(used for variant description)
(last modified September 27, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_173521.3 in the C9orf84 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering C9orf84 transcript NM_173521.3.
(upstream sequence)
. g.5015
aattctaaagaagaa c.-121
. . . . . . g.5075
agtgcttcaagaaggaagtagtagtccaatgtgttgggctcctgttaaaagctcaagtta c.-61
. . . . | 02 . . g.7505
tgtgaggatagtgagttgaccattagcttgactaaat | tctcagctgtttcagttccggga c.-1
. . . . . . g.7565
ATGACAGATACCTCAGTCTTGGACCAATGGAAAGCAAGTTTCTTTGTGGAGGATTTCCTT c.60
M T D T S V L D Q W K A S F F V E D F L p.20
| 03 . . . . . . g.12579
GAGAA | AAAAACAATTACAAGAATGGTGACCCAGATTAATTGTGAATTTGAGGAAGTTGTT c.120
E K | K T I T R M V T Q I N C E F E E V V p.40
. . . . . . g.12639
CCAAGTTCAAATCCAGACTCCCAAATTGAAGTAGAGGAGGTCAGTTTATACACCCACATG c.180
P S S N P D S Q I E V E E V S L Y T H M p.60
. . . . . . g.12699
GACTACAATGAAGTCTTTACCCCTGTCAGTTGTTTAGAAAAATGTTCAGCACTTCAAAAC c.240
D Y N E V F T P V S C L E K C S A L Q N p.80
. | 04 . . . . . g.29701
CAGAACCAAG | ATTTATTTATTGATGATAAAGGAATACTTTTTGTAAGTAGTAGAAAACAC c.300
Q N Q D | L F I D D K G I L F V S S R K H p.100
. . . . . . g.29761
CTACCAACTTTGCCTACTCTCTTGAGTAGACTAAAACTGTTTTTGGTAAAGGATCCTCTT c.360
L P T L P T L L S R L K L F L V K D P L p.120
. . . . | 05 . . g.30320
TTAGATTTCAAAGGACAGATCTTCACAGAAGCTAATTTTTCCAG | GGAATGTTTCTCTCTT c.420
L D F K G Q I F T E A N F S R | E C F S L p.140
. . . . . . g.30380
CAAGAAACTTTGGAAGCTTTTGTGAAAGAAGATTTTTGTATGGATAAAGTGAACTTTTGT c.480
Q E T L E A F V K E D F C M D K V N F C p.160
. . . | 06 . . . g.32045
CAAGAGAAACTAGAAGATACAATATGTTTAAATGAG | CCGTCAAGTTTTCTTATTGAGTAT c.540
Q E K L E D T I C L N E | P S S F L I E Y p.180
. . . . . . g.32105
GAATTCTTAATACCTCCAAGCCTCAAACCAGAAATTGATATTCCATCACTCTCAGAACTG c.600
E F L I P P S L K P E I D I P S L S E L p.200
. . . . . . g.32165
AAGGAGTTATTAAACCCAGTGCCAGAAATAATAAACTATGTAGATGAAAAGGAAAAGCTT c.660
K E L L N P V P E I I N Y V D E K E K L p.220
. | 07 . . . . . g.40350
TTTGAAAGAG | ATCTTACTAACAAGCATGGAATTGAGGATATCGGGGATATAAAATTCAGC c.720
F E R D | L T N K H G I E D I G D I K F S p.240
. . . . . | 08 g.42159
TCCACAGAGATTTTGACCATTCAAAGCCAGAGTGAACCAGAAGAGTGCAGTAAACCAG | GA c.780
S T E I L T I Q S Q S E P E E C S K P G | p.260
. . . . . . g.42219
GAGTTAGAAATGCCACTAACTCCTCTATTCCTAACATGCCAACATTCTTCAGTGAATTCA c.840
E L E M P L T P L F L T C Q H S S V N S p.280
. . . . | 09. . g.46942
TTACGTACAGAACTTCAGACATTTCCATTATCTCCGGTTTGTAAAAT | TAATTTGCTTACT c.900
L R T E L Q T F P L S P V C K I | N L L T p.300
. . . . . . g.47002
GCTGAAGAATCAGCTAATGAATACTACATGATGTGGCAATTAGAAAGATGTAGAAGCCCT c.960
A E E S A N E Y Y M M W Q L E R C R S P p.320
. . | 10 . . . . g.50015
TTGAACCCATTTTTGCTTACAG | TGCCAAGAATTCAAGAGCCCCACAGCCAATATTCAGTT c.1020
L N P F L L T V | P R I Q E P H S Q Y S V p.340
. . . . . . g.50075
ACAGATTTGAAAAAGATATTTTCTGTTAAAGAAGAAAGCCTTGTGATTAATCTGGAAAAG c.1080
T D L K K I F S V K E E S L V I N L E K p.360
. . . . . . g.50135
GCAGAGTGGTGGAAACAAGCAGGACTAAATCTGAAAATGATGGAAACATTGGAACATCTG c.1140
A E W W K Q A G L N L K M M E T L E H L p.380
. . . . . . g.50195
AATACATATTTATGTCATGATAATTTGTCTTCTAATGACACTAAAATTGAGATATTTTTG c.1200
N T Y L C H D N L S S N D T K I E I F L p.400
. . | 11 . . . . g.60485
CCTACGAAAGTGCTTCAATTAGAAT | CATGTCTAGAACATAAAAGTCATTCTTCACCTATT c.1260
P T K V L Q L E S | C L E H K S H S S P I p.420
. . . . . . g.60545
GCACTTATTGATGAAAAATCTACAAATGCTCATTTATCACTTCCACAAAAGAGTCCATCT c.1320
A L I D E K S T N A H L S L P Q K S P S p.440
. . . . . . g.60605
CTGGCAAAAGAAGTACCAGATCTATGTTTTTCTGATGACTATTTCTCTGATAAAGGAGCA c.1380
L A K E V P D L C F S D D Y F S D K G A p.460
. . . . . . g.60665
GCAAAAGAAGAAAAACCAAAGAATGACCAAGAACCAGTAAACAGAATAATCCAAAAGAAA c.1440
A K E E K P K N D Q E P V N R I I Q K K p.480
. . . . . . g.60725
GAAAATAACGATCACTTTGAACTTGACTGCACAGGACCATCTATTAAATCACCTTCCTCT c.1500
E N N D H F E L D C T G P S I K S P S S p.500
. . . . . . g.60785
TCAATAATTAAAAAAGCATCTTTTGAACATGGCAAAAAACAAGAGAATGATTTGGACCTT c.1560
S I I K K A S F E H G K K Q E N D L D L p.520
. . . . . . g.60845
TTGAGCGACTTTATTATGCTGCGAAATAAATATAAGACTTGCACCTCAAAGACTGAAGTC c.1620
L S D F I M L R N K Y K T C T S K T E V p.540
. . | 12 . . . . g.64626
ACAAACAGTGATGAAAAACATG | ATAAAGAAGCATGTTCTTTGACACTTCAAGAAGAAAGT c.1680
T N S D E K H D | K E A C S L T L Q E E S p.560
. . . . . . g.64686
CCTATTGTTCATATTAATAAAACCCTGGAGGAAATAAATCAGGAAAGGGGAACAGATAGT c.1740
P I V H I N K T L E E I N Q E R G T D S p.580
. . | 13 . . . . g.65952
GTCATTGAAATTCAAGCGTCAG | ATAGCCAGTGCCAAGCATTTTGCCTCCTCGAAGCAGCA c.1800
V I E I Q A S D | S Q C Q A F C L L E A A p.600
. . . . . . g.66012
GCTTCTCCTATCTTAAAAAACCTTGTATCCTTGTGTACCCTCCCTACTGCTAATTGGAAA c.1860
A S P I L K N L V S L C T L P T A N W K p.620
. . . . . . g.66072
TTTGCCACTGTTATTTTTGACCAAACAAGGTTTCTCTTAAAGGAACAAGAAAAAGTAGTA c.1920
F A T V I F D Q T R F L L K E Q E K V V p.640
. | 14 . . . . g.70252
AGTGATGCTGTTCGCCAAG | GTACAATTGATGAAAGAGAAATGACTTTCAAGCATGCCGCT c.1980
S D A V R Q G | T I D E R E M T F K H A A p.660
. . . . . . g.70312
CTCTTACATCTTCTGGTAACAATTAGAGATGTCCTTTTAACATGCAGCTTGGACACAGCA c.2040
L L H L L V T I R D V L L T C S L D T A p.680
| 15 . . . . . . g.73932
TTGG | GATATTTGTCGAAGGCAAAAGATATCTACAACAGCATTTTAGGCCCCTATTTGGGT c.2100
L G | Y L S K A K D I Y N S I L G P Y L G p.700
. . . . . . g.73992
GACATTTGGAGACAGCTGGAGATTGTACAGTTTATTAGGGGGAAAAAGCCTGAAACCAAC c.2160
D I W R Q L E I V Q F I R G K K P E T N p.720
. . . . . . g.74052
TACAAGATACAAGAATTGCAATGTCAGATACTAAGTTGGATGCAAAGTCAACAGCAAATT c.2220
Y K I Q E L Q C Q I L S W M Q S Q Q Q I p.740
| 16 . . . . . . g.75384
AAG | GTACTGATTATAATAAGAATGGACTCAGACGGTGAAAAACATTTTCTCATTAAAATT c.2280
K | V L I I I R M D S D G E K H F L I K I p.760
. | 17 . . . . . g.80619
CTTAACAAAATAGAAG | GTTTAACACTGACTGTCCTTCATTCAAATGAAAGAAAAGATTTT c.2340
L N K I E G | L T L T V L H S N E R K D F p.780
. . | 18 . . . . g.81787
CTGGAATCTGAAGGTGTTTTAAGGGG | TACAAGTTCCTGTGTAGTTGTACATAATCAATAT c.2400
L E S E G V L R G | T S S C V V V H N Q Y p.800
. . . . . . g.81847
ATTGGAGCAGATTTCCCCTGGAGTAATTTCTCATTTGTGGTGGAATACAATTATGTGGAA c.2460
I G A D F P W S N F S F V V E Y N Y V E p.820
. . . . . . g.81907
GACTCTTGTTGGACTAAACACTGCAAAGAGTTGAATATTCCTTACATGGCCTTTAAAGTG c.2520
D S C W T K H C K E L N I P Y M A F K V p.840
. . | 19 . . . . g.83170
ATTCTTCCAGACACAGTTTTAGAAA | GAAGCACCTTGCTGGATAGATTTGGAGGTTTTCTT c.2580
I L P D T V L E R | S T L L D R F G G F L p.860
. . . . . . g.83230
TTGGAAATTCAGATTCCATATGTGTTTTTTGCATCTGAAGGACTTCTTAATACTCCAGAC c.2640
L E I Q I P Y V F F A S E G L L N T P D p.880
. . | 20 . . . . g.84544
ATACTTCAGCTGCTAGAATCCAA | CTATAACATCTCACTAGTAGAGAGAGGCTGCAGTGAG c.2700
I L Q L L E S N | Y N I S L V E R G C S E p.900
. . . . . . g.84604
TCATTGAAACTCTTTGGAAGTTCAGAGTGTTATGTAGTGGTGACAATTGATGAACACACT c.2760
S L K L F G S S E C Y V V V T I D E H T p.920
. | 21 . . . . . g.86318
GCCATAATTTTGCAG | GATCTAGAAGAATTGAATTATGAGAAGGCATCAGACAATATCATT c.2820
A I I L Q | D L E E L N Y E K A S D N I I p.940
. . . . . . g.86378
ATGAGGCTGATGGCATTATCATTACAGTACAGATATTGTTGGATAATTTTATATACCAAA c.2880
M R L M A L S L Q Y R Y C W I I L Y T K p.960
. | 22. . . . . g.88495
GAAACATTAAATTCAGA | GTATCTGCTTACAGAAAAGACACTTCATCACCTAGCACTGATT c.2940
E T L N S E | Y L L T E K T L H H L A L I p.980
. . . . . | 23 . g.94146
TATGCAGCTTTGGTTTCATTTGGGCTAAACTCTGAAGAACTGGATGTAAAG | CTTATAATT c.3000
Y A A L V S F G L N S E E L D V K | L I I p.1000
. . . . . . g.94206
GCCCCAGGAGTAGAAGCAACTGCCTTGATAATTCGACAAATTGCTGACCACAGTTTAATG c.3060
A P G V E A T A L I I R Q I A D H S L M p.1020
. . . . . . g.94266
ACCTCAAAGAGAGATCCTCATGAATGGTTGGATAAATCCTGGCTTAAAGTTTCACCATCT c.3120
T S K R D P H E W L D K S W L K V S P S p.1040
| 24 . . . . . . g.94608
GAG | GAAGAAATGTACTTACTTGATTTTCCATGTATTAACCCATTGGTGGCTCAGCTCATG c.3180
E | E E M Y L L D F P C I N P L V A Q L M p.1060
. . . . . . g.94668
CTAAATAAAGGACCTTCACTGCATTGGATATTATTAGCAACTCTGTGTCAACTTCAGGAA c.3240
L N K G P S L H W I L L A T L C Q L Q E p.1080
. . . | 25 . . . g.96015
CTCCTACCTGAAGTCCCAGAAAAAGTGTTAAAG | CATTTTTGTAGCATCACTTCCCTATTC c.3300
L L P E V P E K V L K | H F C S I T S L F p.1100
. . . . . . g.96075
AAGATTGGTTCTTCTTCCATAACAAAATCACCGCAAATTTCGTCACCTCAGGAAAATAGG c.3360
K I G S S S I T K S P Q I S S P Q E N R p.1120
. . . . . . g.96135
AATCAGATTAGTACCTTGTCTTCTCAAAGTTCAGCTTCTGATTTAGACTCTGTCATTCAA c.3420
N Q I S T L S S Q S S A S D L D S V I Q p.1140
. . . . . . g.96195
GAACATAATGAATATTATCAGTATTTAGGATTAGGAGAGACAGTGCAGGAAGACAAAACC c.3480
E H N E Y Y Q Y L G L G E T V Q E D K T p.1160
. . . . . . g.96255
ACCATTTTGAATGACAACTCTTCCATTATGGAACTAAAAGAAATCTCAAGTTTTTTACCA c.3540
T I L N D N S S I M E L K E I S S F L P p.1180
. . . . . . g.96315
CCTGTGACTTCATACAATCAGACCAGCTACTGGAAAGACTCCAGCTGTAAATCTAATATA c.3600
P V T S Y N Q T S Y W K D S S C K S N I p.1200
. . . . . . g.96375
GGGCAGAATACTCCTTTTCTAATTAATATAGAATCAAGGAGACCGGCTTATAACTCCTTT c.3660
G Q N T P F L I N I E S R R P A Y N S F p.1220
. . . . . . g.96435
CTAAACCACAGTGATTCAGAGTCAGATGTCTTTTCTTTGGGTCTAACACAAATGAACTGT c.3720
L N H S D S E S D V F S L G L T Q M N C p.1240
. . . . . . g.96495
GAAACTATAAAATCACCAACTGACACTCAGAAGAGAGTGTCAGTTGTCCCCCGTTTTATA c.3780
E T I K S P T D T Q K R V S V V P R F I p.1260
. . . . . . g.96555
AATTCTCAGAAAAGGAGAACACATGAAGCAAAAGGTTTCATAAATAAAGATGTATCGGAC c.3840
N S Q K R R T H E A K G F I N K D V S D p.1280
. . . . . . g.96615
CCTATCTTTTCACTAGAGGGCACTCAATCTCCTCTTCATTGGAACTTTAAGAAAAATATA c.3900
P I F S L E G T Q S P L H W N F K K N I p.1300
. . . . . . g.96675
TGGGAACAAGAGAATCACCCGTTCAACTTACAATATGGTGCACAGCAGACTGCATGTAAC c.3960
W E Q E N H P F N L Q Y G A Q Q T A C N p.1320
. . . . . . g.96735
AAATTGTACTCTCAGAAAGGTAATTTATTCACTGATCAGCAAAAATGTCTATCAGATGAG c.4020
K L Y S Q K G N L F T D Q Q K C L S D E p.1340
. . . . . . g.96795
TCTGAAGGCCTCACATGTGAAAGTTCAAAAGATGAGACTTTCTGGAGAGAATTACCATCT c.4080
S E G L T C E S S K D E T F W R E L P S p.1360
. . . . . . g.96855
GTCCCCAGTTTGGATTTATTTCGTGCTTCTGATTCTAATGCAAATCAAAAAGAATTCAAC c.4140
V P S L D L F R A S D S N A N Q K E F N p.1380
. . . . . . g.96915
AGCCTTTATTTCTACCAAAGAGCTGGAAAAAGTTTAGGACAGAAAAGGCACCATGAATCT c.4200
S L Y F Y Q R A G K S L G Q K R H H E S p.1400
. . . | 26 . . . g.101655
TCATTTAACTCAGGAGACAAGGAATCATTAACAG | GTTTTATGTGCTCACAACTACCACAA c.4260
S F N S G D K E S L T G | F M C S Q L P Q p.1420
. . . . . . g.101715
TTCAAAAAACGACGTCTAGCATATGAAAAAGTCCCTGGTAGAGTTGATGGGCAGACTCGG c.4320
F K K R R L A Y E K V P G R V D G Q T R p.1440
. g.101730
CTGAGGTTTTTTTGA c.4335
L R F F X p.1444
. . . . . . g.101790
aggaggagaagagcaatgttacatgccatattccactgtttttgatgctaatccactagc c.*60
. . . . . . g.101850
gcaattatttagatttgctcatacactaaagaaaacacaattgttcatatatgtctcagt c.*120
. . g.101879
atttctgtattaaatattcataatatgta c.*149
(downstream sequence)
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