(used for variant description)
(last modified June 6, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_057175.3 in the NAA15 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_053037.1, covering NAA15 transcript NM_057175.3.
(upstream sequence)
. g.5071
tgttcagttaccacgt c.-241
. . . . . . g.5131
gaaccgccgacggagacccgtagtgggggaggcggcggcagcgttaagtgagaaaggaaa c.-181
. . . . . . g.5191
aaagacaacgaggaaaaaggaggtgtccgggtagggcaacgcggcgacacccgaggcctg c.-121
. . . . . . g.5251
gtggtggcggcggatcgagatattcaaggctgaagcagctacggaacggcagcggcggcg c.-61
. . . . . . g.5311
gtcggacaaactgactgaccgagccgggtggtggcgggagcagcgggagcagccggaacg c.-1
. . . . . | 02 . g.37713
ATGCCGGCCGTGAGCCTCCCGCCCAAGGAGAATGCGCTCTTCAAGCGGATCTTG | AGGTGT c.60
M P A V S L P P K E N A L F K R I L | R C p.20
. . . . . . g.37773
TATGAACATAAACAGTATAGAAATGGATTGAAATTCTGTAAACAAATACTTTCTAATCCC c.120
Y E H K Q Y R N G L K F C K Q I L S N P p.40
. | 03 . . . . g.40422
AAATTTGCAGAGCATGGAG | AAACCTTGGCTATGAAAGGATTAACATTGAACTGTTTGGGG c.180
K F A E H G E | T L A M K G L T L N C L G p.60
. . . . . . g.40482
AAAAAGGAAGAAGCTTATGAATTGGTTCGTAGAGGTTTGAGAAATGACTTGAAGAGTCAT c.240
K K E E A Y E L V R R G L R N D L K S H p.80
| 04 . . . . . . g.44501
GTGT | GTTGGCACGTTTATGGCCTTCTTCAGAGGTCAGACAAGAAGTATGATGAAGCCATT c.300
V C | W H V Y G L L Q R S D K K Y D E A I p.100
. . . . . . g.44561
AAGTGTTACAGAAATGCACTAAAATGGGATAAAGACAATCTTCAAATCTTAAGGGACCTT c.360
K C Y R N A L K W D K D N L Q I L R D L p.120
. . . . | 05 . . g.46377
TCCTTACTACAGATTCAAATGCGAGATCTTGAGGGTTACAGG | GAAACGAGGTATCAGTTA c.420
S L L Q I Q M R D L E G Y R | E T R Y Q L p.140
. . . . . . g.46437
CTTCAGCTTCGACCTGCGCAGAGAGCATCATGGATTGGTTATGCTATTGCTTACCATTTA c.480
L Q L R P A Q R A S W I G Y A I A Y H L p.160
. . . . . | 06. g.47722
TTAGAAGATTATGAAATGGCAGCAAAGATTTTAGAAGAATTTAGGAAAACACAACAG | ACA c.540
L E D Y E M A A K I L E E F R K T Q Q | T p.180
. . . . . . g.47782
TCCCCTGACAAGGTGGATTATGAATATAGTGAACTACTCTTATATCAGAATCAAGTTCTT c.600
S P D K V D Y E Y S E L L L Y Q N Q V L p.200
. . . . . . g.47842
CGGGAAGCAGGTCTCTATAGAGAAGCTTTGGAACATCTTTGTACCTATGAAAAGCAGATT c.660
R E A G L Y R E A L E H L C T Y E K Q I p.220
. . . | 07 . . . g.53024
TGTGATAAACTTGCTGTAGAAGAAACCAAAG | GGGAACTTCTGTTGCAACTATGTCGTTTG c.720
C D K L A V E E T K G | E L L L Q L C R L p.240
. . . . . . g.53084
GAAGATGCTGCAGATGTTTATAGAGGATTGCAAGAGAGAAATCCTGAAAACTGGGCCTAT c.780
E D A A D V Y R G L Q E R N P E N W A Y p.260
. . . | 08 . . . g.54753
TACAAAGGCTTGGAAAAAGCACTCAAGCCAG | CTAATATGTTAGAACGGCTAAAAATTTAT c.840
Y K G L E K A L K P A | N M L E R L K I Y p.280
. . . . . . g.54813
GAGGAAGCCTGGACTAAATATCCCAGGGGACTGGTGCCAAGAAGGCTGCCGTTAAACTTT c.900
E E A W T K Y P R G L V P R R L P L N F p.300
| 09. . . . . . g.55091
TTATCTG | GTGAGAAGTTTAAAGAATGTTTGGATAAGTTCCTAAGGATGAATTTCAGCAAG c.960
L S G | E K F K E C L D K F L R M N F S K p.320
. . . . . | 10 . g.57565
GGTTGCCCACCAGTCTTCAATACTTTAAGATCATTATACAAAGACAAAGAAAAG | GTGGCA c.1020
G C P P V F N T L R S L Y K D K E K | V A p.340
. . . . . . g.57625
ATCATAGAAGAGTTAGTAGTAGGTTATGAAACCTCTCTAAAAAGCTGCCGGTTATTTAAC c.1080
I I E E L V V G Y E T S L K S C R L F N p.360
| 11. . . . . . g.60972
CCCAATG | ATGATGGAAAGGAGGAACCACCAACCACATTACTTTGGGTCCAGTACTACTTG c.1140
P N D | D G K E E P P T T L L W V Q Y Y L p.380
. . . . . . g.61032
GCACAACATTATGACAAAATTGGTCAGCCATCTATTGCTTTGGAGTACATAAATACTGCT c.1200
A Q H Y D K I G Q P S I A L E Y I N T A p.400
. . . . . | 12. g.63279
ATTGAAAGTACACCTACATTAATAGAACTCTTTCTCGTGAAAGCTAAAATCTATAAG | CAT c.1260
I E S T P T L I E L F L V K A K I Y K | H p.420
. . . . . . g.63339
GCTGGAAATATTAAAGAAGCTGCAAGGTGGATGGATGAGGCCCAGGCCTTGGACACAGCA c.1320
A G N I K E A A R W M D E A Q A L D T A p.440
. . . . . . g.63399
GACAGATTTATCAACTCCAAATGTGCAAAATACATGCTAAAAGCCAACCTGATTAAAGAA c.1380
D R F I N S K C A K Y M L K A N L I K E p.460
. . . | 13 . . . g.64063
GCTGAAGAAATGTGCTCAAAGTTTACAAGG | GAAGGAACATCAGCGGTAGAGAATTTGAAT c.1440
A E E M C S K F T R | E G T S A V E N L N p.480
. . . . . . g.64123
GAAATGCAGTGCATGTGGTTCCAAACAGAATGTGCCCAGGCTTATAAAGCAATGAATAAA c.1500
E M Q C M W F Q T E C A Q A Y K A M N K p.500
. . . | 14 . . g.65278
TTTGGTGAAGCACTTAAGAAATGTCATGAGATTGAGAGA | CATTTTATAGAAATCACTGAT c.1560
F G E A L K K C H E I E R | H F I E I T D p.520
. . . . . . g.65338
GACCAGTTTGACTTTCATACATACTGTATGAGGAAGATTACCCTTAGATCATATGTGGAC c.1620
D Q F D F H T Y C M R K I T L R S Y V D p.540
. . . . . . g.65398
TTATTAAAACTAGAAGATGTACTTCGACAGCATCCATTTTACTTCAAGGCAGCAAGAATT c.1680
L L K L E D V L R Q H P F Y F K A A R I p.560
. . . . . . g.65458
GCTATAGAGATCTATTTGAAGCTTCATGACAACCCCCTTACAGATGAGAATAAAGAACAC c.1740
A I E I Y L K L H D N P L T D E N K E H p.580
. | 15 . . . . . g.73791
GAAGCTGATACAG | CAAACATGTCTGACAAAGAGCTAAAGAAGCTACGTAATAAACAAAGA c.1800
E A D T A | N M S D K E L K K L R N K Q R p.600
. . . . . . g.73851
AGAGCTCAAAAGAAAGCCCAGATAGAAGAAGAGAAAAAAAATGCAGAAAAAGAAAAGCAG c.1860
R A Q K K A Q I E E E K K N A E K E K Q p.620
. . . . . . g.73911
CAGAGAAATCAGAAAAAGAAGAAGGATGATGATGATGAGGAGATAGGAGGTCCAAAAGAA c.1920
Q R N Q K K K K D D D D E E I G G P K E p.640
. . | 16. . . . g.79931
GAACTTATTCCAGAGAAACTGGCCAAG | GTTGAAACTCCATTGGAAGAAGCTATTAAATTT c.1980
E L I P E K L A K | V E T P L E E A I K F p.660
. . . . . . g.79991
TTAACACCGTTGAAGAACTTGGTGAAGAACAAGATAGAGACTCATCTTTTTGCCTTTGAG c.2040
L T P L K N L V K N K I E T H L F A F E p.680
. | 17 . . . . . g.82333
ATTTACTTTAGGAAAG | AAAAGTTTCTTTTGATGCTACAATCAGTAAAGAGGGCATTTGCT c.2100
I Y F R K E | K F L L M L Q S V K R A F A p.700
. . . . . | 18 . g.88370
ATTGATTCTAGTCATCCCTGGCTTCATGAGTGTATGATTCGTCTCTTTAATACTG | CAGTG c.2160
I D S S H P W L H E C M I R L F N T A | V p.720
. . . . . . g.88430
TGTGAAAGTAAAGATTTATCTGATACAGTTAGAACAGTATTAAAACAAGAAATGAATCGT c.2220
C E S K D L S D T V R T V L K Q E M N R p.740
. . . . . . g.88490
CTTTTTGGAGCAACGAATCCAAAGAATTTTAATGAAACTTTTCTGAAAAGGAATTCTGAT c.2280
L F G A T N P K N F N E T F L K R N S D p.760
. . | 19 . . . . g.89704
TCATTGCCACACAGATTATCAG | CTGCCAAAATGGTATATTACTTAGATCCTTCTAGTCAG c.2340
S L P H R L S A | A K M V Y Y L D P S S Q p.780
. . . . . . g.89764
AAGCGAGCTATAGAGTTGGCAACAACACTTGATGAATCTCTCACTAACAGAAACCTCCAG c.2400
K R A I E L A T T L D E S L T N R N L Q p.800
| 20 . . . . . . g.91477
| ACATGTATGGAGGTATTGGAAGCCTTGTATGATGGTAGCCTAGGAGACTGTAAAGAAGCT c.2460
| T C M E V L E A L Y D G S L G D C K E A p.820
. . . . . . g.91537
GCTGAAATTTATAGAGCAAATTGTCATAAGCTTTTCCCTTATGCTTTGGCTTTCATGCCT c.2520
A E I Y R A N C H K L F P Y A L A F M P p.840
. . . . . . g.91597
CCTGGATATGAAGAGGATATGAAGATCACAGTTAATGGAGATAGTTCTGCAGAAGCTGAA c.2580
P G Y E E D M K I T V N G D S S A E A E p.860
. . g.91618
GAACTGGCCAATGAAATTTGA c.2601
E L A N E I X p.866
. . . . . . g.91678
acatcactaaacaagcaaatggaatgactttggaccatatctagtatataatatttttgt c.*60
. . . . . . g.91738
cacgcacctgctgcattgctctaacttacacagaatgagaggagtaaatgttcttgcctt c.*120
. . . . . . g.91798
caaatagtgttttacgttttttatcctgctgaaaaagtatatataaaatatctaacatta c.*180
. . . . . . g.91858
caggatagaggttcagtttcttaaaaaattaaagctgctaaaattgagtggttaaaaaag c.*240
. . . . . . g.91918
ataccttatcctattcctccccacccacccatgtttttaaactaatttatataaaatctg c.*300
. . . . . . g.91978
gaggctgttacagctaacaaagcaggtgtgtggcagaaatattactttaaatttgtcttg c.*360
. . . . . . g.92038
tgagattttactatatctcagacagcataaatgctgttttagcactggattctttcactg c.*420
. . . . . . g.92098
agcacaaagagttgttggggctttagcatctgactgattttgttacggggttgattctga c.*480
. . . . . . g.92158
ccataggaagtatgcaatgtgaatcactatttacagagaaacctacaacagatgcttgat c.*540
. . . . . . g.92218
gttgtagaaactgggacatatagataccaagcaaaattataagaaacctataaggtgttc c.*600
. . . . . . g.92278
aatacgcttgtgtttccaaaattcactgtacatgatcagtttggtgttcttgtaccacag c.*660
. . . . . . g.92338
tttttaactgaaggaaccagttgtaacagtctcaattttaactaaaacttgaagaactaa c.*720
. . . . . . g.92398
aacaacaatgcaaacctttcagcattgtttggccaaacttgttaaaactgtaatgcaaga c.*780
. . . . . . g.92458
accaaatgcactgtgatgtggcaccaactaattagcaagcatgaatttttcacccaagag c.*840
. . . . . . g.92518
tgaaaaaaggaaaatctaccatggcttgaagttaaagagcagaactcctgactaccattc c.*900
. . . . . . g.92578
tatgactgatcaaaagactaatagttaaaaacctcagcaggccttgttcacgatatgcag c.*960
. . . . . . g.92638
aaaaaaaagtgctgcagtttagatacctctggaatttttccacagtgtcacaggtttgta c.*1020
. . . . . . g.92698
atacttgaagccctacatttctaagaatatatttcttgctcagttgtttcaggcaagccc c.*1080
. . . . . . g.92758
aagactttgtaatttttaaagggcccaagattttttttttttttttttttttcaaataac c.*1140
. . . . . . g.92818
agaccagcttctttttcttgcagttacagatgtaatttcctttttgttgtcaaacataag c.*1200
. . . . . . g.92878
gtaccaaatatgatgcaataaattgttttgaaaaacagttgtgtgaatatttcaactaat c.*1260
. . . . . . g.92938
ctgtgttgggcttctgtgaaatacacaggtggaaacagaggtgcaagccagaggcaatgt c.*1320
. . . . . . g.92998
aatatgctgtaaggctagtgcagatgggagctttttagaaggggctaagtgctggtgtca c.*1380
. . . . . . g.93058
gggaaattccataatgaagtagaatgctgctcctgcattaagatttcattgagggcaagg c.*1440
. . . . . . g.93118
ctggtggcaggtactatgaatgtaattcataatttaaaaggaaaactaaaaactattttg c.*1500
. . . . . . g.93178
atttgggaaaatgagccttaatttgttaaacctatacactgagaactagcctcaggctta c.*1560
. . . . . . g.93238
atattctcattgcatttgcaagatctgagcaaataagattaagtaaaacaaatcaattgt c.*1620
. . . . . . g.93298
atatataattgacctttttgtggaacatgtagtttatagaaagtatactctaaagggaat c.*1680
. . . . . . g.93358
ttgccgaagaccttttactgattgaacagttgtgctacaatcaacttttcatagtacatg c.*1740
. . . . . . g.93418
acctgcattccacatctcagtctaacagtttagtagtgatgtaaagagaagtacaaaccg c.*1800
. . . . . . g.93478
aactccagtgctttgttatgttttattaactggccctgtctcaggaacatcttaacagat c.*1860
. . . . . . g.93538
ggcaaaaaaacaaaaactttttttcaactcctatgagtggcaactgaagttcttattgtt c.*1920
. . . . . . g.93598
gggaaagaacactagtcctacctctgccactaatgaggtgtttggaggaggtaccagcca c.*1980
. . . . . . g.93658
tataatagggggtgtatgtgtgaattttgtttaaactctactgtatattgaaatgaaatt c.*2040
. . . . . . g.93718
catttatttgtcttgacaatgttcaaatgatgtagattgtcttagaatgaatattcataa c.*2100
. . . . . . g.93778
gtactcagaactcttaagatgcagatgccacccgtgaggagctaaattcctaatgtgtat c.*2160
. . . . . . g.93838
tgtattccaacccaattttactggaactattgaataaatcttttattttctttcaggttt c.*2220
. . . . . . g.93898
acttgatagtggatacattggtgtcagaggaccttgactgggttcattttatgtccagac c.*2280
. . . . . . g.93958
atcacccctgaaacactgtactgtactatcttgctctgagtagtatcaactggatcgtct c.*2340
. . . . . . g.94018
catatttgcctcattcatcctattaatttcaaatgatactgtgggggaaaaacagggtta c.*2400
. . . . . . g.94078
gaaaaacaagtggaaaaaatggagtgatgttgtaatctaaacaagtgccttatgtttatt c.*2460
. . . . . . g.94138
gctaagaactggtgttaccaacccttttgagaagaaagggtctcttgacctgtattaaca c.*2520
. . . . . . g.94198
taggaaagtaaagttctttttgtttttctttatattcagctactcttgtcatttctcgtt c.*2580
. . . . . . g.94258
gaaaaactaaaatctgactaggttagtttactcagctttaattagatagttgagtcatat c.*2640
. . . . . g.94315
attttcaacatttttctgtatcgtatttattatgcacaaaaataaagtgtgatctct c.*2697
(downstream sequence)
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