(used for variant description)
(last modified July 16, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_015570.2 in the AUTS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering AUTS2 transcript NM_015570.2.
(upstream sequence)
. g.5015
cgctcgcagtttcgc c.-721
. . . . . . g.5075
cctctcttccgctaatgattgcattattatgctcccctctctggggggtctcgcccctct c.-661
. . . . . . g.5135
tgggtcgctccggagccccggcctcccctggctgcatttcttaaaaatttgggagcctgg c.-601
. . . . . . g.5195
gagtgagttttctccgaggcgtgtgtgagaggcggcgggggtgttttcctgcgcgagggg c.-541
. . . . . . g.5255
cgggtgaagttcattgcccccacttttcccgcgacctttttcggacccgattttggatcg c.-481
. . . . . . g.5315
agttgaggggggcgcgggcgttttcggggggcggggggcgcggcggagaatggccgcggg c.-421
. . . . . . g.5375
gagggctccccggagcctcccagtctcttgatcaaagcattccgctattctgatttattg c.-361
. . . . . . g.5435
cttgcttggtgagttatttttttttcctctaaaggagacctgtgtgttcagccattactt c.-301
. . . . . . g.5495
tgctcggcgctgctcccaggcatctccgaccctcggtgctgtggggagccccacacttgg c.-241
. . . . . . g.5555
gctcctcgcctctcgccctcgctccccgtccctcctcccctctctccgccccttccccct c.-181
. . . . . . g.5615
tttctttctcctctctttcttcccctctctcccttctttcggccgccgtctcccccgcgc c.-121
. . . . . . g.5675
cctcctcggggcggagggaagccgtgaagggggagggagggctcggtgtcaatttttttt c.-61
. . . . . . g.5735
tgtgtggctgcggccgtagcctgtggcgggcaagcggggagaccccggcgcagcagaacc c.-1
. . . . . . g.5795
ATGGATGGCCCGACGCGGGGCCATGGACTCCGCAAAAAGCGGCGGTCGCGGTCGCAGCGA c.60
M D G P T R G H G L R K K R R S R S Q R p.20
. . . . . . g.5855
GACCGGGAGAGGCGCTCCCGGGGCGGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCT c.120
D R E R R S R G G L G A G A A G G G G A p.40
. . . . . . g.5915
GGCCGGACCCGGGCGCTCTCACTCGCCTCGTCGTCGGGCTCCGACAAGGAAGACAATGGG c.180
G R T R A L S L A S S S G S D K E D N G p.60
. . . . . . g.5975
AAGCCCCCGTCCTCCGCCCCGTCCCGGCCCAGACCCCCGCGGAGGAAGCGGAGAGAGTCC c.240
K P P S S A P S R P R P P R R K R R E S p.80
. . . . . . g.6035
ACCTCGGCAGAAGAGGACATCATTGATGGATTTGCCATGACCAGCTTTGTCACTTTTGAA c.300
T S A E E D I I D G F A M T S F V T F E p.100
| 02 . . . . . g.305418
GCGCTGGAG | AAAGATGTAGCACTTAAGCCTCAGGAACGTGTGGAGAAACGCCAGACGCCC c.360
A L E | K D V A L K P Q E R V E K R Q T P p.120
. . . . . . g.305478
CTGACCAAGAAGAAACGAGAAGCACTTACCAATGGCTTGTCCTTTCATTCAAAGAAGAGC c.420
L T K K K R E A L T N G L S F H S K K S p.140
. . . . . . g.305538
AGACTCAGCCACCCACACCACTACAGCTCAGATCGAGAAAATGACCGCAATCTCTGCCAG c.480
R L S H P H H Y S S D R E N D R N L C Q p.160
. . . . | 03 . . g.524231
CACCTTGGGAAGAGAAAGAAAATGCCGAAGGCACTCAGACAG | CTCAAGCCAGGACAGAAC c.540
H L G K R K K M P K A L R Q | L K P G Q N p.180
. . . . . . g.524291
AGCTGCAGGGACAGTGACAGTGAAAGTGCCAGTGGAGAATCCAAGGGCTTCCACCGGAGC c.600
S C R D S D S E S A S G E S K G F H R S p.200
. . | 04 . . . . g.540653
AGCTCTCGGGAAAGGCTCAGTGAT | AGTTCAGCTCCTTCCAGCTTGGGAACAGGCTACTTC c.660
S S R E R L S D | S S A P S S L G T G Y F p.220
| 05 . . . | 06 . . . g.1104680
| TGTGACAGTGACAGTGACCAGGAAGAGAAG | GCATCAGATGCCAGCTCTGAAAAACTCTTC c.720
| C D S D S D Q E E K | A S D A S S E K L F p.240
. . | 07 . . . . g.1168989
AACACTGTTATTGTAAACAAAG | ATCCGGAGTTAGGTGTTGGCACGCTACCAGAACATGAC c.780
N T V I V N K D | P E L G V G T L P E H D p.260
. . . . . . g.1169049
AGCCAGGATGCAGGGCCGATTGTCCCCAAGATATCGGGTCTAGAGAGAAGCCAGGAGAAG c.840
S Q D A G P I V P K I S G L E R S Q E K p.280
. . . . . . g.1169109
AGCCAGGACTGTTGCAAAGAGCCAATCTTTGAGCCTGTGGTGCTTAAAGACCCCTGCCCT c.900
S Q D C C K E P I F E P V V L K D P C P p.300
. . . . . . g.1169169
CAGGTCGCACAGCCAATACCCCAGCCGCAGACGGAGCCCCAACTCCGAGCTCCTTCTCCG c.960
Q V A Q P I P Q P Q T E P Q L R A P S P p.320
. . . . . . g.1169229
GACCCTGACTTGGTGCAGCGCACAGAGGCCCCACCTCAACCCCCACCTCTGAGTACACAG c.1020
D P D L V Q R T E A P P Q P P P L S T Q p.340
. . . . . . g.1169289
CCACCACAGGGCCCTCCTGAGGCCCAGCTCCAGCCTGCCCCGCAGCCTCAGGTGCAGAGG c.1080
P P Q G P P E A Q L Q P A P Q P Q V Q R p.360
. . . . . . g.1169349
CCACCCAGGCCACAGTCCCCCACCCAGCTGCTCCATCAGAACCTCCCACCTGTGCAGGCC c.1140
P P R P Q S P T Q L L H Q N L P P V Q A p.380
. . . . . . g.1169409
CACCCCTCTGCTCAGAGCCTCTCCCAGCCATTGTCAGCCTACAACAGCAGTAGCTTAAGC c.1200
H P S A Q S L S Q P L S A Y N S S S L S p.400
. | 08 . . . . . g.1170879
CTCAACAGTTTAAG | CAGCAGCAGAAGCAGCACTCCAGCGAAGACTCAGCCCGCCCCACCT c.1260
L N S L S | S S R S S T P A K T Q P A P P p.420
. . . . . . g.1170939
CACATCTCCCACCACCCCTCTGCCTCCCCGTTCCCCCTCTCCCTGCCCAACCACAGCCCC c.1320
H I S H H P S A S P F P L S L P N H S P p.440
. . . . . . g.1170999
CTGCACAGCTTCACACCCACCCTCCAGCCCCCCGCACACTCACATCACCCCAATATGTTT c.1380
L H S F T P T L Q P P A H S H H P N M F p.460
. . . . . . g.1171059
GCCCCTCCCACTGCTCTGCCTCCTCCACCACCACTGACATCAGGAAGTCTGCAGGTGGCC c.1440
A P P T A L P P P P P L T S G S L Q V A p.480
. . | 09 . . . g.1172227
GGACACCCGGCCGGGAGCACTTACTCAG | AGCAAGACATCTTGCGACAGGAACTGAACACT c.1500
G H P A G S T Y S E | Q D I L R Q E L N T p.500
. . . . . . g.1172287
CGTTTTTTGGCCTCTCAGAGTGCTGACCGCGGGGCTTCCCTGGGCCCTCCGCCCTACCTG c.1560
R F L A S Q S A D R G A S L G P P P Y L p.520
. . . . . . g.1172347
CGGACCGAGTTCCATCAGCACCAGCACCAGCACCAGCACACCCACCAGCACACGCACCAG c.1620
R T E F H Q H Q H Q H Q H T H Q H T H Q p.540
. . . . . . g.1172407
CACACCTTCACGCCGTTCCCCCACGCCATCCCACCCACCGCCATCATGCCGACGCCAGCA c.1680
H T F T P F P H A I P P T A I M P T P A p.560
| 10 . . . . | 11 . g.1177636
CCTCCCATG | TTTGACAAATACCCTACAAAAGTTGACCCATTCTACCGGCACAGT | CTCTTC c.1740
P P M | F D K Y P T K V D P F Y R H S | L F p.580
. . . . . . g.1177696
CATTCCTATCCTCCTGCAGTGTCGGGCATCCCCCCTATGATCCCACCCACTGGCCCTTTT c.1800
H S Y P P A V S G I P P M I P P T G P F p.600
. . . | 12 . . . g.1180139
GGTTCACTACAAGGAGCATTTCAGCCGAAG | ACATCCAACCCTATCGATGTCGCTGCTCGG c.1860
G S L Q G A F Q P K | T S N P I D V A A R p.620
. . . . | 13 . . g.1181456
CCTGGGACAGTCCCACACACTTTACTCCAAAAGGACCCGAGG | TTGACAGATCCTTTCAGA c.1920
P G T V P H T L L Q K D P R | L T D P F R p.640
. | 14 . . . . . g.1183232
CCTATGTTAAGG | AAACCAGGGAAGTGGTGTGCTATGCATGTTCACATCGCCTGGCAGATT c.1980
P M L R | K P G K W C A M H V H I A W Q I p.660
. . | 15 . . . . g.1187732
TACCACCACCAACAGAAAGTCAAG | AAACAGATGCAGTCAGACCCACATAAGCTGGACTTT c.2040
Y H H Q Q K V K | K Q M Q S D P H K L D F p.680
. . . . . . g.1187792
GGACTGAAACCTGAGTTCCTGAGCCGCCCTCCAGGCCCCAGTCTTTTTGGAGCCATCCAC c.2100
G L K P E F L S R P P G P S L F G A I H p.700
. . . . | 16 . . g.1191037
CACCCCCATGACCTGGCACGGCCTTCAACTTTGTTCTCTGCCGCTG | GTGCTGCACACCCA c.2160
H P H D L A R P S T L F S A A G | A A H P p.720
. . . . . . g.1191097
ACTGGGACCCCTTTTGGGCCACCTCCTCATCACAGCAACTTCCTCAACCCTGCTGCCCAC c.2220
T G T P F G P P P H H S N F L N P A A H p.740
| 17 . . . . . . g.1192092
CTAG | AGCCTTTTAATCGGCCGTCTACATTCACAGGCCTAGCAGCAGTTGGTGGCAATGCC c.2280
L E | P F N R P S T F T G L A A V G G N A p.760
. . | 18 . . . g.1193322
TTCGGGGGACTTGGAAATCCTTCCGTTA | CACCCAACTCAATGTTCGGCCACAAGGATGGC c.2340
F G G L G N P S V T | P N S M F G H K D G p.780
. . . . . . g.1193382
CCCAGTGTGCAGAACTTTAGCAACCCTCACGAACCCTGGAACCGGCTGCACCGAACGCCT c.2400
P S V Q N F S N P H E P W N R L H R T P p.800
. . . . . . g.1193442
CCGTCGTTCCCGACCCCTCCGCCCTGGCTGAAGCCAGGGGAGCTGGAGCGCAGCGCGTCC c.2460
P S F P T P P P W L K P G E L E R S A S p.820
. . . . . . g.1193502
GCTGCAGCTCATGACAGAGATAGAGATGTAGATAAACGAGACTCATCTGTTAGTAAAGAT c.2520
A A A H D R D R D V D K R D S S V S K D p.840
. | 19 . . . . . g.1195878
GACAAAGAAAG | GGAAAGCGTCGAGAAGAGACACTCCAGCCACCCTTCACCAGCACCTGTC c.2580
D K E R | E S V E K R H S S H P S P A P V p.860
. . . . . . g.1195938
CTCCCGGTGAATGCCCTGGGACATACCCGCAGCTCCACTGAACAGATCCGGGCTCATCTG c.2640
L P V N A L G H T R S S T E Q I R A H L p.880
. . . . . . g.1195998
AACACTGAGGCTCGGGAGAAGGACAAACCCAAAGAGAGGGAGAGAGACCACTCGGAATCC c.2700
N T E A R E K D K P K E R E R D H S E S p.900
. . . . . . g.1196058
CGCAAGGACCTGGCCGCCGACGAGCACAAGGCGAAAGAGGGCCACCTGCCCGAGAAGGAC c.2760
R K D L A A D E H K A K E G H L P E K D p.920
. . . . . . g.1196118
GGGCACGGCCACGAGGGGCGCGCCGCGGGCGAAGAGGCCAAGCAGCTGGCCCGGGTGCCG c.2820
G H G H E G R A A G E E A K Q L A R V P p.940
. . . . . . g.1196178
TCTCCCTACGTGCGGACCCCGGTGGTGGAGAGTGCCAGGCCCAACAGCACCTCGAGCCGG c.2880
S P Y V R T P V V E S A R P N S T S S R p.960
. . . . . . g.1196238
GAGGCCGAGCCGCGCAAGGGTGAGCCGGCCTACGAGAACCCCAAGAAGAGCTCCGAGGTC c.2940
E A E P R K G E P A Y E N P K K S S E V p.980
. . . . . . g.1196298
AAGGTGAAGGAGGAGCGGAAGGAAGACCATGACCTGCCTCCAGAGGCCCCGCAGACCCAC c.3000
K V K E E R K E D H D L P P E A P Q T H p.1000
. . . . . . g.1196358
CGGGCCTCGGAGCCGCCGCCTCCCAACTCCTCGTCCAGCGTGCACCCGGGGCCCCTGGCC c.3060
R A S E P P P P N S S S S V H P G P L A p.1020
. . . . . . g.1196418
TCGATGCCCATGACGGTGGGGGTGACGGGCATTCACCCCATGAACAGCATCAGCAGCCTG c.3120
S M P M T V G V T G I H P M N S I S S L p.1040
. . . . . . g.1196478
GACAGGACTCGCATGATGACCCCCTTCATGGGCATCAGCCCCCTCCCGGGCGGAGAGCGC c.3180
D R T R M M T P F M G I S P L P G G E R p.1060
. . . . . . g.1196538
TTCCCGTACCCTTCTTTCCACTGGGACCCCATCCGGGACCCCTTGAGGGATCCTTACCGA c.3240
F P Y P S F H W D P I R D P L R D P Y R p.1080
. . . . . . g.1196598
GAACTTGACATTCACCGGAGAGACCCGCTGGGCAGGGACTTCCTGCTAAGGAACGACCCG c.3300
E L D I H R R D P L G R D F L L R N D P p.1100
. . . . . . g.1196658
CTCCACCGGCTCTCGACTCCCCGGCTGTACGAAGCCGACCGCTCCTTCAGGGACCGGGAG c.3360
L H R L S T P R L Y E A D R S F R D R E p.1120
. . . . . . g.1196718
CCTCACGACTACAGCCACCACCACCACCACCACCACCACCCGCTGTCTGTGGACCCTCGG c.3420
P H D Y S H H H H H H H H P L S V D P R p.1140
. . . . . . g.1196778
CGGGAGCACGAGCGGGGAGGCCACCTGGACGAGCGGGAGCGCTTGCACATGCTCAGAGAA c.3480
R E H E R G G H L D E R E R L H M L R E p.1160
. . . . . . g.1196838
GACTACGAGCACACGCGGCTCCACTCCGTGCACCCCGCCTCCCTCGACGGACACCTCCCC c.3540
D Y E H T R L H S V H P A S L D G H L P p.1180
. . . . . . g.1196898
CACCCCAGCCTCATCACCCCGGGACTCCCCAGCATGCACTATCCCCGCATCAGCCCCACC c.3600
H P S L I T P G L P S M H Y P R I S P T p.1200
. . . . . . g.1196958
GCGGGCAACCAGAACGGACTCCTCAACAAGACCCCTCCGACAGCAGCGCTGAGCGCACCT c.3660
A G N Q N G L L N K T P P T A A L S A P p.1220
. . . . . . g.1197018
CCCCCGCTCATCTCCACGCTGGGGGGCCGCCCGGTCTCTCCCAGAAGGACGACTCCTCTG c.3720
P P L I S T L G G R P V S P R R T T P L p.1240
. . . . . . g.1197078
TCCGCAGAGATAAGGGAGAGGCCCCCTTCCCACACGCTGAAGGATATCGAGGCCCGATAA c.3780
S A E I R E R P P S H T L K D I E A R X p.1259
. . . . . . g.1197138
gccgagaacaggagcaagaacgaggaagaagaaaccctaggcagacaccaggccaggctt c.*60
. . . . . . g.1197198
gagagacagaactcctgcatggctcacacagactgggggggaaagccccaccccttcccc c.*120
. . . . . . g.1197258
ttgtaaaaaatgtatagactcagtgcacattttgaaatgttttgtatattatatgttgag c.*180
. . . . . . g.1197318
atttttcagatcttttagcccagtcatatgttctcacgtctcctactttttgtttctcgt c.*240
. . . . . . g.1197378
ataaaactttttgatttgaaccaaaacagtgaagatgacaacacacaccaattggatgat c.*300
. . . . . . g.1197438
aattgtagcgggggcggtgggggggagaagtccacgccatccatcatgcaaaattctttc c.*360
. . . . . . g.1197498
agatgaggtgggaaggccgtgtacatagttatgtaaaaagagattgcttcatgagctaat c.*420
. . . . . . g.1197558
ggttcatatatgcaaaagggtaagatgaaagctttactttgtacaaatgtaaatagataa c.*480
. . . . . . g.1197618
agtaacataatacattaatacttcttaaaatgtgctatttgcaaacttacttaatatcag c.*540
. . . . . . g.1197678
tgaacacagtcggctaaagctgtgttcccatatattgttatagacagctaaacccttcaa c.*600
. . . . . . g.1197738
ctatgcaatgaatgttcgggcttttcacaaaagcccgcctaactcaaaggagccttttca c.*660
. . . . . . g.1197798
aatccatttacagcatacttaaggtcatattttccctgaacaagcgcttacgtgatatga c.*720
. . . . . . g.1197858
ctctgttttccttgcttgttttttttcaaacggagaaacatcctgttttgcaaattggac c.*780
. . . . . . g.1197918
cccaggctggaacttagcatctgaagttgccgcttgtgggctctgggggaaagtgtagcc c.*840
. . . . . . g.1197978
ccggagaggtaactgaggacatgagcaaccagtgccagggagggtgggatttgccagatg c.*900
. . . . . . g.1198038
ccaaaatcaggggacgggtggtggtgtctgtcagacacacacaggtcgccagtgacttca c.*960
. . . . . . g.1198098
cacacacctcatgtgagaaccatgccttttttagtgtgtcctatttcatacctgtacaca c.*1020
. . . . . . g.1198158
cttcctcgttttgtaatgagatttacttacacccaaacagatcctgaaagaaagcttcaa c.*1080
. . . . . . g.1198218
gttttctcagatgatggatatgttttcactgtattcaataactgacggatgtaaggtgca c.*1140
. . . . . . g.1198278
cgtttcctgatgtgacgcactgtattccagctggtgatcaagtctgggaacagccgtaac c.*1200
. . . . . . g.1198338
aggtcaaccttgtggagccatcgcgagttagagggtgaaagatggcagaaaaaaaagtct c.*1260
. . . . . . g.1198398
tgtgtgtgagtgtgttttttgagtttgcatcaatcttaatgtctcttcataatactttta c.*1320
. . . . . . g.1198458
taatacattaagcctcttgtctacatatttggagagaatatgactttactagcagagaaa c.*1380
. . . . . . g.1198518
tacaatatatcttgtctactggactgtaaaatatatgtatgaaataaaattagttccatt c.*1440
. . . . . . g.1198578
tggtcttctagtatattaaagtgctatctgacgttgttatcctgtttttgcaaaaaaaaa c.*1500
. . . . . . g.1198638
aaaaaaaaaaagttaactacagaccattgtttctaataagcagagagatctattttagta c.*1560
. . . . . . g.1198698
gtaaactgaaggtttagttgtgagcttcagattttgtgaactccagatgttgtgcggtgt c.*1620
. . . . . . g.1198758
ttttttttttttttaagacaacaactaaaaaaaatgcaaggaatatgtacactggaactg c.*1680
. . . . . . g.1198818
tagtggtagctttcagtattgtaaagagattgttctatacggacctttttgctgtttatc c.*1740
. . . . . . g.1198878
ctgtatgtaataaagtcctttctagatcctatgtgaaaagaaaagtgaagcaactgaatc c.*1800
. . . . . . g.1198938
ttcagcatgttctcatcggcggagccttcttgtgtaatgtaaactgtgccatgttattaa c.*1860
. . . . g.1198981
aaaatgtgaactaagcttccagctgcttgtttgtgtgaggtga c.*1903
(downstream sequence)
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