(used for variant description)
(last modified December 22, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_031844.2 in the HNRNPU gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_042184.1, covering HNRNPU transcript NM_031844.2.
(upstream sequence)
. . . g.5038
ctcgcgccaggcgagtctccgcgtctccctcgcgaact c.-181
. . . . . . g.5098
cggtgaaaggaattggcgccgttcgacaccaggcggatccgctctgcagcacgaacccat c.-121
. . . . . . g.5158
ctccagccgcagccgcagccgccgcccgggccgaggagcagccgcagcagccgccaccag c.-61
. . . . . . g.5218
tggccgagtgagcggagccgagtttgaggcagcgcctagcggtgaatcggggccctcacc c.-1
. . . . . . g.5278
ATGAGTTCCTCGCCTGTTAATGTAAAAAAGCTGAAGGTGTCGGAGCTGAAAGAGGAGCTC c.60
M S S S P V N V K K L K V S E L K E E L p.20
. . . . . . g.5338
AAGAAGCGACGCCTTTCTGACAAGGGTCTCAAGGCCGAGCTCATGGAGCGACTCCAGGCT c.120
K K R R L S D K G L K A E L M E R L Q A p.40
. . . . . . g.5398
GCGCTGGACGACGAGGAGGCCGGGGGCCGCCCCGCCATGGAGCCCGGGAACGGCAGCCTA c.180
A L D D E E A G G R P A M E P G N G S L p.60
. . . . . . g.5458
GACCTGGGCGGGGATTCCGCTGGGCGCTCGGGAGCAGGCCTCGAGCAGGAGGCCGCGGCC c.240
D L G G D S A G R S G A G L E Q E A A A p.80
. . . . . . g.5518
GGCGGCGATGAAGAGGAGGAGGAAGAGGAAGAGGAGGAGGAAGGAATCTCCGCTCTGGAC c.300
G G D E E E E E E E E E E E G I S A L D p.100
. . . . . . g.5578
GGCGACCAGATGGAGCTAGGAGAGGAGAACGGGGCCGCGGGGGCGGCCGACTCGGGCCCG c.360
G D Q M E L G E E N G A A G A A D S G P p.120
. . . . . . g.5638
ATGGAGGAGGAGGAGGCCGCCTCGGAAGACGAGAACGGCGACGATCAGGGTTTCCAGGAA c.420
M E E E E A A S E D E N G D D Q G F Q E p.140
. . . . . . g.5698
GGGGAAGATGAGCTCGGGGACGAAGAGGAAGGCGCGGGCGACGAGAACGGGCACGGGGAG c.480
G E D E L G D E E E G A G D E N G H G E p.160
. . . . . . g.5758
CAGCAGCCTCAACCGCCGGCGACGCAGCAGCAACAGCCCCAACAGCAGCGCGGGGCCGCC c.540
Q Q P Q P P A T Q Q Q Q P Q Q Q R G A A p.180
. . . . . . g.5818
AAGGAGGCCGCGGGGAAGAGCAGCGGCCCCACCTCGCTGTTCGCGGTGACGGTGGCGCCG c.600
K E A A G K S S G P T S L F A V T V A P p.200
. . . . . . g.5878
CCCGGGGCGAGGCAGGGCCAGCAGCAGGCGGGAGGTAAGAAGAAGGCGGAAGGCGGCGGA c.660
P G A R Q G Q Q Q A G G K K K A E G G G p.220
. . . | 02 . . . g.6824
GGCGGCGGTCGCCCCGGGGCTCCGGCGGCGG | GGGACGGCAAAACAGAACAGAAAGGCGGA c.720
G G G R P G A P A A G | D G K T E Q K G G p.240
. . . . . . g.6884
GATAAAAAGAGGGGTGTTAAAAGACCACGAGAAGATCATGGCCGTGGATATTTTGAGTAC c.780
D K K R G V K R P R E D H G R G Y F E Y p.260
. . | 03 . . . . g.7028
ATTGAAGAGAACAAGTATAGCAG | AGCCAAATCTCCTCAGCCACCTGTTGAAGAAGAAGAT c.840
I E E N K Y S R | A K S P Q P P V E E E D p.280
. . . | 04. . . g.9074
GAACACTTCGATGACACAGTGGTTTGTCTTGATACTT | ATAATTGTGATCTACATTTTAAA c.900
E H F D D T V V C L D T Y | N C D L H F K p.300
. . . . . . g.9134
ATATCAAGAGATCGTCTCAGTGCTTCTTCCCTTACAATGGAGAGTTTTGCTTTTCTTTGG c.960
I S R D R L S A S S L T M E S F A F L W p.320
. . . . . | 05. g.10154
GCTGGAGGAAGAGCATCCTATGGTGTGTCAAAAGGCAAAGTGTGTTTTGAGATGAAG | GTT c.1020
A G G R A S Y G V S K G K V C F E M K | V p.340
. . . . . . g.10214
ACAGAGAAGATCCCAGTAAGGCATTTATATACAAAAGATATTGACATACATGAAGTTCGT c.1080
T E K I P V R H L Y T K D I D I H E V R p.360
. . . | 06. . . g.10707
ATTGGCTGGTCACTAACTACAAGTGGAATGTTACTTG | GTGAAGAAGAATTTTCTTATGGG c.1140
I G W S L T T S G M L L G | E E E F S Y G p.380
. . . . . . g.10767
TATTCTCTAAAAGGAATAAAAACATGCAACTGTGAGACTGAAGATTATGGAGAAAAGTTT c.1200
Y S L K G I K T C N C E T E D Y G E K F p.400
. . . | 07 . . . g.11281
GATGAAAATGATGTGATTACATGTTTTGCT | AACTTTGAAAGTGATGAAGTAGAACTCTCG c.1260
D E N D V I T C F A | N F E S D E V E L S p.420
. . . . . . g.11341
TATGCTAAGAATGGACAAGATCTTGGCGTTGCCTTCAAAATCAGTAAGGAAGTTCTTGCT c.1320
Y A K N G Q D L G V A F K I S K E V L A p.440
. . . . . . g.11401
GGACGGCCACTGTTCCCGCATGTTCTCTGCCACAACTGTGCAGTTGAATTTAATTTTGGT c.1380
G R P L F P H V L C H N C A V E F N F G p.460
. . . . . . g.11461
CAGAAGGAAAAGCCATATTTTCCAATACCTGAAGAGTATACTTTCATCCAGAACGTCCCC c.1440
Q K E K P Y F P I P E E Y T F I Q N V P p.480
. . . . . | 08 . g.11814
TTAGAGGATCGAGTTAGAGGACCAAAGGGGCCTGAAGAGAAGAAAGATTGTGAA | GTTGTG c.1500
L E D R V R G P K G P E E K K D C E | V V p.500
. . . . . . g.11874
ATGATGATTGGCTTGCCAGGAGCTGGAAAAACTACCTGGGTTACTAAACATGCAGCAGAA c.1560
M M I G L P G A G K T T W V T K H A A E p.520
. . . . . | 09 . g.12675
AATCCAGGGAAATATAACATTCTTGGCACAAATACTATTATGGATAAGATGATG | GTGGCA c.1620
N P G K Y N I L G T N T I M D K M M | V A p.540
. . . . . . g.12735
GGTTTTAAGAAGCAAATGGCAGATACTGGAAAACTGAACACACTGTTGCAGAGAGCCCCC c.1680
G F K K Q M A D T G K L N T L L Q R A P p.560
. . . . . . g.12795
CAGTGTCTTGGGAAATTTATTGAGATTGCTGCCCGAAAGAAGCGAAATTTTATTCTGGAT c.1740
Q C L G K F I E I A A R K K R N F I L D p.580
| 10 . . . . . . g.12957
CAG | ACAAATGTGTCTGCTGCTGCCCAGAGGAGAAAAATGTGCCTGTTTGCAGGCTTCCAG c.1800
Q | T N V S A A A Q R R K M C L F A G F Q p.600
. . . . . . g.13017
CGAAAAGCTGTTGTAGTTTGCCCAAAAGATGAAGACTATAAGCAAAGAACACAGAAGAAA c.1860
R K A V V V C P K D E D Y K Q R T Q K K p.620
. . . . . | 11 . g.13375
GCAGAAGTAGAGGGGAAAGACCTACCAGAACATGCGGTCCTCAAAATGAAAG | GAAACTTT c.1920
A E V E G K D L P E H A V L K M K G | N F p.640
. . . . . . g.13435
ACCCTCCCAGAGGTAGCTGAGTGCTTTGATGAAATAACCTATGTTGAACTTCAGAAGGAA c.1980
T L P E V A E C F D E I T Y V E L Q K E p.660
. . . . . . g.13495
GAAGCCCAAAAACTCTTGGAGCAATATAAGGAAGAAAGCAAAAAGGCTCTTCCACCAGAA c.2040
E A Q K L L E Q Y K E E S K K A L P P E p.680
. . . . . . g.13555
AAGAAACAGAACACTGGCTCAAAGAAAAGCAATAAAAATAAGAGTGGCAAGAACCAGTTT c.2100
K K Q N T G S K K S N K N K S G K N Q F p.700
. . . . . . g.13615
AACAGAGGTGGTGGCCATAGAGGACGTGGAGGATTCAATATGCGTGGTGGAAATTTCAGA c.2160
N R G G G H R G R G G F N M R G G N F R p.720
| 12. . . . . . g.13970
GGAGGAG | CCCCTGGGAATCGTGGCGGATATAATAGGAGGGGCAACATGCCACAGAGAGGT c.2220
G G A | P G N R G G Y N R R G N M P Q R G p.740
. . . . . . g.14030
GGTGGCGGTGGAGGAAGTGGTGGAATCGGCTATCCATACCCTCGTGCCCCTGTTTTTCCT c.2280
G G G G G S G G I G Y P Y P R A P V F P p.760
. . . . . . g.14090
GGCCGTGGTAGTTACTCAAACAGAGGGAACTACAACAGAGGTGGAATGCCCAACAGAGGG c.2340
G R G S Y S N R G N Y N R G G M P N R G p.780
. | 13 . . . . . g.14529
AACTACAACCAG | AACTTCAGAGGACGAGGAAACAATCGTGGCTACAAAAATCAATCTCAG c.2400
N Y N Q | N F R G R G N N R G Y K N Q S Q p.800
. . | 14 . . . . g.15058
GGCTACAACCAGTGGCAGCAGGGT | CAATTCTGGGGTCAGAAGCCATGGAGTCAGCATTAT c.2460
G Y N Q W Q Q G | Q F W G Q K P W S Q H Y p.820
. g.15076
CACCAAGGATATTATTGA c.2478
H Q G Y Y X p.825
. . . . . . g.15136
atacccaaataaaacgaactgatacatatttctccaaaaccttcacaagaagtcgactgt c.*60
. . . . . . g.15196
tttctttagtaggctaactttttaaacattccacaagaggaagtgcctgcgggttccttt c.*120
. . . . . . g.15256
tttagaagctttgtgggttgattttttttcttttcttttttgtacatttttaattgcagt c.*180
. . . . . . g.15316
ttaaaagtgaatcgtaagagaacctcagcattgtgcacgataagagaatgtgtcagtatt c.*240
. . . . . . g.15376
tcagggttctacattttatctgtaaaatgtgacttttttttttttttatcacaacagaag c.*300
. . . . . . g.15436
taaaatgttgctttgtacctggtgtcttttattaagaatttactccccccatttctcaca c.*360
. . . . . . g.15496
gagaataacagtcgggagtcattgtcacaatataatagaaatgttagcaaccagattcat c.*420
. . . . . . g.15556
gtaaggactaagtggtcctcatgaattgcattaagactctgtactgctcatattacactc c.*480
. . . . . . g.15616
catcctctctgtagtttgctgggtagtggagggggtaagctaaatcatagtttctgacaa c.*540
. . . . . . g.15676
taactgggaaggttttttcttaaaataacaatggaattggtataattgggattgaaaact c.*600
. . . . . . g.15736
aaaacttggaactaagatagagaagatggagtgtatgtagaagggctgttaaaaatgtaa c.*660
. . . . . . g.15796
aacttggttgcattatttgtggaggctcaaacttgtgaaggttaataccataatttttcc c.*720
. . . . . . g.15856
atttgttctgcattttgattctgaaaagaaagctggctttgcccatttcttattaaaaaa c.*780
. . . . . . g.15916
acttgttgtaaatccagttgtctaatgggatctatatgaagttagccatgtctgtatgcc c.*840
. . . . . . g.15976
cttctcccacaaaatactgtataactagtgtgcttgtagtagttaactccaccatctttg c.*900
. . . . . . g.16036
taagctaatgaaattgtgagtcacccatttatatcttaatttttaatcatgtcagttctt c.*960
. . . . . . g.16096
gaatgggtatctccttagcctgctgatttctttttctttctaaagaaagtgggtggagaa c.*1020
. . . . . . g.16156
attaatttagacgtttgtttgcaataaaaagaattcattttactcttgttttgggattct c.*1080
. . . . . . g.16216
cgccatcaaggttcaaaatccctttatataactcccaagaggagaaatttattaagtgtg c.*1140
. . . . . . g.16276
tgctttctggacagcttattctttactctgcatagaacatttaggttttaaaaacttaaa c.*1200
. . . . . . g.16336
tgtatactgacaattgatacataattatgaagtaaagttgaattcttcccttcccctccc c.*1260
. . . . . . g.16396
ccccagacaacttttaacatatttaatgaggggaaaaggtactggctgggagaagttaac c.*1320
. . . . . . g.16456
actgagtttatcatctttacagaatgctaatgctgtcctcaactgattattttatataca c.*1380
. . . . . . g.16516
tatatatgatacatgaaactctgggatcagatgcttttagaagccatcatgcaagccagt c.*1440
. . . . . . g.16576
cattgatgtcactgctacacaacactgctaacttgactgtagctatgtaataacattaga c.*1500
. . . . . . g.16636
tcccctaattgtaattatattgggtttgcacagaacactttaatcttcccctcaccaatg c.*1560
. . . . . . g.16696
tgaagtgaggaatcaggagtcaaactgtagaactaaaatttgacttcagtctagcgtttc c.*1620
. . . . . . g.16756
cttggtgtttttaggttgctttggtaagtttaggtttgctatatttctgattgcttagaa c.*1680
. . . . . . g.16816
ttttgttttagccctttaaaatcagatcataaatatgaattcatacttctaaggaatttt c.*1740
. . . . . . g.16876
cttgctataagctggagtttaggtgatgtataggttcagttgagacatttttggaacagg c.*1800
. . . . . . g.16936
caaatccttagttaacataagatatttaacagttgaagatagtgtcatggatttttatct c.*1860
. . . . . . g.16996
tttttagcaagtaatgctaagaaccactggcctgagctactactcttcagtatacattat c.*1920
. . . . . . g.17056
taggattgcatagacttactagaggaacagtttcaggttttgatgctaatcagtgttgtg c.*1980
. . . . . . g.17116
tcctaaagttgtcctttgtgcctttaaaaagttttggatatatcttctagtttaaaattg c.*2040
. . . . . . g.17176
cttattaaggaattcattttataattgcagtgggaaagtaatggtcaagtaacactaggt c.*2100
. . . . . . g.17236
agactatcatgcctgtttagcccagagaatttggggggagagagaatagataaaaatggc c.*2160
. . . . . . g.17296
acccagaaaaatgttaaaatctttagtcaagactagaattaatacaattgtctacacttg c.*2220
. . . . . . g.17356
tatggcagaaataaccttataaagtgtttaaggaattcagagaagggaatgtaccaaata c.*2280
. . . . . . g.17416
agcaacagggagaaaattaggtaagaagtaagatacgaacgagaaacctgatttattgct c.*2340
. . . . . . g.17476
catccttcccttgcctccctaatggcaagcaaaactctgaacatctgaaaaggatgtagt c.*2400
. . . . . . g.17536
tctggacaaatcctgactacccagaggaaactcactgtgagattgctgttgatttgaagg c.*2460
. . . . . . g.17596
gtgctttcactaaggttatattttaaagtagaataacacatgctgagtgtaaactggctt c.*2520
. . . . . . g.17656
tggattggtcagctgcagtagtacaaaaacagcatagaatttgagaaaactaaaactgct c.*2580
. . . . . . g.17716
atgagatagctatgagaaaactaaaactgctatgagatagaaatgatgtaaaattatgtg c.*2640
. . . . . . g.17776
gaaagttttccctcatatactcacatacagcctttgaagggctctggctctgaccggttg c.*2700
. . . . . . g.17836
atggccttgagcgagatgaaatcatgaaattgagtcaaatcaatttgacattgaaatgac c.*2760
. . . . . . g.17896
aagaggaaactcttaaatacataaaaacaagctctcatttgcctaggatagatactgtct c.*2820
. . . . . . g.17956
taaaaataaagactgaacctagatgttctgagcactagcaacaaggtattttaacaagtt c.*2880
. . . . . . g.18016
taaaggaattctctgaaaaagttataaaattattctaggaaacataaccataatagtgtt c.*2940
. . . . . . g.18076
ttaagggactttcacctggggattttatattcatgaacagagtgtattctgtatttaaaa c.*3000
. . . . . . g.18136
tgtctcatttgtgggaattggatgacatgttttttgataaatttattcacaatataaatt c.*3060
. . . . . . g.18196
gactttttattctaggaccatgtgaataatgggttccattgcacaaatacaaatatttta c.*3120
. . . . . . g.18256
atagcttcttaggcagtggtgtagacatcttggatataaataattgtagatcttgtatat c.*3180
. . . . . . g.18316
ttgatttttaaaaaactagaataaacagagaggcataaacatatcttagagtccaagtgg c.*3240
. . . . . . g.18376
tagtgtttagcattggatataataaatggatgttttacaaagtgtttccataattctctt c.*3300
. . . . . . g.18436
cctatacataaatgtcttgttttcaaaagtggatggaacttggctgggtgtggtggctca c.*3360
. . . . . . g.18496
cgcctgtaatcctagcactttgggaggccaaggcgggaggatcacttgagctcaggagtt c.*3420
. . . . . . g.18556
tgagaccatcctgggcaacatagtgagacctggtctcttgaaaaaaaaaaagtggatgga c.*3480
. . . . . . g.18616
acttgtagcagagaattttatctacttctcaacctgcttcagaatacccatttgagatgt c.*3540
. . . . . . g.18676
tcccctggaaagatgaacacaatactgcatctgaagccatttcttcccacctaacattct c.*3600
. . . . . . g.18736
taaaatgattagagtctaaactttgtcattcattcctaattctggagctctgaggttgag c.*3660
. . . . . . g.18796
gtgttcagagtttggtgaataattgggtttaagttttaacattttagtaataataaaagc c.*3720
. . . . . . g.18856
aaacacatacatgttaaggcctgacaataggttgcaatacccatgcattgggactcatac c.*3780
. . . . . . g.18916
ccagcataaatggtgagggactgaacattagtgctttgagcaagaattggttaactacct c.*3840
. . . . . . g.18976
gagatctctaaaacagtaatttgaattactaatacataaaccacaagtctcttcgaattg c.*3900
. . . . . . g.19036
ttaattgcctaaatttaccctaaaacttagttaacgctgcagtgcctttattaaagcttt c.*3960
. . . . . . g.19096
tttttgggggggggtgtgggcacagctactccataactttaaattttaaagcatgaaggt c.*4020
. . . . . . g.19156
gatctagctagtgttagtgcttgagttggtagttacataggctgctcttgaatcgtcctg c.*4080
. . . . . . g.19216
ttttctttgcctagtattagcaccacaggtacatatttgtaaaataagcattaaaagtac c.*4140
. g.19226
tttgtccagc c.*4150
(downstream sequence)
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