(used for variant description)
(last modified August 28, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_025139.4 in the ARMC9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering ARMC9 transcript NM_025139.4.
(upstream sequence)
. . . . g.5040
gcgcgattggctgcgccgcccccacgtgacgccggggtgg c.-121
. . . . . . g.5100
cggcggcggttgcccgggtgacggctgcggaggtggcggccgggctgggatagcgcgagt c.-61
. . | 02 . . . g.12658
gtccgcggccgagcagcag | agatttttgctgtgagaattaattaccagtaacagttcaat c.-1
. . . . . | 03 . g.14555
ATGGGGGACATTCTGGCTCATGAATCTGAATTACTTGGACTAGTGAAAGAG | TATTTAGAT c.60
M G D I L A H E S E L L G L V K E | Y L D p.20
. . . . . . g.14615
TTTGCTGAATTTGAAGACACCTTGAAAACATTTTCAAAAGAATGCAAAATAAAAGGAAAA c.120
F A E F E D T L K T F S K E C K I K G K p.40
. . . . . | 04. g.21253
CCATTGTGTAAAACAGTAGGCGGATCTTTCAGAGACTCCAAATCATTGACAATTCAG | AAG c.180
P L C K T V G G S F R D S K S L T I Q | K p.60
. . . . . . g.21313
GATCTTGTCGCTGCATTTGACAACGGAGACCAGAAGGTGTTCTTCGATCTGTGGGAGGAG c.240
D L V A A F D N G D Q K V F F D L W E E p.80
. . . . . . g.21373
CACATTTCAAGTTCCATCCGAGATGGGGACTCCTTTGCCCAGAAGCTGGAATTCTATCTC c.300
H I S S S I R D G D S F A Q K L E F Y L p.100
. . . . | 05 . g.23069
CACATCCATTTTGCCATCTATCTTTTGAAGTACTCTGTGGGGAGACCG | GACAAAGAGGAG c.360
H I H F A I Y L L K Y S V G R P | D K E E p.120
. . . . . . g.23129
CTGGATGAAAAGATTTCCTACTTCAAAACCTACCTGGAGACCAAAGGGGCAGCCTTGAGC c.420
L D E K I S Y F K T Y L E T K G A A L S p.140
. . . . . . g.23189
CAGACCACAGAGTTTCTTCCTTTCTATGCCCTTCCTTTTGTTCCCAACCCTATGGTGCAC c.480
Q T T E F L P F Y A L P F V P N P M V H p.160
. . | 06 . . . . g.29183
CCCTCATTTAAAGAACTCTTCCAG | GATTCCTGGACTCCAGAGTTAAAGTTGAAGTTGATA c.540
P S F K E L F Q | D S W T P E L K L K L I p.180
. . . . . | 07. g.33196
AAGTTTCTAGCTTTAATATCTAAAGCCAGCAACACGCCAAAGCTTTTAACAATATAT | AAG c.600
K F L A L I S K A S N T P K L L T I Y | K p.200
. . | 08 . . . . g.41681
GAGAATGGACAAAGTAACAAAG | AAATCTTGCAGCAGCTCCACCAGCAGCTGGTTGAAGCT c.660
E N G Q S N K E | I L Q Q L H Q Q L V E A p.220
. . . . . . g.41741
GAACGTAGGTCAGTGACATACCTCAAACGGTACAATAAGATCCAGGCCGACTACCACAAT c.720
E R R S V T Y L K R Y N K I Q A D Y H N p.240
. . . . . . g.41801
CTCATTGGAGTCACAGCAGAGCTGGTGGATTCTCTAGAGGCCACAGTCAGCGGCAAGATG c.780
L I G V T A E L V D S L E A T V S G K M p.260
| 09 . . . . . . g.46422
| ATCACCCCTGAGTACCTCCAGAGCGTCTGTGTCCGCCTGTTCAGTAACCAGATGCGGCAG c.840
| I T P E Y L Q S V C V R L F S N Q M R Q p.280
. . . | 10 . . g.63026
AGCCTGGCGCATAGTGTGGACTTCACGAGGCCTGGGACG | GCATCCACCATGTTACGAGCC c.900
S L A H S V D F T R P G T | A S T M L R A p.300
. | 11 . . . . . g.65456
TCCTTGGCACCCGT | GAAATTGAAGGATGTCCCATTACTGCCCTCCTTGGATTATGAGAAA c.960
S L A P V | K L K D V P L L P S L D Y E K p.320
. . . . . . g.65516
CTGAAGAAGGATTTGATTTTGGGGAGTGACCGCTTGAAAGCCTTCTTGTTGCAGGCTCTG c.1020
L K K D L I L G S D R L K A F L L Q A L p.340
| 12 . . . . . . g.68779
CGCTGG | CGCTTGACCACATCCCATCCTGGAGAGCAGAGGGAGACCGTTCTGCAAGCCTAC c.1080
R W | R L T T S H P G E Q R E T V L Q A Y p.360
. . . | 13 . . g.77422
ATCAGCAATGACCTCTTGGACTGTTATAGCCACAACCAG | AGGAGTGTGCTTCAGTTGCTG c.1140
I S N D L L D C Y S H N Q | R S V L Q L L p.380
. . . . . . g.77482
CACTCCACGAGCGACGTGGTGCGGCAGTACATGGCCAGGCTCATCAATGCTTTTGCGTCA c.1200
H S T S D V V R Q Y M A R L I N A F A S p.400
. | 14 . . . . . g.79424
CTGGCAGAAG | GTCGCCTCTACCTTGCCCAGAACACAAAGGTGCTGCAGATGCTGGAGGGA c.1260
L A E G | R L Y L A Q N T K V L Q M L E G p.420
. . . . . . g.79484
AGGCTGAAGGAGGAGGACAAGGATATCATCACCAGGGAGAATGTTCTTGGGGCCCTGCAG c.1320
R L K E E D K D I I T R E N V L G A L Q p.440
. | 15 . . . . . g.83101
AAGTTCAGTCTCAG | GCGCCCGCTGCAGACAGCGATGATTCAAGACGGCCTCATCTTCTGG c.1380
K F S L R | R P L Q T A M I Q D G L I F W p.460
. . . . . . g.83161
CTGGTTGATGTTCTGAAGGACCCTGACTGCCTGTCTGACTACACGCTGGAGTACTCGGTG c.1440
L V D V L K D P D C L S D Y T L E Y S V p.480
. . . | 16 . . . g.84827
GCTTTGCTCATGAACCTCTGCCTCCGCAGCACAG | GGAAGAACATGTGTGCCAAGGTGGCA c.1500
A L L M N L C L R S T G | K N M C A K V A p.500
. . . . . | 17 . g.88487
GGCCTCGTGCTCAAAGTCCTTTCGGATCTTCTTGGCCATGAAAACCATGAG | ATACAGCCG c.1560
G L V L K V L S D L L G H E N H E | I Q P p.520
. . . . . . g.88547
TATGTGAATGGAGCTCTGTACAGCATCCTTTCTGTTCCATCCATTCGTGAGGAAGCAAGA c.1620
Y V N G A L Y S I L S V P S I R E E A R p.540
| 18 . . . . . . g.97826
GCAATG | GGAATGGAAGACATCCTACGCTGCTTCATCAAAGAAGGCAATGCTGAAATGATC c.1680
A M | G M E D I L R C F I K E G N A E M I p.560
. . . | 19. . . g.102640
CGCCAGATAGAATTCATCATCAAGCAGCTAAATTCCG | AAGAGCTACCAGATGGTGTTCTT c.1740
R Q I E F I I K Q L N S E | E L P D G V L p.580
. . . | 20 . . . g.138238
GAATCTGATGATGATGAAGATGAAGATGATGAA | GAGGACCATGACATCATGGAAGCCGAT c.1800
E S D D D E D E D D E | E D H D I M E A D p.600
. . . . . . g.138298
CTGGACAAAGACGAACTGATCCAGCCCCAGCTCGGAGAACTCTCAGGAGAGAAGCTTCTG c.1860
L D K D E L I Q P Q L G E L S G E K L L p.620
. | 21 . . . . g.151435
ACCACGGAGTACCTGGGG | ATCATGACCAACACGGGGAAGACAAGGCGGAAGGGGCTGGCT c.1920
T T E Y L G | I M T N T G K T R R K G L A p.640
. . . . . . g.151495
AATGTGCAGTGGAGCGGGGATGAGCCCCTGCAAAGGCCCGTCACCCCCGGCGGCCACAGA c.1980
N V Q W S G D E P L Q R P V T P G G H R p.660
. g.151513
AACGGGTACCCAGTGTAA c.1998
N G Y P V X p.665
. . . . . . g.151573
gtcagggctaaaggaagcgggaattgactttcttaagctttgttttgattacagtgtaag c.*60
. . . . g.151618
atgtatgtatttttaaaattcaaaataaagcattcattttgaaaa c.*105
(downstream sequence)
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