(used for variant description)
(last modified September 30, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_198150.2 in the ARSK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering ARSK transcript NM_198150.2.
(upstream sequence)
. . . g.5038
aggagttgtagttctgcgggtgaagctcggcgttacta c.-121
. . . . . . g.5098
tcaagcaaccaaactgcaagctttgggagttgttcgctgtccctgccctgctctgctagg c.-61
. . . . . . g.5158
gagagaacgccagagggaggcggctggcccggcggcaggctctcagaaccgctaccggcg c.-1
. . . . . . g.5218
ATGCTACTGCTGTGGGTGTCGGTGGTCGCAGCCTTGGCGCTGGCGGTACTGGCCCCCGGA c.60
M L L L W V S V V A A L A L A V L A P G p.20
. . . . . . g.5278
GCAGGGGAGCAGAGGCGGAGAGCAGCCAAAGCGCCCAATGTGGTGCTGGTCGTGAGCGAC c.120
A G E Q R R R A A K A P N V V L V V S D p.40
| 02 . . . . . . g.15931
TCCTTC | GATGGAAGGTTAACATTTCATCCAGGAAGTCAGGTAGTGAAACTTCCTTTTATC c.180
S F | D G R L T F H P G S Q V V K L P F I p.60
. . . . . . g.15991
AACTTTATGAAGACACGTGGGACTTCCTTTCTGAATGCCTACACAAACTCTCCAATTTGT c.240
N F M K T R G T S F L N A Y T N S P I C p.80
. | 03 . . . . . g.17813
TGCCCATCACGCGCAG | CAATGTGGAGTGGCCTCTTCACTCACTTAACAGAATCTTGGAAT c.300
C P S R A A | M W S G L F T H L T E S W N p.100
. . . . . . g.17873
AATTTTAAGGGTCTAGATCCAAATTATACAACATGGATGGATGTCATGGAGAGGCATGGC c.360
N F K G L D P N Y T T W M D V M E R H G p.120
. . . . . | 04 . g.32799
TACCGAACACAGAAATTTGGGAAACTGGACTATACTTCAGGACATCACTCCATTAG | TAAT c.420
Y R T Q K F G K L D Y T S G H H S I S | N p.140
. . . . . . g.32859
CGTGTGGAAGCGTGGACAAGAGATGTTGCTTTCTTACTCAGACAAGAAGGCAGGCCCATG c.480
R V E A W T R D V A F L L R Q E G R P M p.160
. . . . . . g.32919
GTTAATCTTATCCGTAACAGGACTAAAGTCAGAGTGATGGAAAGGGATTGGCAGAATACA c.540
V N L I R N R T K V R V M E R D W Q N T p.180
. . . . . . g.32979
GACAAAGCAGTAAACTGGTTAAGAAAGGAAGCAATTAATTACACTGAACCATTTGTTATT c.600
D K A V N W L R K E A I N Y T E P F V I p.200
. . . . . . g.33039
TACTTGGGATTAAATTTACCACACCCTTACCCTTCACCATCTTCTGGAGAAAATTTTGGA c.660
Y L G L N L P H P Y P S P S S G E N F G p.220
. . . | 05 . . g.36462
TCTTCAACATTTCACACATCTCTTTATTGGCTTGAAAAA | GTGTCTCATGATGCCATCAAA c.720
S S T F H T S L Y W L E K | V S H D A I K p.240
. . . . . . g.36522
ATCCCAAAGTGGTCACCTTTGTCAGAAATGCACCCTGTAGATTATTACTCTTCTTATACA c.780
I P K W S P L S E M H P V D Y Y S S Y T p.260
. . . . . . g.36582
AAAAACTGCACTGGAAGATTTACAAAAAAAGAAATTAAGAATATTAGAGCATTTTATTAT c.840
K N C T G R F T K K E I K N I R A F Y Y p.280
. . . | 06 . . . g.41309
GCTATGTGTGCTGAGACAGATGCCATGCTTG | GTGAAATTATTTTGGCCCTTCATCAATTA c.900
A M C A E T D A M L G | E I I L A L H Q L p.300
. . . . . . g.41369
GATCTTCTTCAGAAAACTATTGTCATATACTCCTCAGACCATGGAGAGCTGGCCATGGAA c.960
D L L Q K T I V I Y S S D H G E L A M E p.320
. . . . . . g.41429
CATCGACAGTTTTATAAAATGAGCATGTACGAGGCTAGTGCACATGTTCCGCTTTTGATG c.1020
H R Q F Y K M S M Y E A S A H V P L L M p.340
. . . . . . g.41489
ATGGGACCAGGAATTAAAGCCGGCCTACAAGTATCAAATGTGGTTTCTCTTGTGGATATT c.1080
M G P G I K A G L Q V S N V V S L V D I p.360
. | 07 . . . . . g.50770
TACCCTACCATGCTTG | ATATTGCTGGAATTCCTCTGCCTCAGAACCTGAGTGGATACTCT c.1140
Y P T M L D | I A G I P L P Q N L S G Y S p.380
. . . . . . g.50830
TTGTTGCCGTTATCATCAGAAACATTTAAGAATGAACATAAAGTCAAAAACCTGCATCCA c.1200
L L P L S S E T F K N E H K V K N L H P p.400
. . . . . . g.50890
CCCTGGATTCTGAGTGAATTCCATGGATGTAATGTGAATGCCTCCACCTACATGCTTCGA c.1260
P W I L S E F H G C N V N A S T Y M L R p.420
. . . . . . g.50950
ACTAACCACTGGAAATATATAGCCTATTCGGATGGTGCATCAATATTGCCTCAACTCTTT c.1320
T N H W K Y I A Y S D G A S I L P Q L F p.440
| 08 . . . . . . g.53175
G | ATCTTTCCTCGGATCCAGATGAATTAACAAATGTTGCTGTAAAATTTCCAGAAATTACT c.1380
D | L S S D P D E L T N V A V K F P E I T p.460
. . . . . . g.53235
TATTCTTTGGATCAGAAGCTTCATTCCATTATAAACTACCCTAAAGTTTCTGCTTCTGTC c.1440
Y S L D Q K L H S I I N Y P K V S A S V p.480
. . . . . . g.53295
CACCAGTATAATAAAGAGCAGTTTATCAAGTGGAAACAAAGTATAGGACAGAATTATTCA c.1500
H Q Y N K E Q F I K W K Q S I G Q N Y S p.500
. . . . . . g.53355
AACGTTATAGCAAATCTTAGGTGGCACCAAGACTGGCAGAAGGAACCAAGGAAGTATGAA c.1560
N V I A N L R W H Q D W Q K E P R K Y E p.520
. . . . . g.53406
AATGCAATTGATCAGTGGCTTAAAACCCATATGAATCCAAGAGCAGTTTGA c.1611
N A I D Q W L K T H M N P R A V X p.536
. . . . . . g.53466
acaaaaagtttaaaaatagtgttctagagatacatataaatatattacaagatcataatt c.*60
. . . . . . g.53526
atgtattttaaatgaaacagttttaataattaccaagttttggccgggcacagtggctca c.*120
. . . . . . g.53586
cacctgtaatcccaggactttgggaggctgaggaaagcagatcacaaggtcaagagattg c.*180
. . . . . . g.53646
agaccatcctggccaacatggtgaaaccctgtctctactaaaaatacaaaaattagctgg c.*240
. . . . . . g.53706
gcgcggtggtgcacacctatagtctcagctactcagaggctgaggcaggaggatcgcttg c.*300
. . . . . . g.53766
aacccgggaggcagcagttgcagtgagctgagattgcgccactgtactccagcctggcaa c.*360
. . . . . . g.53826
cagagtgagactgtgtcgcaaaaaaataaaaataaaataataataattaccaatttttca c.*420
. . . . . . g.53886
ttattttgtaagaatgtagtgtattttaagataaaatgccaatgattataaaatcacata c.*480
. . . . . . g.53946
ttttcaaaaatggttattatttaggcctttgtacaatttctaacaatttagtggaagtat c.*540
. . . . . . g.54006
caaaagaattgaagcaaatactgtaacagttatgttcctttaaataatagagaatataaa c.*600
. . . . . . g.54066
atattgtaataatatgtatcataaaatagttgtatgtgagcatttgatggtgctcgatga c.*660
. . . . . . g.54126
gttacttgtatttgatgggattgtttggatgtatttaatgggagtatttggagtatttaa c.*720
. . . . . . g.54186
cgggatgtaaaccctggatgtacctgattttgttactgttttattttaataggtaatata c.*780
. . . . . . g.54246
tatacagggtaaaagcttcaaatggtacaaaagggttaacagtgatcgtgaagtctctgt c.*840
. . . . . . g.54306
cctttccctcttccctgccatccagttccccctccaagaagcaagtaccgaaaccacctg c.*900
. . . . . . g.54366
cttacgcatttttagagattggccacaaatttataaacaaatgtatatattcctttcccc c.*960
. . . . . . g.54426
ctacacaaacggtaacatactgcacacattgttctgcatgttgcttctttttcctttttt c.*1020
. . . . . . g.54486
ttttcacttaacagtagatatctagaggtgaaattactgagtcaagactatatttagcaa c.*1080
. . . . . . g.54546
aattacactagatactacaaattacctctaaagaaggtatactaactgataatctcacca c.*1140
. . . . . . g.54606
tcaatgcatgtcttcttatcctttgccaacctaacagataaaaatgttctatttttattt c.*1200
. . . . . . g.54666
ttctttttatgagtaacgtagagcatattttcatgtatttaacagccactggaatctgct c.*1260
. . . . . . g.54726
ttaccatggcctttcctatttctattctttgcctatttttctgttggttgttggtctttg c.*1320
. . . . . . g.54786
ttttgtattacaggtgtgctttagatattagctttttgtaagagatcctgcaaatatctt c.*1380
. . . . . . g.54846
ctttccagtttgtcattgtcatttgtcttttgactttgttctggtattttttgatatgta c.*1440
. . . . . . g.54906
gaaatttttattttcatgtaagcaaatttatgaatctttgtacaccataagtatatacaa c.*1500
. . . . . . g.54966
ttatgatttgtcaattaaaaatattagtacaaaatttacagatctttgcttttgtggctt c.*1560
. g.54982
ttgggattttgtatca c.*1576
(downstream sequence)
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