(used for variant description)
(last modified April 2, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_002140.3 in the HNRNPK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029577.1, covering HNRNPK transcript NM_002140.3.
(upstream sequence)
. g.5019
ccctagccgcccctccccc c.-241
. . . . . . g.5079
cagctagtgagtgcgcgaacgagaaaggaggagggcgctccaggcgacagcactgcagac c.-181
. . . . . . g.5139
gccattatcctctgtttctctgctgcaccgacctcgacgtcttgcctgtgtcccacttgt c.-121
. . | 02 . . . . g.7249
tcgcggcctatag | gctactgcagcactggggtgtcagttgttggtccgacccagaacgct c.-61
. . . . | 03 . . g.7402
tcagttctgctctgcaaggatatataataactg | attggtgtgcccgtttaataaaagaat c.-1
. . . . . | 04 g.7870
ATGGAAACTGAACAGCCAGAAGAAACCTTCCCTAACACTGAAACCAATGGTGAATTTG | GT c.60
M E T E Q P E E T F P N T E T N G E F G | p.20
. . . . . . g.7930
AAACGCCCTGCAGAAGATATGGAAGAGGAACAAGCATTTAAAAGATCTAGAAACACTGAT c.120
K R P A E D M E E E Q A F K R S R N T D p.40
. . . | 05 . . . g.8627
GAGATGGTTGAATTACGCATTCTGCTTCAGAGCAAG | AATGCTGGGGCAGTGATTGGAAAA c.180
E M V E L R I L L Q S K | N A G A V I G K p.60
. . . | 06 . . . g.10176
GGAGGCAAGAATATTAAGGCTCTCCGTACAGAC | TACAATGCCAGTGTTTCAGTCCCAGAC c.240
G G K N I K A L R T D | Y N A S V S V P D p.80
. | 07. . . . . g.11108
AGCAGTGGCCCCGAGCG | CATATTGAGTATCAGTGCTGATATTGAAACAATTGGAGAAATT c.300
S S G P E R | I L S I S A D I E T I G E I p.100
. . . | 08 . . . g.11711
CTGAAGAAAATCATCCCTACCTTGGAAGAG | GGCCTGCAGTTGCCATCACCCACTGCAACC c.360
L K K I I P T L E E | G L Q L P S P T A T p.120
. . . . | 09 . . g.12273
AGCCAGCTCCCGCTCGAATCTGATGCTGTGGAATGCTTAAAT | TACCAACACTATAAAGGA c.420
S Q L P L E S D A V E C L N | Y Q H Y K G p.140
. . . . . . g.12333
AGTGACTTTGACTGCGAGTTGAGGCTGTTGATTCATCAGAGTCTAGCAGGAGGAATTATT c.480
S D F D C E L R L L I H Q S L A G G I I p.160
. . . | 10 . . . g.12706
GGGGTCAAAGGTGCTAAAATCAAAGAACTTCGAGAG | AACACTCAAACCACCATCAAGCTT c.540
G V K G A K I K E L R E | N T Q T T I K L p.180
. . . . . . g.12766
TTCCAGGAATGCTGTCCTCATTCCACTGACAGAGTTGTTCTTATTGGAGGAAAACCCGAT c.600
F Q E C C P H S T D R V V L I G G K P D p.200
. . . . | 11 . . g.13480
AGGGTTGTAGAGTGCATAAAGATCATCCTTGATCTTATATCTGAG | TCTCCCATCAAAGGA c.660
R V V E C I K I I L D L I S E | S P I K G p.220
. . . . . . g.13540
CGTGCACAGCCTTATGATCCCAATTTTTACGATGAAACCTATGATTATGGTGGTTTTACA c.720
R A Q P Y D P N F Y D E T Y D Y G G F T p.240
. . . . . . g.13600
ATGATGTTTGATGACCGTCGCGGACGCCCAGTGGGATTTCCCATGCGGGGAAGAGGTGGT c.780
M M F D D R R G R P V G F P M R G R G G p.260
. . . . . . g.13660
TTTGACAGAATGCCTCCTGGTCGGGGTGGGCGTCCCATGCCTCCATCTAGAAGAGATTAT c.840
F D R M P P G R G G R P M P P S R R D Y p.280
. . . . . . g.13720
GATGATATGAGCCCTCGTCGAGGACCACCTCCCCCTCCTCCCGGACGAGGCGGCCGGGGT c.900
D D M S P R R G P P P P P P G R G G R G p.300
. . . . . | 12 . g.13935
GGTAGCAGAGCTCGGAATCTTCCTCTTCCTCCACCACCACCACCTAGAGGGGG | AGACCTC c.960
G S R A R N L P L P P P P P P R G G | D L p.320
. . . . | 13 . g.14310
ATGGCCTATGACAGAAGAGGGAGACCTGGAGACCGTTACGACGGCATG | GTTGGTTTCAGT c.1020
M A Y D R R G R P G D R Y D G M | V G F S p.340
. . . . . . g.14370
GCTGATGAAACTTGGGACTCTGCAATAGATACATGGAGCCCATCAGAATGGCAGATGGCT c.1080
A D E T W D S A I D T W S P S E W Q M A p.360
. | 14 . | 15 . . . g.14867
TATGAACCACAG | GGTGGCTCCGGATATG | ATTATTCCTATGCAGGGGGTCGTGGCTCATAT c.1140
Y E P Q | G G S G Y D | Y S Y A G G R G S Y p.380
. . . . . | 16 . g.15332
GGTGATCTTGGTGGACCTATTATTACTACACAAGTAACTATTCCCAAAGAT | TTGGCTGGA c.1200
G D L G G P I I T T Q V T I P K D | L A G p.400
. . . . . . g.15392
TCTATTATTGGCAAAGGTGGTCAGCGGATTAAACAAATCCGTCATGAGTCGGGAGCTTCG c.1260
S I I G K G G Q R I K Q I R H E S G A S p.420
. . . . . . g.15452
ATCAAAATTGATGAGCCTTTAGAAGGATCCGAAGATCGGATCATTACCATTACAGGAACA c.1320
I K I D E P L E G S E D R I I T I T G T p.440
. . . . | 17 . . g.16233
CAGGACCAGATACAGAATGCACAGTATTTGCTGCAGAACAG | TGTGAAGCAGTATGCAGAT c.1380
Q D Q I Q N A Q Y L L Q N S | V K Q Y A D p.460
. g.16248
GTTGAAGGATTCTAA c.1395
V E G F X p.464
. . . . . . g.16308
tgcaagatattttttcttttttatagtgtgaagcagtattctggaaagtttttctaagac c.*60
. . . . . . g.16368
tagtgaagaactgaaggagtcctgcatctttttttttttatctgcttctgtttaaaaagc c.*120
. . . . . . g.16428
caacattcctctgcttcataggtgttctgcatttgaggtgtagtgaaatctttgctgttc c.*180
. . . . . . g.16488
accagatgtaatgttttagttccttacaaacagggttgggggggggaagggcgtgcaaaa c.*240
. . . . . . g.16548
actaacattgaaattttgaaacagcagcagagtgagtggattttatttttcgttattgtt c.*300
. . . . . . g.16608
ggtggtttaaaaaattccccccatgtaattattgtgaacaccttgctttgtggtcactgt c.*360
. . . . . . g.16668
aacatttggggggtgggacagggaggaaaagtaacaatagtccacatgtccctggcatct c.*420
. . . . . . g.16728
gttcagagcagtgtgcagaatgtaatgctcttttgtaagaaacgttttatgatttttaaa c.*480
. . . . . . g.16788
ataaatttagtgaacctatttttggtggtcattttttttttaagacagtcattttaaaat c.*540
. . . . . . g.16848
ggtggctgaatttcccaacccacccccaaactaaacactaagtttaattttcagctcctc c.*600
. . . . . . g.16908
tgttggacatataagtgcatctcttgttggacataggcaaaataacttggcaaacttagt c.*660
. . . . . . g.16968
tctggtgatttcttgatggtttggaagtctattgctgggaagaaattccatcatacatat c.*720
. . . . . . g.17028
tcatgcttataataagctggggattttttgtttgtttttgcaaatgcttgcccctacttt c.*780
. . . . . . g.17088
tcaacaattttctatgttagttgtgaagaactaaggtggggagcagtactacaagttgag c.*840
. . . . . . g.17148
taatggtatgagtatataccagaattctgattggcagcaagttttattaatcagaataac c.*900
. . . . . . g.17208
acttggttatggaagtgactaatgctgaaaaaattgattatttttattagataatttctc c.*960
. . . . . . g.17268
acctatagacttaaactgtcaatttgctctagtgtcttattagttaaactttgtaaaata c.*1020
. . . . . . g.17328
tatatatacttgtttttccattgtatgcaaattgaaagaaaaagatgtaccatttctctg c.*1080
. . . . . . g.17388
ttgtatgttggattatgtaggaaatgtttgtgtacaattcaaaaaaaaaaaagatgaaaa c.*1140
. . . . . . g.17448
aagttcctgtggatgttttgtgtagtatcttggcatttgtattgatagttaaaattcact c.*1200
. . . . . . g.17508
tccaaataaataaaacacccatgatgctagatttgatgtgtgcccgatttgaacaagggt c.*1260
. . . . . . g.17568
tgattgacacctgtaaaatttgttgaaacgttcctcttaaaaggaaatatagtaatctta c.*1320
g.17572
tgta c.*1324
(downstream sequence)
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