(used for variant description)
(last modified April 29, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001199397.1 in the NEK1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_027982.1, covering NEK1 transcript NM_001199397.1.
(upstream sequence)
. . . g.5038
cacacgccagcgccggtgacgcgccggccgctctccct c.-541
. . . . . . g.5098
tagtccgcattcgctccagggttttgggaccctaggttgcggagtccttaccctaccctg c.-481
. . . . . . g.5158
gcctctcgagcagttgtccccataactcggaatctagagccgctgttgcgaggcaggagc c.-421
. . . . . . g.5218
acgtggcagtcaagtagcttcccagtcccgaacgccgcccgtccccaccccgccgtggcc c.-361
. . . . . . g.5278
actagcaacgacctctgtgaagttggagaggcggtaacggaggcactccccctgctgcac c.-301
. . . . . . g.5338
cccgccgtttctacggggctcagaaaccagtttgtttgtttcgtcggggtagtgtcgacc c.-241
. . . . . . g.5398
tgtcttacgggcgtcgcccgagacaggacggagtcaaacccgtggtatcaactgaagacg c.-181
. | 02. . . . . g.5536
agtgtcag | gatgtcattttcaaaatgcgggatggtacctctgctttattaagccccgtag c.-121
. . . . . . g.5596
gaagactgccacacctagactgatgcttattagtcatcaccgttattcctactaacgtcc c.-61
. . | 03 . . . . g.14997
tgtgtcactgag | ttttttaaatgtctagcatatctgtaaagatgccttagaaaaagaatc c.-1
. . . . . . g.15057
ATGGAGAAGTATGTTAGACTACAGAAGATTGGAGAAGGTTCATTTGGAAAAGCCATTCTT c.60
M E K Y V R L Q K I G E G S F G K A I L p.20
. . . . . | 04. g.15526
GTTAAATCTACAGAAGATGGCAGACAGTATGTTATCAAGGAAATTAACATCTCAAGA | ATG c.120
V K S T E D G R Q Y V I K E I N I S R | M p.40
. . . . . . g.15586
TCCAGTAAAGAAAGAGAAGAATCAAGGAGAGAAGTTGCAGTATTGGCAAACATGAAGCAT c.180
S S K E R E E S R R E V A V L A N M K H p.60
. . . | 05 . . . g.18456
CCAAATATTGTCCAGTATAGAGAATCATTTGAAG | AAAATGGCTCTCTCTACATAGTAATG c.240
P N I V Q Y R E S F E E | N G S L Y I V M p.80
. . . . . . g.18516
GATTACTGTGAGGGAGGGGATCTGTTTAAGCGAATAAATGCTCAGAAAGGCGTTTTGTTT c.300
D Y C E G G D L F K R I N A Q K G V L F p.100
. | 06 . . . . . g.26866
CAAGAGGATCAG | ATTTTGGACTGGTTTGTACAGATATGTTTGGCCCTGAAACATGTACAT c.360
Q E D Q | I L D W F V Q I C L A L K H V H p.120
. . . | 07 . . . g.28137
GATAGAAAAATTCTTCATCGAGACATTAAATCTCAG | AACATATTTTTAACTAAAGATGGA c.420
D R K I L H R D I K S Q | N I F L T K D G p.140
. . . . | 08 . . g.28908
ACAGTACAACTTGGAGATTTTGGAATTGCTAGAGTTCTTAATAG | TACTGTAGAGCTGGCT c.480
T V Q L G D F G I A R V L N S | T V E L A p.160
. . . . . . g.28968
CGAACTTGCATAGGGACCCCATACTACTTGTCACCTGAAATCTGTGAAAACAAACCTTAC c.540
R T C I G T P Y Y L S P E I C E N K P Y p.180
. | 09 . . . . . g.30063
AATAATAAAAG | TGACATTTGGGCTCTGGGGTGTGTCCTTTATGAGCTGTGTACACTTAAA c.600
N N K S | D I W A L G C V L Y E L C T L K p.200
| 10 . . . . . . g.32132
CATGCT | TTTGAAGCTGGCAGTATGAAAAACCTGGTACTGAAGATAATATCTGGATCTTTT c.660
H A | F E A G S M K N L V L K I I S G S F p.220
. . . . . . g.32192
CCACCTGTGTCTTTGCATTATTCCTATGATCTCCGCAGTTTGGTGTCTCAGTTATTTAAA c.720
P P V S L H Y S Y D L R S L V S Q L F K p.240
. . . . . . g.32252
AGAAATCCTAGGGATAGACCATCAGTCAACTCCATATTGGAGAAAGGTTTTATAGCCAAA c.780
R N P R D R P S V N S I L E K G F I A K p.260
. . | 11. . . . g.36758
CGCATTGAAAAGTTTCTCTCTCCTCAG | CTTATTGCAGAAGAATTTTGTCTAAAAACATTT c.840
R I E K F L S P Q | L I A E E F C L K T F p.280
. . | 12 . . . g.40580
TCGAAGTTTGGATCACAGCCTATACCAG | CTAAAAGACCAGCTTCAGGACAAAACTCGATT c.900
S K F G S Q P I P A | K R P A S G Q N S I p.300
. . . . . . g.40640
TCTGTTATGCCTGCTCAGAAAATTACAAAGCCTGCCGCTAAATATGGAATACCTTTAGCA c.960
S V M P A Q K I T K P A A K Y G I P L A p.320
. . . . . . g.40700
TATAAGAAATATGGAGATAAAAAATTACACGAAAAGAAACCACTGCAAAAACATAAACAG c.1020
Y K K Y G D K K L H E K K P L Q K H K Q p.340
| 13 . . . . . . g.55491
| GCCCATCAAACTCCAGAGAAGAGAGTGAATACTGGAGAAGAAAGGAGGAAAATATCTGAG c.1080
| A H Q T P E K R V N T G E E R R K I S E p.360
| 14 . . . . . . g.55796
| GAAGCAGCAAGAAAGAGAAGGCTGGAATTTATTGAAAAAGAAAAGAAACAAAAGGATCAG c.1140
| E A A R K R R L E F I E K E K K Q K D Q p.380
| 15 . . . . . | 16 . g.56082
| ATTATTAGTTTAATGAAGGCTGAACAAATGAAAAGGCAAGAAAAGGAAAGG | TTGGAAAGA c.1200
| I I S L M K A E Q M K R Q E K E R | L E R p.400
. . . . . . g.56142
ATAAATAGGGCCAGGGAACAAGGATGGAGAAATGTGCTAAGTGCTGGTGGAAGTGGTGAA c.1260
I N R A R E Q G W R N V L S A G G S G E p.420
| 17 . . . . . . g.61586
GTAAAG | GCTCCTTTTCTGGGCAGTGGAGGGACTATAGCTCCATCATCTTTTTCTTCTCGA c.1320
V K | A P F L G S G G T I A P S S F S S R p.440
. . . . . . g.61646
GGACAGTATGAACATTACCATGCCATTTTTGACCAAATGCAGCAACAAAGAGCAGAAGAT c.1380
G Q Y E H Y H A I F D Q M Q Q Q R A E D p.460
. . . . . | 18 . g.61786
AATGAAGCTAAATGGAAAAGAGAAATATATGGTCGAGGTCTTCCAGAAAG | AGGAATTCTG c.1440
N E A K W K R E I Y G R G L P E R | G I L p.480
. . . . . . g.61846
CCTGGAGTTCGTCCAGGATTTCCTTATGGGGCTGCAGGTCATCACCATTTTCCTGATGCT c.1500
P G V R P G F P Y G A A G H H H F P D A p.500
. . . . . . g.61906
GATGATATTAGAAAAACTTTGAAAAGATTGAAGGCGGTGTCTAAACAAGCCAATGCAAAC c.1560
D D I R K T L K R L K A V S K Q A N A N p.520
| 19 . . . . . . g.79774
AG | GCAAAAAGGGCAGCTAGCTGTAGAAAGAGCTAAACAAGTAGAAGAGTTCCTGCAGCGA c.1620
R | Q K G Q L A V E R A K Q V E E F L Q R p.540
. . . . | 20 . . g.108790
AAACGGGAAGCTATGCAGAATAAAGCTCGAGCCGAAGGACATATG | GGAATCCTGCAAAAC c.1680
K R E A M Q N K A R A E G H M | G I L Q N p.560
. . . . . . g.108850
CTGGCAGCTATGTATGGAGGCAGGCCCAGCTCTTCAAGAGGAGGGAAGCCAAGAAACAAA c.1740
L A A M Y G G R P S S S R G G K P R N K p.580
| 21 . . . . . g.109347
GAGGAAGAG | GTTTATCTGGCAAGACTGAGGCAAATAAGACTACAGAATTTCAATGAGCGC c.1800
E E E | V Y L A R L R Q I R L Q N F N E R p.600
. . . | 22 . . . g.109862
CAACAGATTAAAGCCAAACTTCGTGGTGAAAAG | AAAGAAGCTAATCATTCTGAAGGACAA c.1860
Q Q I K A K L R G E K | K E A N H S E G Q p.620
. . . . . | 23 . g.110504
GAAGGAAGTGAAGAGGCTGACATGAGGCGCAAAAAAATCGAATCACTGAAG | GCCCATGCA c.1920
E G S E E A D M R R K K I E S L K | A H A p.640
. . . . . . g.110564
AATGCACGTGCTGCTGTACTAAAAGAACAACTAGAACGAAAGAGAAAGGAGGCTTATGAG c.1980
N A R A A V L K E Q L E R K R K E A Y E p.660
. . | 24. . . . g.138126
AGAGAAAAAAAAGTGTGGGAAGAGCAT | TTGGTGGCTAAAGGAGTTAAGAGTTCTGATGTT c.2040
R E K K V W E E H | L V A K G V K S S D V p.680
. . . . . . g.138186
TCTCCACCTTTGGGACAGCATGAAACAGGTGGCTCTCCATCAAAGCAACAGATGAGATCT c.2100
S P P L G Q H E T G G S P S K Q Q M R S p.700
. . . | 25 . . g.140151
GTTATTTCTGTAACTTCAGCTTTGAAAGAAGTTGGCGTG | GACAGTAGTTTAACTGATACC c.2160
V I S V T S A L K E V G V | D S S L T D T p.720
. . . . | 26 . . g.140290
CGGGAAACTTCAGAAGAGATGCAAAAGACCAACAATGCTATTTCA | AGTAAGCGAGAAATA c.2220
R E T S E E M Q K T N N A I S | S K R E I p.740
. . . . . . g.140350
CTTCGTAGATTAAATGAAAATCTTAAAGCTCAAGAAGATGAAAAAGGAAAGCAGAATCTC c.2280
L R R L N E N L K A Q E D E K G K Q N L p.760
. . . . . . g.140410
TCTGATACTTTTGAGATAAATGTTCATGAAGATGCCAAAGAGCATGAAAAAGAAAAATCA c.2340
S D T F E I N V H E D A K E H E K E K S p.780
. . . . . . g.140470
GTTTCATCTGATCGCAAGAAGTGGGAGGCAGGAGGTCAACTTGTGATTCCTCTGGATGAG c.2400
V S S D R K K W E A G G Q L V I P L D E p.800
. . . | 27 . . . g.154258
TTAACACTAGATACATCCTTCTCTACAACTGAAA | GACATACAGTGGGAGAAGTTATTAAA c.2460
L T L D T S F S T T E R | H T V G E V I K p.820
. . . . . . g.154318
TTAGGTCCTAATGGATCTCCAAGAAGAGCCTGGGGGAAAAGTCCGACAGATTCTGTTCTA c.2520
L G P N G S P R R A W G K S P T D S V L p.840
. . . . . . g.154378
AAGATACTTGGAGAAGCTGAACTACAACTTCAGACAGAACTATTAGAAAATACAACTATT c.2580
K I L G E A E L Q L Q T E L L E N T T I p.860
| 28. . . . . . g.179421
AGAAGTG | AGATTTCTCCCGAAGGGGAAAAGTACAAACCCTTAATTACTGGAGAAAAAAAA c.2640
R S E | I S P E G E K Y K P L I T G E K K p.880
. . . . . . g.179481
GTACAATGTATTTCACATGAAATAAACCCATCAGCTATTGTTGATTCTCCTGTTGAGACA c.2700
V Q C I S H E I N P S A I V D S P V E T p.900
. . . . . . g.179541
AAAAGTCCCGAGTTCAGTGAGGCATCTCCACAGATGTCATTGAAACTGGAAGGAAATTTA c.2760
K S P E F S E A S P Q M S L K L E G N L p.920
| 29 . . . . . . g.184018
GAAG | AACCTGATGATTTGGAAACAGAAATTCTACAAGAGCCAAGTGGAACAAACAAAGAT c.2820
E E | P D D L E T E I L Q E P S G T N K D p.940
. . . . . . g.184078
GAGAGCTTGCCATGCACTATTACTGATGTGTGGATTAGTGAGGAAAAAGAAACAAAGGAA c.2880
E S L P C T I T D V W I S E E K E T K E p.960
| 30 . . . . . . g.191448
ACTCA | GTCGGCAGATAGGATCACCATTCAGGAAAATGAAGTTTCTGAAGATGGAGTCTCG c.2940
T Q | S A D R I T I Q E N E V S E D G V S p.980
. . . | 31 . . . g.192853
AGTACTGTGGACCAACTTAGTGACATTCATATAG | AGCCTGGAACCAATGATTCTCAGCAC c.3000
S T V D Q L S D I H I E | P G T N D S Q H p.1000
. . . . . . g.192913
TCTAAATGTGATGTAGATAAGTCTGTGCAACCGGAACCATTTTTCCATAAGGTGGTTCAT c.3060
S K C D V D K S V Q P E P F F H K V V H p.1020
. . . . . . g.192973
TCTGAACACTTGAACTTAGTCCCTCAAGTTCAATCAGTTCAGTGTTCACCAGAAGAATCC c.3120
S E H L N L V P Q V Q S V Q C S P E E S p.1040
. . . . . . g.193033
TTTGCATTTCGATCTCACTCGCATTTACCACCAAAAAATAAAAACAAGAATTCCTTGCTG c.3180
F A F R S H S H L P P K N K N K N S L L p.1060
. . . . | 32 . . g.210898
ATTGGACTTTCAACTGGTCTGTTTGATGCAAACAACCCAAAG | ATGTTAAGGACATGTTCA c.3240
I G L S T G L F D A N N P K | M L R T C S p.1080
. . . . . . g.210958
CTTCCAGATCTCTCAAAGCTGTTCAGAACCCTTATGGATGTTCCCACCGTAGGAGATGTT c.3300
L P D L S K L F R T L M D V P T V G D V p.1100
. . . . . . g.211018
CGTCAAGACAATCTTGAAATAGATGAAATTGAAGATGAAAACATTAAAGAAGGACCTTCT c.3360
R Q D N L E I D E I E D E N I K E G P S p.1120
. | 33 . . . . . g.215813
GATTCTGAAGACAT | TGTGTTTGAAGAAACTGACACAGATTTACAAGAGCTGCAGGCCTCG c.3420
D S E D I | V F E E T D T D L Q E L Q A S p.1140
. . . . . . g.215873
ATGGAACAGTTACTTAGGGAACAACCTGGTGAAGAATACAGTGAAGAAGAAGAGTCAGTC c.3480
M E Q L L R E Q P G E E Y S E E E E S V p.1160
. . . . . . g.215933
TTGAAGAACAGTGATGTGGAGCCAACTGCAAATGGGACAGATGTGGCAGATGAAGATGAC c.3540
L K N S D V E P T A N G T D V A D E D D p.1180
. . . . | 34 . . g.216993
AATCCCAGCAGTGAAAGTGCCCTGAACGAAGAATGGCACTCAG | ATAACAGTGATGGTGAA c.3600
N P S S E S A L N E E W H S D | N S D G E p.1200
. . . . . . g.217053
ATTGCTAGTGAATGTGAATGCGATAGTGTCTTTAACCATTTAGAGGAACTGAGACTTCAT c.3660
I A S E C E C D S V F N H L E E L R L H p.1220
. . . . . | 35 . g.217276
CTGGAGCAGGAAATGGGCTTTGAAAAATTCTTTGAGGTTTATGAGAAAATAAAG | GCTATT c.3720
L E Q E M G F E K F F E V Y E K I K | A I p.1240
. . . . . . g.217336
CATGAAGATGAAGATGAAAATATTGAAATTTGTTCAAAAATAGTTCAAAATATTTTGGGA c.3780
H E D E D E N I E I C S K I V Q N I L G p.1260
. . . . . . g.217396
AATGAACATCAGCATCTTTATGCCAAGATTCTTCATTTAGTCATGGCAGATGGAGCCTAC c.3840
N E H Q H L Y A K I L H L V M A D G A Y p.1280
| 36. . g.223157
CAAGAAG | ATAATGATGAATAA c.3861
Q E D | N D E X p.1286
. . . . . . g.223217
tcctcaaaatgttttttaatcctcaactatatgaaagcatttgaatttggcttatcagaa c.*60
. . . . . . g.223277
taacaagcttcagtgggaaatacagcaattatttatttaaaaaatcagatttaagatgga c.*120
. . . . . . g.223337
ctttcttattgcatgaaaaagatggagaaacatgccatttttcagtgaagattctaatat c.*180
. . . . . . g.223397
tttatctattttgttcattgaattccatggttaaatctcataaaatatatactttattaa c.*240
. . . . . . g.223457
atcatccaaccaaagcataggaaacattgacccagaacctgacttaatggttttgaagat c.*300
. . . . . . g.223517
ttactatgcaatagggtaactttgagtttcagcaaatgtctttaggttgaaggaattacc c.*360
. . . . . . g.223577
tatgtcatgaaggacctgtctgtggtttttcaatggagtctttaagcatgatcttttttc c.*420
. . . . . . g.223637
tgtctagtacttgttttcattctggccagcagttctacattaaatcaccttgtcaagggc c.*480
. . . . . . g.223697
tctgtttacatctatacattttgaagatgaaatttttagccttaaagtttatattctcaa c.*540
. . . . . . g.223757
gtccttttacaatcagtgtgtctcctgaactagcacacaggctgtagaaacagtcttaga c.*600
. . . . . . g.223817
aatcattgaaagatttgattatgaaagaatagcaaaattatatttcttgacatataaaaa c.*660
. . . . . . g.223877
gttggtttaatgcctttatttctctttaaggaccagaaccaggaatactatatcgaaaaa c.*720
. . . . . . g.223937
ttagtctgtggatttaacactgacttagcatatagcttaaagttgctcttttggttttta c.*780
. . . . . . g.223997
acttcctccatacataagcttcaaggacaataagatgttaaaaaggaggaaataattatt c.*840
. . . . . . g.224057
tttattttgacactgtgacagttttggtaactaggatcctagggagggaaatgtttgcct c.*900
. . . . . . g.224117
gttgaacttctttctgttatgagaggatttagttaggtcattaagatgttgatcacacag c.*960
. . . . . . g.224177
cttcaatcacaatatgccaagtataacctggtttcgttagaggtgtctacagtccagatg c.*1020
. . . . . . g.224237
ttcttcgtaataaaagcaaagtttttgaacctctgagtccaaagcaggctggttggcata c.*1080
. . . . . . g.224297
atatgtaatttgaaaaataaaatcttatcttgcagcactatcagtatgttgaatttatta c.*1140
. . . . . . g.224357
tgtatattatttctaatatccgaaactaaatacttgattttttaatatgtgtgtttattt c.*1200
. . . . g.224397
tatgatattgctattaaatttttattatctacctgaagta c.*1240
(downstream sequence)
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