(used for variant description)
(last modified June 14, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_178842.3 in the CERS3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_042826.1, covering CERS3 transcript NM_178842.3.
(upstream sequence)
g.5004
cggg c.-421
. . . . . . g.5064
atgcaccgctgcggggaccccccgcccggcctcgcggacccgcctcggcccaggacggag c.-361
. | 02 . . . . . g.20699
gaggag | gtggtgaaacaggaagcaacatcccatcaggaagaacctgagggtgccatccag c.-301
. . . . . . g.20759
tagcttcgcctcacgtcactgactgccctcagtcagaaatcttgactcgcaactttggag c.-241
. . . . . . g.20819
ggtgggtctctgaaggaatttcaggtcttacacagagatgagttgtgctgctctctgagg c.-181
. . . . . . g.20879
agaacgaagctggttggaacgttggaagctgctctctgactacacttcacaagcaagggg c.-121
. . . | 03 . . g.27995
caccttttgtggactgacatttcagaaag | ggatgttgtgaaacaaaagctgacatttata c.-61
. . . . . . | 04 g.47871
tatatatacatatatacagtatttgagttcctcagtagaaagctatcatatatactcag | a c.-1
. . . . . . g.47931
ATGTTTTGGACGTTTAAAGAATGGTTCTGGTTGGAAAGATTCTGGCTTCCTCCAACAATA c.60
M F W T F K E W F W L E R F W L P P T I p.20
. . . . . . g.47991
AAGTGGTCAGATCTTGAGGATCACGATGGACTCGTCTTTGTAAAACCTTCTCATTTATAC c.120
K W S D L E D H D G L V F V K P S H L Y p.40
. . . . . | 05 . g.58796
GTGACAATTCCATATGCTTTTCTCTTGCTGATTATCAGACGTGTATTTGAAAA | ATTTGTT c.180
V T I P Y A F L L L I I R R V F E K | F V p.60
. . . . . . g.58856
GCTTCACCTCTAGCAAAATCATTTGGCATTAAAGAGACAGTTCGAAAGGTTACACCAAAT c.240
A S P L A K S F G I K E T V R K V T P N p.80
. . . . | 06 . g.65064
ACTGTCTTAGAGAATTTTTTCAAACATTCCACAAGGCAACCATTGCAA | ACTGATATTTAT c.300
T V L E N F F K H S T R Q P L Q | T D I Y p.100
. . . . . . g.65124
GGACTGGCAAAGAAGTGTAACTTGACGGAGCGCCAGGTGGAAAGATGGTTTAGGAGTCGG c.360
G L A K K C N L T E R Q V E R W F R S R p.120
. . . . | 07. . g.69687
CGGAATCAAGAGAGGCCTTCCAGGCTGAAGAAATTCCAGGAAGCTTG | CTGGAGATTTGCA c.420
R N Q E R P S R L K K F Q E A C | W R F A p.140
. . . . | 08 . . g.70257
TTTTACTTAATGATCACTGTTGCTGGAATTGCGTTTCTTTATGAT | AAACCTTGGCTATAT c.480
F Y L M I T V A G I A F L Y D | K P W L Y p.160
. . . | 09 . . . g.73566
GACTTATGGGAGGTTTGGAATGGCTATCCCAAACAG | CCCCTGCTGCCATCCCAGTACTGG c.540
D L W E V W N G Y P K Q | P L L P S Q Y W p.180
. . . . . . g.73626
TACTACATTTTAGAAATGAGTTTTTATTGGTCTCTGTTATTTAGACTTGGCTTTGATGTC c.600
Y Y I L E M S F Y W S L L F R L G F D V p.200
| 10 . . . . . g.76719
AAGAGAAAG | GATTTTCTAGCTCATATCATCCACCACCTGGCTGCTATTAGTCTGATGAGC c.660
K R K | D F L A H I I H H L A A I S L M S p.220
. . . . . . g.76779
TTCTCTTGGTGTGCTAATTATATTCGCAGTGGGACCCTCGTGATGATTGTACACGATGTG c.720
F S W C A N Y I R S G T L V M I V H D V p.240
. | 11 . . . . g.80278
GCTGACATTTGGCTGGAG | TCTGCTAAGATGTTTTCTTATGCTGGATGGACGCAGACCTGT c.780
A D I W L E | S A K M F S Y A G W T Q T C p.260
. . . . . . g.80338
AACACCCTGTTTTTCATCTTCTCCACCATATTTTTCATCAGCCGCCTCATTGTTTTTCCT c.840
N T L F F I F S T I F F I S R L I V F P p.280
| 12 . . . . . . g.93729
TTCTG | GATTTTATATTGCACGCTGATCTTGCCTATGTATCACCTCGAGCCTTTCTTTTCA c.900
F W | I L Y C T L I L P M Y H L E P F F S p.300
. . . . . . g.93789
TACATCTTCCTCAACCTACAGCTCATGATCTTGCAGGTCCTTCACCTTTACTGGGGTTAT c.960
Y I F L N L Q L M I L Q V L H L Y W G Y p.320
. . . | 13 . . g.146876
TACATCTTGAAGATGCTCAACAGATGTATATTCATGAAG | AGCATCCAGGATGTGAGGAGT c.1020
Y I L K M L N R C I F M K | S I Q D V R S p.340
. . . . . . g.146936
GATGACGAGGATTATGAAGAGGAAGAGGAAGAGGAAGAAGAAGAGGCTACCAAAGGCAAA c.1080
D D E D Y E E E E E E E E E E A T K G K p.360
. . . . . . g.146996
GAGATGGATTGTTTAAAGAACGGCCTCAGGGCTGAGAGGCACCTCATTCCCAATGGCCAG c.1140
E M D C L K N G L R A E R H L I P N G Q p.380
. g.147008
CATGGCCATTAG c.1152
H G H X p.383
. . . . . . g.147068
ctggaagcctacaggactcccatggcacagcatgctgcaagtactgttggcagcctggct c.*60
. . . . . . g.147128
tccaggccccacaccgaccccacattctgcccttccctctttctcaccaccgccttccct c.*120
. . . . . . g.147188
cccacctaagatgtgtttaccaaaatgttgttaacttgtgttaaaatgttaaatataagc c.*180
. . . . . . g.147248
atgcccatggatttttactgcagttaggactcagactggtcaaagatttcaaagatttct c.*240
. . . . . . g.147308
ccacagaaccgtctcagttctaattgcactccctcatgcatgtcactttctcaggggctc c.*300
. . . . . . g.147368
gctttgttatagaccctttcgcctcgccaccttgcctgtcctcaggacgctttcacaggt c.*360
. . . . . . g.147428
gctaagtgatctcatttttcccaggtgtgtttggccacaaagagcagcttctttctcaaa c.*420
. . . . . . g.147488
atgagttagaagtggcagtgggacaggagcggaaggaccacaccaggagacacttccatc c.*480
. . . . . . g.147548
ctgaagcttaggtgcctcatctccacagggcggtggcagtccctgcctgccaccccacag c.*540
. . . . . . g.147608
ggttacagcaaggattaagtgagatcacagaagtttaagtacacactgtcaaccgtgggg c.*600
. . . . . . g.147668
tcatcgtgaaccaacccactttgcactgtttgggagacagaaacctggctaaacatggca c.*660
. . . . . . g.147728
ctgcaatgggcctgaacaaaaggcagaatctttaaaaattcctcttaaatgactctggag c.*720
. . . . . . g.147788
atacctggaaatgaaagtgccaagaaaggtgttccattttatttgctaactatttatgca c.*780
. . . . . . g.147848
ttagctccccaagggtcattctcagattctcctggaattcttctccctcaggacccatgg c.*840
. . . . . . g.147908
ttcaaggaaggaagcttaggccctgttccttcctgtcctttgctggtctttccctttttt c.*900
. . . . . . g.147968
cctttctaggagggaagcttctgtgctgctgccctgagcccttccttcaggccagcacag c.*960
. . . . . . g.148028
tacctggggacctccacgggggaatgggatccaggccaggttgcttgctgagcctcatca c.*1020
. . . . . . g.148088
cccaggaggcctgagcctctggggagggcacgcatgtacactgccagacccaggggagat c.*1080
. . . . . . g.148148
cttgggaacagaggatgctacgtgatttcctctggcttccaacccaatcagcctgcatca c.*1140
. . . . . . g.148208
cagtgaaacacaacacaaaaggccataaaaggcatacccctgagaaatgtttaagggcag c.*1200
. . . . . . g.148268
gtgctagagtcagtgccagctccctgggaggagggatagggacgggcagatcagtagcca c.*1260
. . . . . . g.148328
gcttgtcctcaccctccggaagggagcaccggagaagacttgcacacgtccctgcctccc c.*1320
. . . . . . g.148388
ttgcggccttgtcaccagagggacacatctcctgggcacaatgtgcagggctgacctggg c.*1380
. . . . . . g.148448
agacttctcaggtggctgctggctgaggagaggccaggccttcccaaggaagaccctgag c.*1440
. . . . . . g.148508
taaaatctgcatctgtcctcaccacctggcacagtctctcataacggtcagattttgtat c.*1500
. . . . . . g.148568
gttcatcctatttattcaggggctcgtactagaaagccacaggagaggtcggcttgtagg c.*1560
. . . . . . g.148628
gactggaaaatcagccccaagcagagcagctgcagggcccctggagccggaaggacactg c.*1620
. . . . . . g.148688
cacagaacagactgcgttattgttatttttaaataaaaatatacatttgaaaccttaagg c.*1680
. . . . . . g.148748
ctaaacaaaaataaacaaaaaatcctttagaattctttccacaacaatatctctttctga c.*1740
. . . . . . g.148808
gaaattgttacaaacaaggtcagattttctctgtataacatttgcttttatgaggacaat c.*1800
. . . . . . g.148868
atcatatgcattatatgcataatatgatattataaatcaaaatgcctgcacccactttag c.*1860
. . . . . . g.148928
ggtatagctattgacttattattaatattatattattattattttgctggaagaaggtca c.*1920
. . . . . . g.148988
cactaagatataattttttatgttttcagttaacggtatgctttcttctttgcttatttg c.*1980
. . . . . . g.149048
gtttttgtctctgtaccaaatatcttcttgcttaaggtagaaaagtatttgtttacctct c.*2040
. . . . . . g.149108
atctccagttttttttcttatttgaatgttgaaggtaaaattgatataccaattttaact c.*2100
. . . . . . g.149168
atttctgatacagctgaaagcactaaactacttcataagaagtagatactcatttttgta c.*2160
. . . . . . g.149228
acactatttagggcttttgtggttaattttaaaggaaaccactctttctacaggaaacaa c.*2220
. . . . . . g.149288
gggctcaggattcttcagatgaccttataaaaatgcagtccacagtgctatcaatattgt c.*2280
. . . g.149326
aacagtaatgactacaataaagccaaaagtccagtgta c.*2318
(downstream sequence)
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