(used for variant description)
(last modified May 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000642.2 in the AGL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012865.1, covering AGL transcript NM_000642.2.
(upstream sequence)
. . . . g.5040
cccggaagtgggccagaggtacggtccgctcccacctggg c.-361
. . . . . . g.5100
gcgagtgcgcgcacggccaggttgggtaccgggtgcgcccaggaacccgcgcgaggcgaa c.-301
. . . . . . g.5160
gtcgctgagactctgcctgcttctcacccagctgcctcggcgctgccccggtcgctcgcc c.-241
. . . . . . g.5220
gcccctccctttgcccttcacggcgcccggccctccttgggctgcggcttctgtgcgagg c.-181
. . . . . . g.5280
ctgggcagccagcccttccccttctgtttctccccgtcccctccccccgaccgtagcacc c.-121
. . . . . . | 02 g.5899
agagtcgcgggtcctgcagtgccccagaagccgcacgtataactccctcggc | gggtaact c.-61
. . . . . . g.5959
cattcgactgtggagttcttttaattcttatgaaagatttcaaatcctctagaagccaaa c.-1
. . . . . . g.6019
ATGGGACACAGTAAACAGATTCGAATTTTACTTCTGAACGAAATGGAGAAACTGGAAAAG c.60
M G H S K Q I R I L L L N E M E K L E K p.20
. . | 03 . . . . g.16457
ACCCTCTTCAGACTTGAACAAG | GGTATGAGCTACAGTTCCGATTAGGCCCAACTTTACAG c.120
T L F R L E Q G | Y E L Q F R L G P T L Q p.40
. . . . . . g.16517
GGAAAAGCAGTTACCGTGTATACAAATTACCCATTTCCTGGAGAAACATTTAATAGAGAA c.180
G K A V T V Y T N Y P F P G E T F N R E p.60
. . . . . . g.16577
AAATTCCGTTCTCTGGATTGGGAAAATCCAACAGAAAGAGAAGATGATTCTGATAAATAC c.240
K F R S L D W E N P T E R E D D S D K Y p.80
. . . . . | 04 . g.17180
TGTAAACTTAATCTGCAACAATCTGGTTCATTTCAGTATTATTTCCTTCAAGG | AAATGAG c.300
C K L N L Q Q S G S F Q Y Y F L Q G | N E p.100
. . . . . . g.17240
AAAAGTGGTGGAGGTTACATAGTTGTGGACCCCATTTTACGTGTTGGTGCTGATAATCAT c.360
K S G G G Y I V V D P I L R V G A D N H p.120
. . . . . . g.17300
GTGCTACCCTTGGACTGTGTTACTCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTT c.420
V L P L D C V T L Q T F L A K C L G P F p.140
. . . . | 05 . . g.19322
GATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAG | GCTACAACATGATTCATTTT c.480
D E W E S R L R V A K E S G | Y N M I H F p.160
. . . . . . g.19382
ACCCCATTGCAGACTCTTGGACTATCTAGGTCATGCTACTCCCTTGCCAATCAGTTAGAA c.540
T P L Q T L G L S R S C Y S L A N Q L E p.180
. . . . . . g.19442
TTAAATCCTGACTTTTCAAGACCTAATAGAAAGTATACCTGGAATGATGTTGGACAGCTA c.600
L N P D F S R P N R K Y T W N D V G Q L p.200
. . . . . . g.19502
GTGGAAAAATTAAAAAAGGAATGGAATGTTATTTGTATTACTGATGTTGTCTACAATCAT c.660
V E K L K K E W N V I C I T D V V Y N H p.220
| 06 . . . . . . g.25372
ACTG | CTGCTAATAGTAAATGGATCCAGGAACATCCAGAATGTGCCTATAATCTTGTGAAT c.720
T A | A N S K W I Q E H P E C A Y N L V N p.240
. . . . . . g.25432
TCTCCACACTTAAAACCTGCCTGGGTCTTAGACAGAGCACTTTGGCGTTTCTCCTGTGAT c.780
S P H L K P A W V L D R A L W R F S C D p.260
. . . . . . g.25492
GTTGCAGAAGGGAAATACAAAGAAAAGGGAATACCTGCTTTGATTGAAAATGATCACCAT c.840
V A E G K Y K E K G I P A L I E N D H H p.280
| 07 . . . . . . g.25728
ATGAAT | TCCATCCGAAAAATAATTTGGGAGGATATTTTTCCAAAGCTTAAACTCTGGGAA c.900
M N | S I R K I I W E D I F P K L K L W E p.300
. . . . . | 08 g.29605
TTTTTCCAAGTAGATGTCAACAAAGCGGTTGAGCAATTTAGAAGACTTCTTACACAAG | AA c.960
F F Q V D V N K A V E Q F R R L L T Q E | p.320
. . . . . . g.29665
AATAGGCGAGTAACCAAGTCTGATCCAAACCAACACCTTACGATTATTCAAGATCCTGAA c.1020
N R R V T K S D P N Q H L T I I Q D P E p.340
. . . . . . g.29725
TACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACAT c.1080
Y R R F G C T V D M N I A L T T F I P H p.360
| 09 . . . . . . g.30128
GA | CAAGGGGCCAGCAGCAATTGAAGAATGCTGTAATTGGTTTCATAAAAGAATGGAGGAA c.1140
D | K G P A A I E E C C N W F H K R M E E p.380
. . . . | 10 . . g.30289
TTAAATTCAGAGAAGCATCGACTCATTAACTATCATCAGGAACAG | GCAGTTAATTGCCTT c.1200
L N S E K H R L I N Y H Q E Q | A V N C L p.400
. . . . . . g.30349
TTGGGAAATGTGTTTTATGAACGACTGGCTGGCCATGGTCCAAAACTAGGACCTGTCACT c.1260
L G N V F Y E R L A G H G P K L G P V T p.420
. . | 11 . . . . g.31411
AGAAAGCATCCTTTAGTTACCAG | GTATTTTACTTTCCCATTTGAAGAGATAGACTTCTCC c.1320
R K H P L V T R | Y F T F P F E E I D F S p.440
. . . . . . g.31471
ATGGAAGAATCTATGATTCATCTGCCAAATAAAGCTTGTTTTCTGATGGCACACAATGGA c.1380
M E E S M I H L P N K A C F L M A H N G p.460
. . . . | 12 . . g.32574
TGGGTAATGGGAGATGATCCTCTTCGAAACTTTGCTGAACCGG | GTTCAGAAGTTTACCTA c.1440
W V M G D D P L R N F A E P G | S E V Y L p.480
. . . . . . g.32634
AGGAGAGAACTTATTTGCTGGGGAGACAGTGTTAAATTACGCTATGGGAATAAACCAGAG c.1500
R R E L I C W G D S V K L R Y G N K P E p.500
. . . . . . g.32694
GACTGTCCTTATCTCTGGGCACACATGAAAAAATACACTGAAATAACTGCAACTTATTTC c.1560
D C P Y L W A H M K K Y T E I T A T Y F p.520
. . . . . | 13 . g.34848
CAGGGAGTACGTCTTGATAACTGCCACTCAACACCTCTTCACGTAGCTGAG | TACATGTTG c.1620
Q G V R L D N C H S T P L H V A E | Y M L p.540
. . . . . . g.34908
GATGCTGCTAGGAATTTGCAACCCAATTTATATGTAGTAGCTGAACTGTTCACAGGAAGT c.1680
D A A R N L Q P N L Y V V A E L F T G S p.560
. . . . . | 14 . g.35553
GAAGATCTGGACAATGTCTTTGTTACTAGACTGGGCATTAGTTCCTTAATAAGAG | AGGCA c.1740
E D L D N V F V T R L G I S S L I R E | A p.580
. . . . . . g.35613
ATGAGTGCATATAATAGTCATGAAGAGGGCAGATTAGTTTACCGATATGGAGGAGAACCT c.1800
M S A Y N S H E E G R L V Y R Y G G E P p.600
. . . . . . g.35673
GTTGGATCCTTTGTTCAGCCCTGTTTGAGGCCTTTAATGCCAGCTATTGCACATGCCCTG c.1860
V G S F V Q P C L R P L M P A I A H A L p.620
. . . | 15 . . g.36013
TTTATGGATATTACGCATGATAATGAGTGTCCTATTGTG | CATAGATCAGCGTATGATGCT c.1920
F M D I T H D N E C P I V | H R S A Y D A p.640
. . . . . . g.36073
CTTCCAAGTACTACAATTGTTTCTATGGCATGTTGTGCTAGTGGAAGTACAAGAGGCTAT c.1980
L P S T T I V S M A C C A S G S T R G Y p.660
. . | 16 . . . . g.36247
GATGAATTAGTGCCTCATCAG | ATTTCAGTGGTTTCTGAAGAACGGTTTTACACTAAGTGG c.2040
D E L V P H Q | I S V V S E E R F Y T K W p.680
. . . . . . g.36307
AATCCTGAAGCATTGCCTTCAAACACAGGTGAAGTTAATTTCCAAAGCGGCATTATTGCA c.2100
N P E A L P S N T G E V N F Q S G I I A p.700
. . . . . | 17. g.36460
GCCAGGTGTGCTATCAGTAAACTTCATCAGGAGCTTGGAGCCAAGGGTTTTATTCAG | GTG c.2160
A R C A I S K L H Q E L G A K G F I Q | V p.720
. . . . . . g.36520
TATGTGGATCAAGTTGATGAAGACATAGTGGCAGTAACAAGACACTCACCTAGCATCCAT c.2220
Y V D Q V D E D I V A V T R H S P S I H p.740
. . . . . . g.36580
CAGTCTGTTGTGGCTGTATCTAGAACTGCTTTCAGGAATCCCAAGACTTCATTTTACAGC c.2280
Q S V V A V S R T A F R N P K T S F Y S p.760
. . | 18 . . . g.39068
AAGGAAGTGCCTCAAATGTGCATCCCTG | GCAAAATTGAAGAAGTAGTTCTTGAAGCTAGA c.2340
K E V P Q M C I P G | K I E E V V L E A R p.780
. . . . . . g.39128
ACTATTGAGAGAAACACGAAACCTTATAGGAAGGATGAGAATTCAATCAATGGAACACCA c.2400
T I E R N T K P Y R K D E N S I N G T P p.800
. . . | 19 . . . g.39282
GATATCACAGTAGAAATTAGAGAACATATTCAG | CTTAATGAAAGTAAAATTGTTAAACAA c.2460
D I T V E I R E H I Q | L N E S K I V K Q p.820
. . . . . . g.39342
GCTGGAGTTGCCACAAAAGGGCCCAATGAATATATTCAAGAAATAGAATTTGAAAACTTG c.2520
A G V A T K G P N E Y I Q E I E F E N L p.840
. . | 20 . . . . g.39519
TCTCCAGGAAGTGTTATTATATTCAG | AGTTAGTCTTGATCCACATGCACAAGTCGCTGTT c.2580
S P G S V I I F R | V S L D P H A Q V A V p.860
. . . . . . g.39579
GGAATTCTTCGAAATCATCTGACACAATTCAGTCCTCACTTTAAATCTGGCAGCCTAGCT c.2640
G I L R N H L T Q F S P H F K S G S L A p.880
. . . . | 21 . . g.42913
GTTGACAATGCAGATCCTATATTAAAAATTCCTTTTGCTTC | TCTTGCCTCCAGATTAACT c.2700
V D N A D P I L K I P F A S | L A S R L T p.900
. . . . . . g.42973
TTGGCTGAGCTAAATCAGATCCTTTACCGATGTGAATCAGAAGAAAAGGAAGATGGTGGA c.2760
L A E L N Q I L Y R C E S E E K E D G G p.920
. . . . . | 22 . g.46144
GGGTGCTATGACATACCAAACTGGTCAGCCCTTAAATATGCAGGTCTTCAAG | GTTTAATG c.2820
G C Y D I P N W S A L K Y A G L Q G | L M p.940
. . . . . . g.46204
TCTGTATTGGCAGAAATAAGACCAAAGAATGACTTGGGGCATCCTTTTTGTAATAATTTG c.2880
S V L A E I R P K N D L G H P F C N N L p.960
. . . . . . g.46264
AGATCTGGAGATTGGATGATTGACTATGTCAGTAACCGGCTTATTTCACGATCAGGAACT c.2940
R S G D W M I D Y V S N R L I S R S G T p.980
| 23 . . . . . g.46573
ATTGCTGAA | GTTGGTAAATGGTTGCAGGCTATGTTCTTCTACCTGAAGCAGATCCCACGT c.3000
I A E | V G K W L Q A M F F Y L K Q I P R p.1000
. . . . . . g.46633
TACCTTATCCCATGTTACTTTGATGCTATATTAATTGGTGCATATACCACTCTTCTGGAT c.3060
Y L I P C Y F D A I L I G A Y T T L L D p.1020
. . | 24 . . . . g.47385
ACAGCATGGAAGCAGATGTCAAG | CTTTGTTCAGAATGGTTCAACCTTTGTGAAACACCTT c.3120
T A W K Q M S S | F V Q N G S T F V K H L p.1040
. . . . . . g.47445
TCATTGGGTTCAGTTCAACTGTGTGGAGTAGGAAAATTCCCTTCCCTGCCAATTCTTTCA c.3180
S L G S V Q L C G V G K F P S L P I L S p.1060
. . . . . . g.47505
CCTGCCCTAATGGATGTACCTTATAGGTTAAATGAGATCACAAAAGAAAAGGAGCAATGT c.3240
P A L M D V P Y R L N E I T K E K E Q C p.1080
. | 25 . . . . g.51243
TGTGTTTCTCTAGCTGCAG | GCTTACCTCATTTTTCTTCTGGTATTTTCCGCTGCTGGGGA c.3300
C V S L A A G | L P H F S S G I F R C W G p.1100
. . . . . . g.51303
AGGGATACTTTTATTGCACTTAGAGGTATACTGCTGATTACTGGACGCTATGTAGAAGCC c.3360
R D T F I A L R G I L L I T G R Y V E A p.1120
| 26 . . . . . . g.55610
AG | GAATATTATTTTAGCATTTGCGGGTACCCTGAGGCATGGTCTCATTCCTAATCTACTG c.3420
R | N I I L A F A G T L R H G L I P N L L p.1140
. . . . . . g.55670
GGTGAAGGAATTTATGCCAGATACAATTGTCGGGATGCTGTGTGGTGGTGGCTGCAGTGT c.3480
G E G I Y A R Y N C R D A V W W W L Q C p.1160
. . . . . . g.55730
ATCCAGGATTACTGTAAAATGGTTCCAAATGGTCTAGACATTCTCAAGTGCCCAGTTTCC c.3540
I Q D Y C K M V P N G L D I L K C P V S p.1180
. . . . | 27 . g.57611
AGAATGTATCCTACAGATGATTCTGCTCCTTTGCCTGCTGGCACACTG | GATCAGCCATTG c.3600
R M Y P T D D S A P L P A G T L | D Q P L p.1200
. . . . . . g.57671
TTTGAAGTCATACAGGAAGCAATGCAAAAACACATGCAGGGCATACAGTTCCGAGAAAGG c.3660
F E V I Q E A M Q K H M Q G I Q F R E R p.1220
. . . . | 28 . . g.65648
AATGCTGGTCCCCAGATAGATCGAAACATGAAGGACGAAG | GTTTTAATATAACTGCAGGA c.3720
N A G P Q I D R N M K D E G | F N I T A G p.1240
. . . . . . g.65708
GTTGATGAAGAAACAGGATTTGTTTATGGAGGAAATCGTTTCAATTGTGGCACATGGATG c.3780
V D E E T G F V Y G G N R F N C G T W M p.1260
. . . . . | 29 . g.67325
GATAAAATGGGAGAAAGTGACAGAGCTAGAAACAGAGGAATCCCAGCCACACCAAG | AGAT c.3840
D K M G E S D R A R N R G I P A T P R | D p.1280
. . . . . . g.67385
GGGTCTGCTGTGGAAATTGTGGGCCTGAGTAAATCTGCTGTTCGCTGGTTGCTGGAATTA c.3900
G S A V E I V G L S K S A V R W L L E L p.1300
. . . . | 30 . g.68454
TCCAAAAAAAATATTTTCCCTTATCATGAAGTCACAGTAAAAAGACATG | GAAAGGCTATA c.3960
S K K N I F P Y H E V T V K R H G | K A I p.1320
. . . . . . g.68514
AAGGTCTCATATGATGAGTGGAACAGAAAAATACAAGACAACTTTGAAAAGCTATTTCAT c.4020
K V S Y D E W N R K I Q D N F E K L F H p.1340
. . . . . . g.68574
GTTTCCGAAGACCCTTCAGATTTAAATGAAAAGCATCCAAATCTGGTTCACAAACGTGGC c.4080
V S E D P S D L N E K H P N L V H K R G p.1360
. . . . . . g.68634
ATATACAAAGATAGTTATGGAGCTTCAAGTCCTTGGTGTGACTATCAGCTCAGGCCTAAT c.4140
I Y K D S Y G A S S P W C D Y Q L R P N p.1380
. . | 31 . . . . g.70344
TTTACCATAGCAATGGTTGTG | GCCCCTGAGCTCTTTACTACAGAAAAAGCATGGAAAGCT c.4200
F T I A M V V | A P E L F T T E K A W K A p.1400
. . . . . | 32 g.71327
TTGGAGATTGCAGAAAAAAAATTGCTTGGTCCCCTTGGCATGAAAACTTTAGATCCAGA | T c.4260
L E I A E K K L L G P L G M K T L D P D | p.1420
. . . . . . g.71387
GATATGGTTTACTGTGGAATTTATGACAATGCATTAGACAATGACAACTACAATCTTGCT c.4320
D M V Y C G I Y D N A L D N D N Y N L A p.1440
. . | 33. . . . g.71547
AAAGGTTTCAATTATCACCAAGGACCT | GAGTGGCTGTGGCCTATTGGGTATTTTCTTCGT c.4380
K G F N Y H Q G P | E W L W P I G Y F L R p.1460
. . . . . . g.71607
GCAAAATTATATTTTTCCAGATTGATGGGCCCGGAGACTACTGCAAAGACTATAGTTTTG c.4440
A K L Y F S R L M G P E T T A K T I V L p.1480
. . . . | 34 . . g.76469
GTTAAAAATGTTCTTTCCCGACATTATGTTCATCTTGAGAG | ATCCCCTTGGAAAGGACTT c.4500
V K N V L S R H Y V H L E R | S P W K G L p.1500
. . . . . . g.76529
CCAGAACTGACCAATGAGAATGCCCAGTACTGTCCTTTCAGCTGTGAAACACAAGCCTGG c.4560
P E L T N E N A Q Y C P F S C E T Q A W p.1520
. . . g.76568
TCAATTGCTACTATTCTTGAGACACTTTATGATTTATAG c.4599
S I A T I L E T L Y D L X p.1532
. . . . . . g.76628
tttattacagatattaagtatgcaattacttgtattataggatgcaaggtcatcatatgt c.*60
. . . . . . g.76688
aaatgccttatatgcacaggctcaagttgttttaaaaatctcatttattataatattgat c.*120
. . . . . . g.76748
gctcaattaggtaagattgtaaaagcattgattttttttaatgtacagaggtagatttca c.*180
. . . . . . g.76808
atttgaatcagaaagaaatatcattaccaatgaaatgtgtttgagttcagtaagaattat c.*240
. . . . . . g.76868
tcaaatgcctagaaatccatagtttggaaaagaaaaatcatgtcatcttctatttgtaca c.*300
. . . . . . g.76928
gaaatgaaaataaaatatgaaaataatgaaagaaatgaaaagatagcttttaattgtggt c.*360
. . . . . . g.76988
atatataatcttcagtaacaatacatactgaatacgctgtggttcattaatattaacacc c.*420
. . . . . . g.77048
acgtactatagtattcttaatacagtgctcactgcatttaataaatatttaataaatgat c.*480
. . . . . . g.77108
gaatgatagaagtttccatctacaatatatgttcctaaatggagcacagatgttcaaact c.*540
. . . . . . g.77168
atgctttcattttttcactgatatattaatttttgtgtaatgaatgccaacagtatattt c.*600
. . . . . . g.77228
tatatgatttacttatgtgaggaaacatgcaaagcattaggaaatttatttcctaaaaac c.*660
. . . . . . g.77288
agttttgtaaaattagtattgagttctattgagtattataagatagcttacattttcaaa c.*720
. . . . . . g.77348
atggaaattgtcggtcatatttctagaactttaaagaaaaaagaatgttatattagtttt c.*780
. . . . . . g.77408
ctaaaactcaactatctttagtcatgttcaaaaatctattgctagatcatagtagatact c.*840
. . . . . . g.77468
ggttttctattaactcaaaacctacattgacaagtttaacattgagaagaatcttaacaa c.*900
. . . . . . g.77528
aaatatggatatgaattcagtagatatcttaaattcaataaaatcactggaagtttttca c.*960
. . . . . . g.77588
tgataacttattttaagatgccttaaaaatcttaaagtcacaaaaggaaaaaggttttta c.*1020
. . . . . . g.77648
acatttacatgagttaacattttttcatagaacttatttcctagatagaattttttactg c.*1080
. . . . . . g.77708
ttttttactgttttcttaagaaaacagttaaatcattatgcattcagttggaagaaagta c.*1140
. . . . . . g.77768
gtggcaagaattctttcattgctatataatattcagtggctcatttatacctaataaaat c.*1200
. . . . . . g.77828
aatggtattttaaaataatgctactttcaaagtagcatttttttagttagtttacaggtt c.*1260
. . . . . . g.77888
acatacccaaaaccttaactatgactaagaaattaaagaagaaaaccagcaaactaaaac c.*1320
. . . . . . g.77948
ttctgggcagcaaaaatatataaatgcttcagatgtcaaatacccatgcttgaaagctcg c.*1380
. . . . . . g.78008
tgtaatttactttaagattatctgcctgctcttcttcaaagctgaccttgctttagaaat c.*1440
. . . . . . g.78068
agttttaactagcttagttttctggtttccaaaactaaaatagattaaatcctacaaatt c.*1500
. . . . . . g.78128
taaggacagttgtgacagtaatctgaccactatctataaatacattggacattggtttcc c.*1560
. . . . . . g.78188
aaatctccctttcttcttcagttccttccttgttcaatatatacccttctctaaactgtg c.*1620
. . . . . . g.78248
cgggtaaaaggaatgactgtccttgagagaaccattagtttatcaaaggtttatgtagtt c.*1680
. . . . . . g.78308
ttgttgctgtaccctaactttgatattcagggaggtaggaaaggtaacagaaaaccagca c.*1740
. . . . . . g.78368
tatttaatcaaagcaagaagtaatcgctgacagttaaatgtgaccaaaaaaattaaaagt c.*1800
. . . . . . g.78428
tcacaatttttttaatgtagccatttggggttatctctagtaaggcagatacccacgttg c.*1860
. . . . . . g.78488
gtaaatttttaggatattgtgttgcactagaaaactaagtggttcatatttctaatgagg c.*1920
. . . . . . g.78548
aagattaatgaaagaacattgttatattctgcgtggtatattttaaagtttaagaaggca c.*1980
. . . . . . g.78608
tgttaaacattatttcctctatggtagttaaaatacagaattagatttttaacaggtgtc c.*2040
. . . . . . g.78668
atttgactaaacgtttcggtagaatgcttcatacttgagtgatgctggataaggtattgt c.*2100
. . . . . . g.78728
atttcaacaatggactatgccttggtttttcactaatcaaaatcaaaattactctttaac c.*2160
. . . . . . g.78788
atgataaatgaatttaccagtttagtatgctgtggtattttaataagttttcaaagataa c.*2220
. . . . . . g.78848
ttgggaaaacatgagactggtcatattgatgaatattgtaacatgtgaattgtgatccat c.*2280
. . . . . . g.78908
ttctgatatgtcttgaactactgtgtctagtgggcaaatgtcattgttacctctgtgtgt c.*2340
. . . g.78940
taagaaaataaaaatattttctaaaggtctgt c.*2372
(downstream sequence)
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