(used for variant description)
(last modified March 18, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_020919.3 in the ALS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008775.1, covering ALS2 transcript NM_020919.3.
(upstream sequence)
. . . . . g.5056
gatagctccgccctaaactaagggagagactgtgctcccaagtacgtagcctgcag c.-301
. . . . . . g.5116
tgcctaacgcattctcagcaattttgacccccaacagacgccgtcgacagtctcccaaga c.-241
. . . . . . g.5176
acaattcccaggagctcggattccaagagccgcccgcgccctcgtttaccttcgctagtc c.-181
. . . . . . g.5236
gccctgcagccccgccctgtccggaggccccgccctccatgaatcagctgatcccgcgga c.-121
. . . . . . g.5296
cccactgggttgccaagctcgcgccggatgcggagcgcggtgctgccggtggagcttcag c.-61
| 02 . . . . . g.17287
| gtcttgatagactttctgtaaagaaggaatgatttggtgatggagtgttcccactgaccg c.-1
. . | 03 . . . . g.18829
ATGGACTCAAAGAAGAGAAG | CTCAACAGAGGCAGAAGGATCCAAGGAAAGAGGCCTGGTC c.60
M D S K K R S | S T E A E G S K E R G L V p.20
. . . . . . g.18889
CATATCTGGCAGGCAGGATCCTTTCCCATAACACCAGAGAGATTGCCAGGCTGGGGAGGA c.120
H I W Q A G S F P I T P E R L P G W G G p.40
. . . . . | 04 . g.24359
AAGACTGTTTTGCAGGCAGCCCTCGGAGTGAAACATGGAGTTCTTCTGACTGAAG | ATGGT c.180
K T V L Q A A L G V K H G V L L T E D | G p.60
. . . . . . g.24419
GAGGTCTACAGCTTTGGGACTCTTCCCTGGAGAAGTGGACCAGTGGAGATTTGTCCAAGT c.240
E V Y S F G T L P W R S G P V E I C P S p.80
. . . . . . g.24479
AGCCCCATTCTAGAAAATGCCCTGGTTGGGCAATATGTTATTACTGTGGCAACAGGAAGC c.300
S P I L E N A L V G Q Y V I T V A T G S p.100
. . . . . . g.24539
TTCCATAGTGGAGCAGTGACAGACAATGGTGTCGCGTACATGTGGGGAGAGAATTCTGCT c.360
F H S G A V T D N G V A Y M W G E N S A p.120
. . . . . . g.24599
GGCCAGTGTGCAGTAGCCAACCAGCAGTATGTGCCGGAACCAAATCCTGTCAGCATTGCT c.420
G Q C A V A N Q Q Y V P E P N P V S I A p.140
. . . . . . g.24659
GATTCTGAGGCCAGCCCTTTGTTAGCAGTCAGGATTTTACAGTTGGCGTGTGGCGAGGAG c.480
D S E A S P L L A V R I L Q L A C G E E p.160
. . . . . . g.24719
CACACTCTGGCATTGTCAATAAGCAGAGAGATTTGGGCATGGGGTACCGGTTGTCAGTTG c.540
H T L A L S I S R E I W A W G T G C Q L p.180
. . . . . . g.24779
GGTCTCATTACCACTGCCTTCCCAGTGACAAAGCCGCAAAAGGTAGAACATCTTGCTGGG c.600
G L I T T A F P V T K P Q K V E H L A G p.200
. . . . . . g.24839
CGAGTGGTGCTTCAAGTTGCCTGTGGTGCTTTCCACAGCTTAGCCCTTGTACAATGCCTC c.660
R V V L Q V A C G A F H S L A L V Q C L p.220
. . . . . . g.24899
CCTTCCCAGGATCTGAAGCCAGTCCCAGAACGATGCAACCAGTGCAGCCAGCTCTTGATT c.720
P S Q D L K P V P E R C N Q C S Q L L I p.240
. . . . . . g.24959
ACTATGACTGACAAAGAAGACCATGTGATTATATCAGACAGTCATTGTTGCCCATTAGGT c.780
T M T D K E D H V I I S D S H C C P L G p.260
. . . . . . g.25019
GTGACACTGACAGAATCTCAGGCAGAAAACCATGCCAGCACTGCTCTCAGCCCCTCCACT c.840
V T L T E S Q A E N H A S T A L S P S T p.280
. . . . . . g.25079
GAAACCCTTGACAGGCAGGAAGAAGTATTTGAGAACACTCTTGTAGCAAATGATCAGTCT c.900
E T L D R Q E E V F E N T L V A N D Q S p.300
. . . . . . g.25139
GTTGCTACTGAACTGAATGCAGTAAGTGCTCAGATCACAAGCAGCGATGCCATGTCCTCT c.960
V A T E L N A V S A Q I T S S D A M S S p.320
. . . . . . g.25199
CAACAAAATGTCATGGGAACAACTGAAATTTCCTCTGCCAGAAACATACCATCATACCCT c.1020
Q Q N V M G T T E I S S A R N I P S Y P p.340
. . . . . . g.25259
GACACCCAAGCAGTCAATGAATACCTACGGAAACTGTCAGATCATTCAGTAAGAGAGGAC c.1080
D T Q A V N E Y L R K L S D H S V R E D p.360
. . . | 05 . . . g.28440
TCAGAGCATGGTGAAAAGCCAGTGCCATCTCAG | CCTCTTTTAGAAGAAGCAATTCCTAAT c.1140
S E H G E K P V P S Q | P L L E E A I P N p.380
. . . . . . g.28500
CTCCACAGCCCGCCTACCACAAGCACCTCAGCCCTAAACAGCCTGGTGGTCTCTTGTGCA c.1200
L H S P P T T S T S A L N S L V V S C A p.400
. . . . . . g.28560
TCTGCTGTTGGTGTGAGAGTGGCTGCTACTTATGAAGCTGGTGCCTTGTCACTGAAGAAA c.1260
S A V G V R V A A T Y E A G A L S L K K p.420
. . . . . . g.28620
GTTATGAACTTTTATAGTACAACCCCTTGTGAAACTGGAGCTCAGGCAGGCAGTAGTGCC c.1320
V M N F Y S T T P C E T G A Q A G S S A p.440
. . . . . . g.28680
ATTGGCCCCGAAGGTTTGAAAGATAGCAGGGAAGAACAGGTTAAACAGGAATCAATGCAA c.1380
I G P E G L K D S R E E Q V K Q E S M Q p.460
. . . . . . g.28740
GGAAAGAAAAGTTCAAGTCTTGTGGATATCAGAGAAGAAGAAACAGAGGGAGGCAGTCGA c.1440
G K K S S S L V D I R E E E T E G G S R p.480
. . . | 06 . . . g.31530
AGACTCTCCCTCCCTGGATTGTTGTCACAAG | TTTCCCCCAGGCTCTTAAGAAAGGCTGCA c.1500
R L S L P G L L S Q V | S P R L L R K A A p.500
. . . . . . g.31590
CGGGTGAAAACGAGGACAGTGGTTCTGACCCCCACATACAGTGGAGAAGCAGATGCGCTC c.1560
R V K T R T V V L T P T Y S G E A D A L p.520
. . . . . . g.31650
CTGCCTTCTCTGAGAACAGAAGTGTGGACCTGGGGGAAAGGGAAGGAAGGGCAGCTGGGG c.1620
L P S L R T E V W T W G K G K E G Q L G p.540
. . | 07 . . . . g.32970
CACGGCGATGTTCTGCCTAG | GCTTCAACCGTTGTGTGTAAAATGTCTGGATGGCAAAGAA c.1680
H G D V L P R | L Q P L C V K C L D G K E p.560
. . . . . | 08. g.36386
GTAATCCATCTGGAGGCAGGTGGTTACCATTCTCTTGCACTTACTGCGAAATCCCAG | GTT c.1740
V I H L E A G G Y H S L A L T A K S Q | V p.580
. . . . . . g.36446
TACTCATGGGGTAGCAATACCTTTGGTCAACTTGGGCATTCCGATTTTCCAACAACAGTT c.1800
Y S W G S N T F G Q L G H S D F P T T V p.600
. | 09 . . . . . g.39469
CCTCGTCTTGCAAAG | ATAAGCAGTGAAAATGGAGTCTGGAGCATAGCTGCAGGCAGGGAT c.1860
P R L A K | I S S E N G V W S I A A G R D p.620
. . . . . . g.39529
TATTCCCTGTTTTTAGTGGATACAGAAGACTTCCAGCCTGGGTTATATTACAGTGGCCGA c.1920
Y S L F L V D T E D F Q P G L Y Y S G R p.640
. . . . . . g.39589
CAGGACCCTACAGAAGGTGACAACCTTCCAGAGAATCACAGTGGTTCTAAGACTCCAGTA c.1980
Q D P T E G D N L P E N H S G S K T P V p.660
. | 10 . . . . g.41785
CTTCTCTCCTGTAGTAAG | CTTGGATATATAAGCAGAGTGACAGCAGGAAAAGATAGCTAT c.2040
L L S C S K | L G Y I S R V T A G K D S Y p.680
. . . . . . g.41845
TTAGCCTTGGTGGATAAAAACATTATGGGGTATATTGCCAGTCTCCACGAGTTAGCTACT c.2100
L A L V D K N I M G Y I A S L H E L A T p.700
. . . . . . g.41905
ACAGAAAGACGATTCTATTCAAAACTAAGTGATATCAAATCTCAGATTCTCAGGCCTCTT c.2160
T E R R F Y S K L S D I K S Q I L R P L p.720
. | 11 . . . . . g.44368
CTCAGTTTAG | AAAATTTGGGCACTACAACTACAGTCCAGCTGTTGCAGGAGGTGGCTAGC c.2220
L S L E | N L G T T T T V Q L L Q E V A S p.740
. . . . . . g.44428
CGATTCAGCAAGCTGTGTTACCTCATTGGTCAGCATGGAGCCTCATTGAGCAGCTTCCTT c.2280
R F S K L C Y L I G Q H G A S L S S F L p.760
. . . . . . g.44488
CATGGGGTAAAGGAAGCCAGGAGTTTGGTCATCCTGAAGCATTCAAGTCTCTTCTTGGAT c.2340
H G V K E A R S L V I L K H S S L F L D p.780
. | 12 . . . . . g.47486
AGTTATACAGA | GTATTGCACATCTATTACAAATTTCCTGGTTATGGGAGGATTCCAGCTT c.2400
S Y T E | Y C T S I T N F L V M G G F Q L p.800
. | 13. . . . . g.52777
CTTGCTAAGCCTGCCAT | TGATTTCCTAAATAAAAACCAAGAGCTGTTGCAAGATTTGTCA c.2460
L A K P A I | D F L N K N Q E L L Q D L S p.820
. . . . . . g.52837
GAAGTGAATGACGAAAACACTCAGTTGATGGAAATACTGAATACTTTGTTTTTCTTGCCA c.2520
E V N D E N T Q L M E I L N T L F F L P p.840
. . . . . . g.52897
ATCAGACGACTTCATAATTACGCAAAAGTTTTGCTAAAGCTTGCTACTTGTTTTGAAGTG c.2580
I R R L H N Y A K V L L K L A T C F E V p.860
| 14 . . . . . . g.57049
| GCATCTCCAGAATATCAGAAACTGCAGGATTCCAGTTCTTGTTATGAGTGTCTTGCTCTC c.2640
| A S P E Y Q K L Q D S S S C Y E C L A L p.880
. . . . . . g.57109
CATCTCGGCAGGAAAAGGAAGGAAGCAGAATACACACTGGGCTTCTGGAAGACCTTCCCC c.2700
H L G R K R K E A E Y T L G F W K T F P p.900
. | 15 . . . . . g.57580
GGAAAAATGACG | GATTCCTTGAGGAAGCCAGAGCGTCGACTGCTGTGTGAGAGTAGTAAC c.2760
G K M T | D S L R K P E R R L L C E S S N p.920
. . . . . . g.57640
CGAGCCCTGTCTCTGCAGCATGCTGGGAGGTTTTCCGTGAATTGGTTCATTCTCTTTAAT c.2820
R A L S L Q H A G R F S V N W F I L F N p.940
. . | 16 . . . . g.58436
GATGCCCTGGTCCATGCCCAG | TTCTCCACGCACCATGTTTTCCCTCTGGCCACGCTGTGG c.2880
D A L V H A Q | F S T H H V F P L A T L W p.960
. . . | 17 . . . g.58922
GCAGAGCCACTGTCTGAAGAAGCTGGTGGTGT | GAATGGCTTAAAGATAACTACACCTGAG c.2940
A E P L S E E A G G V | N G L K I T T P E p.980
. . . | 18 . . g.59327
GAGCAGTTCACTCTCATTTCATCTACACCCCAGGAAAAG | ACAAAGTGGCTACGAGCTATA c.3000
E Q F T L I S S T P Q E K | T K W L R A I p.1000
. . . . . . g.59387
AGCCAAGCCGTAGATCAGGCTTTGAGAGGGATGTCTGATCTCCCCCCTTATGGAAGTGGT c.3060
S Q A V D Q A L R G M S D L P P Y G S G p.1020
. . . . . . g.59447
AGCAGTGTTCAGAGACAGGAACCACCCATTTCACGCAGTGCCAAATATACTTTCTACAAG c.3120
S S V Q R Q E P P I S R S A K Y T F Y K p.1040
. . . . . . g.59507
GATCCTCGCCTAAAGGATGCCACCTATGATGGACGCTGGCTTTCAGGGAAGCCTCATGGC c.3180
D P R L K D A T Y D G R W L S G K P H G p.1060
| 19 . . . . . . g.59681
AG | AGGGGTTTTGAAGTGGCCTGATGGAAAGATGTATTCTGGCATGTTCAGGAATGGCTTG c.3240
R | G V L K W P D G K M Y S G M F R N G L p.1080
| 20 . . . . . g.60770
GAAGATGG | GTATGGAGAATACAGAATCCCAAACAAGGCAATGAACAAAGAAGACCATTAT c.3300
E D G | Y G E Y R I P N K A M N K E D H Y p.1100
. . . . | 21. . g.61726
GTGGGCCATTGGAAAGAAGGAAAAATGTGCGGTCAAGGAGTCTACAG | CTATGCTTCTGGT c.3360
V G H W K E G K M C G Q G V Y S | Y A S G p.1120
. . . . . . g.61786
GAAGTATTTGAGGGCTGTTTTCAAGATAATATGCGTCATGGTCATGGTCTTCTACGAAGT c.3420
E V F E G C F Q D N M R H G H G L L R S p.1140
. . . . . . g.61846
GGGAAATTGACGTCCTCTTCTCCTAGTATGTTCATTGGCCAGTGGGTAATGGATAAGAAA c.3480
G K L T S S S P S M F I G Q W V M D K K p.1160
. . . | 22 . . . g.62759
GCAGGATATGGTGTCTTTGATGATATCACTAG | GGGGGAAAAGTATATGGGAATGTGGCAA c.3540
A G Y G V F D D I T R | G E K Y M G M W Q p.1180
. . . . . . g.62819
GATGATGTGTGTCAAGGGAATGGTGTGGTGGTTACCCAGTTTGGATTATACTACGAGGGC c.3600
D D V C Q G N G V V V T Q F G L Y Y E G p.1200
. . | 23 . . . . g.63088
AACTTTCACCTTAATAAAATGATG | GGAAATGGGGTTTTGCTTTCCGAAGATGATACTATC c.3660
N F H L N K M M | G N G V L L S E D D T I p.1220
. . . . | 24 . . g.67980
TATGAAGGAGAATTTTCAGATGACTGGACTCTTAGTGGAAAG | GGAACACTGACTATGCCA c.3720
Y E G E F S D D W T L S G K | G T L T M P p.1240
. . . . . . g.68040
AATGGAGACTACATTGAAGGTTATTTTAGTGGAGAATGGGGATCTGGGATAAAAATCACT c.3780
N G D Y I E G Y F S G E W G S G I K I T p.1260
. . . . . | 25 . g.70337
GGAACCTACTTCAAACCTAGTCTATATGAGAGTGATAAAGACAGACCTAAAGTTTT | CAGG c.3840
G T Y F K P S L Y E S D K D R P K V F | R p.1280
. . . . . . g.70397
AAGCTAGGAAACCTGGCAGTGCCAGCTGATGAGAAGTGGAAAGCGGTGTTTGACGAATGT c.3900
K L G N L A V P A D E K W K A V F D E C p.1300
. . . . . . g.70457
TGGCGCCAACTGGGCTGTGAGGGCCCAGGCCAAGGGGAAGTTTGGAAAGCATGGGACAAT c.3960
W R Q L G C E G P G Q G E V W K A W D N p.1320
. . . . | 26 . . g.75080
ATTGCTGTGGCCTTGACCACCAGTCGGCGCCAGCACAGAGACAG | TCCAGAAATACTGAGT c.4020
I A V A L T T S R R Q H R D S | P E I L S p.1340
. . . . . . g.75140
CGTTCACAGACTCAGACACTAGAGAGTTTGGAATTCATTCCACAGCATGTTGGTGCCTTC c.4080
R S Q T Q T L E S L E F I P Q H V G A F p.1360
. . . . | 27 . . g.76152
TCTGTGGAGAAATATGATGACATCAGGAAATATTTAATAAAG | GCCTGTGACACTCCTCTG c.4140
S V E K Y D D I R K Y L I K | A C D T P L p.1380
. . . . . . g.76212
CACCCCCTGGGCAGGCTTGTGGAGACACTGGTTGCAGTGTATAGAATGACATACGTGGGC c.4200
H P L G R L V E T L V A V Y R M T Y V G p.1400
. . . . . . g.76272
GTAGGAGCCAACCGCAGGTTATTGCAGGAGGCTGTAAAGGAGATTAAGTCCTATCTTAAG c.4260
V G A N R R L L Q E A V K E I K S Y L K p.1420
. . | 28 . . . . g.78221
CGAATTTTCCAGCTGGTGAG | GTTCTTATTTCCTGAGCTGCCTGAAGAAGGCAGCACAATT c.4320
R I F Q L V R | F L F P E L P E E G S T I p.1440
. . . . . . g.78281
CCTCTCTCTGCTCCTCTGCCAACCGAAAGGAAGTCTTTTTGCACTGGGAAGTCAGATTCC c.4380
P L S A P L P T E R K S F C T G K S D S p.1460
. . | 29 . . . . g.79187
CGATCTGAATCACCAGAGCCAGG | TTATGTAGTAACGAGTTCTGGATTATTGCTTCCTGTG c.4440
R S E S P E P G | Y V V T S S G L L L P V p.1480
. . . . . . g.79247
CTGCTACCTCGGCTCTACCCACCGCTGTTTATGCTTTATGCTTTGGATAATGATCGCGAG c.4500
L L P R L Y P P L F M L Y A L D N D R E p.1500
. . . . . . g.79307
GAAGACATTTACTGGGAATGTGTCCTTCGACTAAATAAGCAGCCAGATATTGCTCTCCTG c.4560
E D I Y W E C V L R L N K Q P D I A L L p.1520
. . | 30 . . . . g.80751
GGCTTTCTTGGGGTGCAGAG | GAAATTTTGGCCAGCAACCTTGTCAATCCTTGGAGAGAGT c.4620
G F L G V Q R | K F W P A T L S I L G E S p.1540
| 31 . . . . . . g.81026
AAAAAG | GTTTTGCCAACCACGAAAGATGCTTGTTTTGCCTCAGCAGTAGAATGTCTGCAG c.4680
K K | V L P T T K D A C F A S A V E C L Q p.1560
| 32 . . . . . g.81621
CAGATCAG | CACAACATTTACCCCATCAGACAAACTTAAGGTCATCCAGCAGACTTTTGAG c.4740
Q I S | T T F T P S D K L K V I Q Q T F E p.1580
. . . . . . g.81681
GAGATCTCTCAGAGTGTCCTGGCGTCACTCCACGAAGACTTCTTGTGGTCCATGGATGAC c.4800
E I S Q S V L A S L H E D F L W S M D D p.1600
. . . | 33 . . g.81976
TTGTTTCCTGTTTTCTTATATGTGGTGCTACGGGCCAG | GATTAGGAATTTAGGCTCTGAG c.4860
L F P V F L Y V V L R A R | I R N L G S E p.1620
. . . . . . g.82036
GTACACCTCATTGAGGATCTAATGGACCCCTATCTTCAGCATGGGGAACAGGGTATAATG c.4920
V H L I E D L M D P Y L Q H G E Q G I M p.1640
. | 34 . . . . g.84328
TTCACCACCTTGAAG | GCATGTTACTACCAGATTCAGCGTGAGAAGCTTAACTAG c.4974
F T T L K | A C Y Y Q I Q R E K L N X p.1657
. . . . . . g.84388
gctgcataacagcttgaaaactggattatctactacagagtgttataacaccatctggag c.*60
. . . . . . g.84448
tcttcctgtagtggcaaaaaagaacagtgttgaaattggaaaggactttgtgttatttag c.*120
. . . . . . g.84508
gttgttagaatgagccttaccaataataagagccctgagcccagaaaaaaggactgtata c.*180
. . . . . . g.84568
gtttaaagggaggattgaaagggaggtaaaaaatcagattagaccagttcttggcctatg c.*240
. . . . . . g.84628
ataagttccaaaaataccatttatctactatttgaaaaaagaagaggatatcccttccta c.*300
. . . . . . g.84688
cagtaaagggtatgtcagctacatgaagttgtaagaaaagcttccagtagagcttcttat c.*360
. . . . . . g.84748
attaaagaagttgatggatatttttgaatttctggtttgcctgaatccacctgcagttac c.*420
. . . . . . g.84808
cccgatccgtttgcaagaaccagatcgtacttgaaactatagtggccacactctgccttc c.*480
. . . . . . g.84868
ctgagtcccttccagtcatgtgtgcatcatgtctctttgccaagggaggggagaaaggaa c.*540
. . . . . . g.84928
cttttaaactgcagttttaactttttctaagctgtttcttgatgggagaggttctgtgca c.*600
. . . . . . g.84988
aaactaccacattctgtccccaaaatgtggaatgcatccaaataggagtcttctgcctct c.*660
. . . . . . g.85048
taacttaaaagaacataggaattttgtttttggtttctttatcatgctacagagagtgaa c.*720
. . . . . . g.85108
tacactggaattcagacaccgactctgagctgctaggaacctcatttgtccatgtgcaaa c.*780
. . . . . . g.85168
cgctgtattccaaggcctgtgaatggcagcctgaggaagttttgcatgcaggctgtgttt c.*840
. . . . . . g.85228
tcgagcaggactaacaactgggaaataagcaaaaaactgcatcgatccccagcctggtgt c.*900
. . . . . . g.85288
tgttcttccctatacttcacactgaactcaggatgggaagaaaaaggaaacaagctttgg c.*960
. . . . . . g.85348
ctttttccatctcaaaagtattgtggcacctcaacatttcagtgttttgctttttaaaaa c.*1020
. . . . . . g.85408
atgccctattgtaagttgttggtttatactgtataagtaacactagtagctgttttgaat c.*1080
. . . . . . g.85468
aacataggtgctcttcctcatctcatctcctacaccgtggtgagcatacagagtgtcctg c.*1140
. . . . . . g.85528
atttgtgttaagtgactgagaagatgttaattacttttgaaaaaggatcatggtttttgc c.*1200
. . . . . . g.85588
tctactttataatcaagacaagtgtttattaaaatactgttttggaatgttggctgtaat c.*1260
. . . . . . g.85648
gtaacagcaattttcataataaaaggcattcatctttatgtggttgttttatgattgtag c.*1320
. . . . . . g.85708
aagaaatgaacagggcagcctaaaagatgaaaggaaacccagacttagtatttctttagc c.*1380
. . . . . . g.85768
ccacattgtaatccatgcctctaagtattggcctcaaaagtccctctggggttttagaaa c.*1440
. . . . . . g.85828
tctctgtctttaaaataaacgtaaaccaatagttatagcaccctttctagcaaagagcaa c.*1500
. . . . . . g.85888
attaactttctgaccccaataacccaaggacacgggtctccaaagaaatctattatttct c.*1560
. . g.85916
ttgaataaaaagcatattttgatagtta c.*1588
(downstream sequence)
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