(used for variant description)
(last modified July 20, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_021133.3 in the RNASEL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009024.2, covering RNASEL transcript NM_021133.3.
(upstream sequence)
. g.2731
agtgacgcagcaggagg c.-241
. . . . . . g.2791
aaactgctcgggctgcaagcagtcttccaggctttgcggctgccaaaggaataattgaga c.-181
. . | 02 . . . . g.5047
cgtctgagttgagcag | gtggaatgtcagaagactgagaacattgttccttcttcatactg c.-121
. . . . . . g.5107
ctgctctgttgccagagaatcccaatttacactcaaagcttctttgattaagtgctagga c.-61
. . . . . . g.5167
gataaatttgcattttctcaaggaaaaggctaaaagtggtagcaggtggcatttaccgtc c.-1
. . . . . . g.5227
ATGGAGAGCAGGGATCATAACAACCCCCAGGAGGGACCCACGTCCTCCAGCGGTAGAAGG c.60
M E S R D H N N P Q E G P T S S S G R R p.20
. . . . . . g.5287
GCTGCAGTGGAAGACAATCACTTGCTGATTAAAGCTGTTCAAAACGAAGATGTTGACCTG c.120
A A V E D N H L L I K A V Q N E D V D L p.40
. . . . . . g.5347
GTCCAGCAATTGCTGGAAGGTGGAGCCAATGTTAATTTCCAGGAAGAGGAAGGGGGCTGG c.180
V Q Q L L E G G A N V N F Q E E E G G W p.60
. . . . . . g.5407
ACACCTCTGCATAACGCAGTACAAATGAGCAGGGAGGACATTGTGGAACTTCTGCTTCGT c.240
T P L H N A V Q M S R E D I V E L L L R p.80
. . . . . . g.5467
CATGGTGCTGACCCTGTTCTGAGGAAGAAGAATGGGGCCACGCCTTTTATCCTCGCAGCG c.300
H G A D P V L R K K N G A T P F I L A A p.100
. . . . . . g.5527
ATTGCGGGGAGCGTGAAGCTGCTGAAACTTTTCCTTTCTAAAGGAGCAGATGTCAATGAG c.360
I A G S V K L L K L F L S K G A D V N E p.120
. . . . . . g.5587
TGTGATTTTTATGGCTTCACAGCCTTCATGGAAGCCGCTGTGTATGGTAAGGTCAAAGCC c.420
C D F Y G F T A F M E A A V Y G K V K A p.140
. . . . . . g.5647
CTAAAATTCCTTTATAAGAGAGGAGCAAATGTGAATTTGAGGCGAAAGACAAAGGAGGAT c.480
L K F L Y K R G A N V N L R R K T K E D p.160
. . . . . . g.5707
CAAGAGCGGCTGAGGAAAGGAGGGGCCACAGCTCTCATGGACGCTGCTGAAAAAGGACAC c.540
Q E R L R K G G A T A L M D A A E K G H p.180
. . . . . . g.5767
GTAGAGGTCTTGAAGATTCTCCTTGATGAGATGGGGGCAGATGTAAACGCCTGTGACAAT c.600
V E V L K I L L D E M G A D V N A C D N p.200
. . . . . . g.5827
ATGGGCAGAAATGCCTTGATCCATGCTCTCCTGAGCTCTGACGATAGTGATGTGGAGGCT c.660
M G R N A L I H A L L S S D D S D V E A p.220
. . . . . . g.5887
ATTACGCATCTGCTGCTGGACCATGGGGCTGATGTCAATGTGAGGGGAGAAAGAGGGAAG c.720
I T H L L L D H G A D V N V R G E R G K p.240
. . . . . . g.5947
ACTCCCCTGATCCTGGCAGTGGAGAAGAAGCACTTGGGTTTGGTGCAGAGGCTTCTGGAG c.780
T P L I L A V E K K H L G L V Q R L L E p.260
. . . . . . g.6007
CAAGAGCACATAGAGATTAATGACACAGACAGTGATGGCAAAACAGCACTGCTGCTTGCT c.840
Q E H I E I N D T D S D G K T A L L L A p.280
. . . . . . g.6067
GTTGAACTCAAACTGAAGAAAATCGCCGAGTTGCTGTGCAAACGTGGAGCCAGTACAGAT c.900
V E L K L K K I A E L L C K R G A S T D p.300
. . . . . . g.6127
TGTGGGGATCTTGTTATGACAGCGAGGCGGAATTATGACCATTCCCTTGTGAAGGTTCTT c.960
C G D L V M T A R R N Y D H S L V K V L p.320
. . . . . . g.6187
CTCTCTCATGGAGCCAAAGAAGATTTTCACCCTCCTGCTGAAGACTGGAAGCCTCAGAGC c.1020
L S H G A K E D F H P P A E D W K P Q S p.340
. . . . . . g.6247
TCACACTGGGGGGCAGCCCTGAAGGATCTCCACAGAATATACCGCCCTATGATTGGCAAA c.1080
S H W G A A L K D L H R I Y R P M I G K p.360
. . . . . . g.6307
CTCAAGTTCTTTATTGATGAAAAATACAAAATTGCTGATACTTCAGAAGGAGGCATCTAC c.1140
L K F F I D E K Y K I A D T S E G G I Y p.380
. . . . . . g.6367
CTGGGGTTCTATGAGAAGCAAGAAGTAGCTGTGAAGACGTTCTGTGAGGGCAGCCCACGT c.1200
L G F Y E K Q E V A V K T F C E G S P R p.400
. . . . . . g.6427
GCACAGCGGGAAGTCTCTTGTCTGCAAAGCAGCCGAGAGAACAGTCACTTGGTGACATTC c.1260
A Q R E V S C L Q S S R E N S H L V T F p.420
. . . . . . g.6487
TATGGGAGTGAGAGCCACAGGGGCCACTTGTTTGTGTGTGTCACCCTCTGTGAGCAGACT c.1320
Y G S E S H R G H L F V C V T L C E Q T p.440
. . . . . . g.6547
CTGGAAGCGTGTTTGGATGTGCACAGAGGGGAAGATGTGGAAAATGAGGAAGATGAATTT c.1380
L E A C L D V H R G E D V E N E E D E F p.460
. . . . . . g.6607
GCCCGAAATGTCCTGTCATCTATATTTAAGGCTGTTCAAGAACTACACTTGTCCTGTGGA c.1440
A R N V L S S I F K A V Q E L H L S C G p.480
. . . . | 03 . . g.7827
TACACCCACCAGGATCTGCAACCACAAAACATCTTAATAG | ATTCTAAGAAAGCTGCTCAC c.1500
Y T H Q D L Q P Q N I L I D | S K K A A H p.500
. . . . . . g.7887
CTGGCAGATTTTGATAAGAGCATCAAGTGGGCTGGAGATCCACAGGAAGTCAAGAGAGAT c.1560
L A D F D K S I K W A G D P Q E V K R D p.520
| 04 . . . . . . g.9769
CTAGAG | GACCTTGGACGGCTGGTCCTCTATGTGGTAAAGAAGGGAAGCATCTCATTTGAG c.1620
L E | D L G R L V L Y V V K K G S I S F E p.540
. . . . . . g.9829
GATCTGAAAGCTCAAAGTAATGAAGAGGTGGTTCAACTTTCTCCAGATGAGGAAACTAAG c.1680
D L K A Q S N E E V V Q L S P D E E T K p.560
. . . . . . g.9889
GACCTCATTCATCGTCTCTTCCATCCTGGGGAACATGTGAGGGACTGTCTGAGTGACCTG c.1740
D L I H R L F H P G E H V R D C L S D L p.580
. . . | 05 . . . g.10644
CTGGGTCATCCCTTCTTTTGGACTTGGGAGAG | CCGCTATAGGACGCTTCGGAATGTGGGA c.1800
L G H P F F W T W E S | R Y R T L R N V G p.600
. . . . . . g.10704
AATGAATCCGACATCAAAACACGAAAATCTGAAAGTGAGATCCTCAGACTACTGCAACCT c.1860
N E S D I K T R K S E S E I L R L L Q P p.620
. . . . | 06 . . g.15599
GGGCCTTCTGAACATTCCAAAAGTTTTGACAAGTGGACGACTAAG | ATTAATGAATGTGTT c.1920
G P S E H S K S F D K W T T K | I N E C V p.640
. . . . . . g.15659
ATGAAAAAAATGAATAAGTTTTATGAAAAAAGAGGCAATTTCTACCAGAACACTGTGGGT c.1980
M K K M N K F Y E K R G N F Y Q N T V G p.660
. . . . . | 07 g.16396
GATCTGCTAAAGTTCATCCGGAATTTGGGAGAACACATTGATGAAGAAAAGCATAAAAA | G c.2040
D L L K F I R N L G E H I D E E K H K K | p.680
. . . . . . g.16456
ATGAAATTAAAAATTGGAGACCCTTCCCTGTATTTTCAGAAGACATTTCCAGATCTGGTG c.2100
M K L K I G D P S L Y F Q K T F P D L V p.700
. . . . . . g.16516
ATCTATGTCTACACAAAACTACAGAACACAGAATATAGAAAGCATTTCCCCCAAACCCAC c.2160
I Y V Y T K L Q N T E Y R K H F P Q T H p.720
. . . . . . g.16576
AGTCCAAACAAGCCTCAGTGTGATGGAGCTGGTGGGGCCAGTGGGTTGGCCAGCCCTGGG c.2220
S P N K P Q C D G A G G A S G L A S P G p.740
g.16582
TGCTGA c.2226
C X p.741
. . . . . . g.16642
tggactgatttgctggagttcagggaactacttattagctgtagagtccttggcaaatca c.*60
. . . . . . g.16702
caacattctgggccttttaactcaccaggttgcttgtgagggatgagttgcatagctgat c.*120
. . . . . . g.16762
atgtcagtccctggcatcgtgtattccatatgtctataacaaaagcaatatatacccaga c.*180
. . . . . . g.16822
ctacactagtccataagctttacccactaactgggaggacattctgctaagattcctttt c.*240
. . . . . . g.16882
gtcaattgcaccaaaagaatgagtgccttgacccctaatgctgcatatgttacaattctc c.*300
. . . . . . g.16942
tcacttaattttcccaatgatcttgcaaaacagggattatcatccccatttaagaactga c.*360
. . . . . . g.17002
ggaacctgagactcagagagtgtgagctactggcccaagattattcaatttatacctagc c.*420
. . . . . . g.17062
actttataaatttatgtggtgttattggtacctctcatttgggcaccttaaaacttaact c.*480
. . . . . . g.17122
atccttccagggctcttccagatgaggcccaaaacatatataggggttccaggaatctca c.*540
. . . . . . g.17182
ttcattcattcagtatttattgagcatctagtataagtctgggcactggatgcatgaatt c.*600
. . . . . . g.17242
ccactccttccagaaccaactgcattggttttccatgaccttaaggcagtagttctcaac c.*660
. . . . . . g.17302
tggggggcaattttgcactgaagagagcatttggcagagtctgaagaagtttttggtgtc c.*720
. . . . . . g.17362
acagctttgtggggagcatgctatggcatttagtgggtaaagaccagggatgctgccaaa c.*780
. . . . . . g.17422
cctgccttgcacaggacagcccctgcaacaaagaattatccagacaaaaatatcaatggt c.*840
. . . . . . g.17482
gctgaggttgagaaaacctgacttaaggggctgggatgcttttgaactagcttaaggccc c.*900
. . . . . . g.17542
aggactgtggagtgtgtggaccaccccacagaggagggactcagatttatttactcttgc c.*960
. . . . . . g.17602
tggatctgtagtgatggagttccttctggtgtcagccccacaggaggctcccaggcctcc c.*1020
. . . . . . g.17662
ctcacttcccatacccagtctaggagctccttctggctcccaagcacccagagctttcct c.*1080
. . . . . . g.17722
ccgccttttagttttggttcctccactggaatgtaggctcctcacgggcgatggctgtct c.*1140
. . . . . . g.17782
tttcttgactttgtatcttcactgccaagcaaaaagtctgccaagtgggaatgtttaata c.*1200
. . . . . . g.17842
aatattcattgaataatgaatgaaccatcttcgtacatgaataataatactgtcttacgt c.*1260
. . . . . . g.17902
ttttctggtgctttataatgtatacattacatctgagtattttattttatttaattttca c.*1320
. . . . . . g.17962
aaacaatcctttaaggtcaacattgttatccttattttgctgatgaggaaactaaggtta c.*1380
. . . . . . g.18022
gaaacattttgatttcctctaggacgtatagctaggaagtgttactatcttgatttgaac c.*1440
. . . . . . g.18082
aaattttctggtgctaagtctgatgttctttccatgaatcattgtggtggttgagatgga c.*1500
. . . . . . g.18142
gctttgtaatgggaataaaacagtaccttaggttctttctgaaaaggaggtatctagcaa c.*1560
. . . . . . g.18202
tggataaatagataccactgaatgaaattaaatgttgattaggaacaaatttaaggctta c.*1620
. . . . . . g.18262
aaaaatactttatgagcagcaagattgctttaacttttaaaatgaagctttggttctctg c.*1680
. . . . . . g.18322
atttgtaatgagcacctggatatgtcaattaaaatgcccatttgtgaagcttactcaata c.*1740
. g.18340
aaactttaaattgtctta c.*1758
(downstream sequence)
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