V N R p.220
| 08 . . . . . g.36371
GTTAGTCAG | AGCATGAAGGGCAAAAGCAAAAGTAGTCATGACTTGCTTAAGGATGATCCA c.720
V S Q | S M K G K S K S S H D L L K D D P p.240
. . | 09 . . . g.37405
CATCTCAGTTCTGTTCCAGTTGTAGAAAG | TGAAAAAGGTGATGCACCAGATTTAGTTGAT c.780
H L S S V P V V E S | E K G D A P D L V D p.260
| 10 . . . . . . g.40361
| GATGGAGAAGATGAAAGTGCAGAGCATGATGAATATATTGATGGTGATGAAAAGAACCTG c.840
| D G E D E S A E H D E Y I D G D E K N L p.280
. . . . . . g.40421
ATGAGAGAAAGAATTGCCAAAAAATTAAAAAAGGACACAAGTGCGAATGTTAAATCAGCT c.900
M R E R I A K K L K K D T S A N V K S A p.300
. . . | 11 . . g.121537
GGAGAAGGAGAAGTGGAGAAGAAATCAGTCAGCCGCAG | TGAAGAGCTCAGAAAAGAAGCA c.960
G E G E V E K K S V S R S | E E L R K E A p.320
. . . . . . g.121597
AGACAATTAAAACGGGAACTCTTAGCAGCAAAACAAAAAAAAGTAGAAAATGCAGCAAAA c.1020
R Q L K R E L L A A K Q K K V E N A A K p.340
. . | 12 . . . . g.207813
CAAGCAGAAAAAAGAAGTGAAG | AGGAAGAAGCCCCTCCAGATGGTGCTGTTGCCGAATAC c.1080
Q A E K R S E E | E E A P P D G A V A E Y p.360
. . . . . . g.207873
AGAAGAGAAAAGCAAAAGTATGAAGCTTTGAGGAAGCAACAGTCAAAGAAGGGAACTTCC c.1140
R R E K Q K Y E A L R K Q Q S K K G T S p.380
. | 13 . . . . . g.213255
CGGGAAGATCAG | ACCCTTGCACTGCTGAACCAGTTTAAATCTAAACTCACTCAAGCAATT c.1200
R E D Q | T L A L L N Q F K S K L T Q A I p.400
. . . . . | 14 . g.254235
GCTGAAACGCCTGAAAATGACATTCCTGAAACAGAAGTAGAAGATGATGAAGGATG | GATG c.1260
A E T P E N D I P E T E V E D D E G W | M p.420
. . . . . . g.254295
TCACATGTACTTCAGTTTGAGGATAAAAGCAGAAAAGTGAAAGATGCAAGCATGCAAGAC c.1320
S H V L Q F E D K S R K V K D A S M Q D p.440
. . . . . . g.254355
TCAGATACATTTGAAATCTATGATCCTCGGAATCCAGTGAATAAAAGAAGGAGGGAAGAA c.1380
S D T F E I Y D P R N P V N K R R R E E p.460
. . . g.254394
AGCAAAAAGCTGATGAGAGAGAAAAAAGAAAGAAGATAA c.1419
S K K L M R E K K E R R X p.472
. . . . . . g.254454
aatgagaataatgataaccagaacttgctggaaatgtgcctacaatggccttgtaacagc c.*60
. . . . . . g.254514
cattgttcccaacagcatcacttaggggtgtgaaaagaagtatttttgaacctgttgtct c.*120
. . . . . . g.254574
ggttttgaaaaacaattatcttgttttgcaaattgtggaatgatgtaagcaaatgctttt c.*180
. . . . . . g.254634
ggttactggtacatgtgttttttcctagctgaccttttatattgctaaatctgaaataaa c.*240
. . . . . . g.254694
ataactttccttccacattacatgttaaccattgcagactgcaagcctgtttgtgtcctt c.*300
. . . . . . g.254754
ttaccctaaaatatatgaaggcttccttttcaagatttttttataagaagttcctacaga c.*360
. . . . . . g.254814
aagaatatttgtgggaaacctccctttcactaacttcagaatataataaaatattataaa c.*420
. . g.254836
taaaatatagaatataaatatg c.*442
(downstream sequence)
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