(used for variant description)
(last modified March 25, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_018043.5 in the ANO1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering ANO1 transcript NM_018043.5.
(upstream sequence)
g.5005
aaagg c.-301
. . . . . . g.5065
cgggccggctggcgtccaagttcctgaccaggcgcgggccggcccgcgggaccagcagcc c.-241
. . . . . . g.5125
gggtggcggcgcgatcggccccgagaggctcaggcgccccccgcatcgagcgcgcgggcc c.-181
. . . . . . g.5185
gggcgggccagggcggcgggcggagcgggaggcggccacgtccccggcgggcctgggcgc c.-121
. . . . . . g.5245
ggggaggcccggccccctgcgagcgcgccgcgaacgctgcggtctccgcccgcagaggcc c.-61
. . . . . . g.5305
gccggggccgtggatggggagggcgcgccgcccggcggtcccagcgcacaggcggccacg c.-1
. . . . . . g.5365
ATGAGGGTCAACGAGAAGTACTCGACGCTCCCGGCCGAGGACCGCAGCGTCCACATCATC c.60
M R V N E K Y S T L P A E D R S V H I I p.20
. . . . | 02 . g.14462
AACATCTGCGCCATCGAGGACATCGGCTACCTGCCGTCCGAGGGCACG | CTGCTGAACTCC c.120
N I C A I E D I G Y L P S E G T | L L N S p.40
. . . . . . g.14522
TTATCTGTGGACCCTGATGCCGAGTGCAAGTATGGCCTGTACTTCAGGGACGGCCGGCGC c.180
L S V D P D A E C K Y G L Y F R D G R R p.60
. . . . . . g.14582
AAGGTGGACTACATCCTGGTGTACCATCACAAGAGGCCCTCGGGCAACCGGACCCTGGTC c.240
K V D Y I L V Y H H K R P S G N R T L V p.80
. . . . . . g.14642
AGGAGGGTGCAGCACAGCGACACCCCCTCTGGGGCTCGCAGCGTCAAGCAGGACCACCCC c.300
R R V Q H S D T P S G A R S V K Q D H P p.100
. . . . . . g.14702
CTGCCGGGCAAGGGGGCGTCGCTGGATGCAGGCTCGGGGGAGCCCCCGATGGACTACCAC c.360
L P G K G A S L D A G S G E P P M D Y H p.120
. . . . . . g.14762
GAGGATGACAAGCGCTTCCGCAGGGAGGAGTACGAGGGCAACCTCCTGGAGGCGGGCCTG c.420
E D D K R F R R E E Y E G N L L E A G L p.140
. . | 03 . . . . g.29803
GAGCTGGAGCGGGACGAGGAC | ACTAAAATCCACGGAGTCGGGTTTGTGAAAATCCATGCC c.480
E L E R D E D | T K I H G V G F V K I H A p.160
. . . . . . g.29863
CCCTGGAACGTGCTGTGCAGAGAGGCCGAGTTTCTGAAACTGAAGATGCCGACGAAGAAG c.540
P W N V L C R E A E F L K L K M P T K K p.180
| 04 . . . . . . g.30757
| ATGTACCACATTAATGAGACCCGTGGCCTCCTGAAAAAAATCAACTCTGTGCTCCAGAAA c.600
| M Y H I N E T R G L L K K I N S V L Q K p.200
. . . . . . g.30817
ATCACAGATCCCATCCAGCCCAAAGTGGCTGAGCACAGGCCCCAGACCATGAAGAGACTC c.660
I T D P I Q P K V A E H R P Q T M K R L p.220
. . . | 05 . . . g.32460
TCCTATCCCTTCTCCCGGGAGAAGCAGCATCT | ATTTGACTTGTCTGATAAGGATTCCTTT c.720
S Y P F S R E K Q H L | F D L S D K D S F p.240
. . | 06. . . . g.35084
TTCGACAGCAAAACCCGGAGCACGATT | GTCTATGAGATCTTGAAGAGAACGACGTGTACA c.780
F D S K T R S T I | V Y E I L K R T T C T p.260
. | 07 . . . . g.38446
AAGGCCAAGTACAGCATGG | GCATCACGAGCCTGCTGGCCAATGGTGTGTACGCGGCTGCA c.840
K A K Y S M G | I T S L L A N G V Y A A A p.280
. | 08 . . . . | 09. g.51051
TACCCACTGCACGAT | GGAGACTACAACGGTGAAAACGTCGAGTTCAACGACAGAAAA | CTC c.900
Y P L H D | G D Y N G E N V E F N D R K | L p.300
. . . . . . g.51111
CTGTACGAAGAGTGGGCACGCTATGGAGTTTTCTATAAGTACCAGCCCATCGACCTGGTC c.960
L Y E E W A R Y G V F Y K Y Q P I D L V p.320
| 10 . . . . . . g.52817
AG | GAAGTATTTTGGGGAGAAGATCGGCCTGTACTTCGCCTGGCTGGGCGTGTACACCCAG c.1020
R | K Y F G E K I G L Y F A W L G V Y T Q p.340
. . . . . . g.52877
ATGCTCATCCCTGCCTCCATCGTGGGAATCATTGTCTTCCTGTACGGATGCGCCACCATG c.1080
M L I P A S I V G I I V F L Y G C A T M p.360
. | 11. . . . . g.58660
GATGAAAACATCCCCAG | CATGGAGATGTGTGACCAGAGACACAATATCACCATGTGCCCG c.1140
D E N I P S | M E M C D Q R H N I T M C P p.380
. . . . . . g.58720
CTTTGCGACAAGACCTGCAGCTACTGGAAGATGAGCTCAGCCTGCGCCACGGCCCGCGCC c.1200
L C D K T C S Y W K M S S A C A T A R A p.400
. . . . . | 12 g.76410
AGCCACCTCTTCGACAACCCCGCCACGGTCTTCTTCTCTGTCTTCATGGCCCTCTGGG | CT c.1260
S H L F D N P A T V F F S V F M A L W A | p.420
. . . . . . g.76470
GCCACCTTCATGGAGCACTGGAAGCGGAAACAGATGCGACTCAACTACCGCTGGGACCTC c.1320
A T F M E H W K R K Q M R L N Y R W D L p.440
. . | 13 . | 14 . . . g.79782
ACGGGCTTTGAAGAGGAAGAG | GAGGCTGTCAAG | GATCATCCTAGAGCTGAATACGAAGCC c.1380
T G F E E E E | E A V K | D H P R A E Y E A p.460
. . . . | 15 . . g.82624
AGAGTCTTGGAGAAGTCTCTGAAGAAAGAGTCCAGAAACAAAGAG | AAGCGCCGGCATATT c.1440
R V L E K S L K K E S R N K E | K R R H I p.480
. . . . . . g.82684
CCAGAGGAGTCAACAAACAAATGGAAGCAGAGGGTTAAGACAGCCATGGCGGGGGTGAAA c.1500
P E E S T N K W K Q R V K T A M A G V K p.500
| 16 . . . . . . g.83702
TTG | ACTGACAAAGTGAAGCTGACATGGAGAGATCGGTTCCCAGCCTACCTCACTAACTTG c.1560
L | T D K V K L T W R D R F P A Y L T N L p.520
. | 17 . . . . g.87901
GTCTCCATCATCTTCATG | ATTGCAGTGACGTTTGCCATCGTCCTCGGCGTCATCATCTAC c.1620
V S I I F M | I A V T F A I V L G V I I Y p.540
. . . . . . g.87961
AGAATCTCCATGGCCGCCGCCTTGGCCATGAACTCCTCCCCCTCCGTGCGGTCCAACATC c.1680
R I S M A A A L A M N S S P S V R S N I p.560
. . . . . . g.88021
CGGGTCACAGTCACAGCCACCGCAGTCATCATCAACCTAGTGGTCATCATCCTCCTGGAC c.1740
R V T V T A T A V I I N L V V I I L L D p.580
. . . . | 18 . . g.88340
GAGGTGTATGGCTGCATAGCCCGATGGCTCACCAAGATCG | AGGTCCCAAAGACGGAGAAA c.1800
E V Y G C I A R W L T K I E | V P K T E K p.600
. . . . . . g.88400
AGCTTTGAGGAGAGGCTGATCTTCAAGGCTTTCCTGCTGAAGTTTGTGAATTCCTACACC c.1860
S F E E R L I F K A F L L K F V N S Y T p.620
. . . | 19 . . . g.90009
CCCATCTTTTACGTGGCGTTCTTCAAAGGCCG | GTTTGTTGGACGCCCGGGCGACTACGTG c.1920
P I F Y V A F F K G R | F V G R P G D Y V p.640
. . . | 20 . . . g.92198
TACATTTTCCGTTCCTTCCGAATGGAAGAG | TGTGCGCCAGGGGGCTGCCTGATGGAGCTA c.1980
Y I F R S F R M E E | C A P G G C L M E L p.660
. . . . . . g.92258
TGCATCCAGCTCAGCATCATCATGCTGGGGAAACAGCTGATCCAGAACAACCTGTTCGAG c.2040
C I Q L S I I M L G K Q L I Q N N L F E p.680
. | 21 . . . . . g.93989
ATCGGCATCCC | GAAGATGAAGAAGCTCATCCGCTACCTGAAGCTGAAGCAGCAGAGCCCC c.2100
I G I P | K M K K L I R Y L K L K Q Q S P p.700
. . . . . . g.94049
CCTGACCACGAGGAGTGTGTGAAGAGGAAACAGCGGTACGAGGTGGATTACAACCTGGAG c.2160
P D H E E C V K R K Q R Y E V D Y N L E p.720
. . . | 22. . . g.97608
CCCTTCGCGGGCCTCACCCCAGAGTACATGGAAATGA | TCATCCAGTTTGGCTTCGTCACC c.2220
P F A G L T P E Y M E M I | I Q F G F V T p.740
. . . . . . g.97668
CTGTTTGTCGCCTCCTTCCCCCTGGCCCCACTGTTTGCGCTGCTGAACAACATCATCGAG c.2280
L F V A S F P L A P L F A L L N N I I E p.760
. . . . . . g.97728
ATCCGCCTGGACGCCAAAAAGTTTGTCACTGAGCTCCGAAGGCCGGTAGCTGTCAGAGCC c.2340
I R L D A K K F V T E L R R P V A V R A p.780
. | 23 . . . . . g.106752
AAAGACATCG | GAATCTGGTACAATATCCTCAGAGGCATTGGGAAGCTTGCTGTCATCATC c.2400
K D I G | I W Y N I L R G I G K L A V I I p.800
| 24 . . . . . . g.109257
AAT | GCCTTCGTGATCTCCTTCACGTCTGACTTCATCCCGCGCCTGGTGTACCTCTACATG c.2460
N | A F V I S F T S D F I P R L V Y L Y M p.820
. . . . . . g.109317
TACAGTAAGAACGGGACCATGCACGGCTTCGTCAACCACACCCTCTCCTCCTTCAACGTC c.2520
Y S K N G T M H G F V N H T L S S F N V p.840
. . . . . . g.109377
AGTGACTTCCAGAACGGCACGGCCCCCAATGACCCCCTGGACCTGGGCTACGAGGTGCAG c.2580
S D F Q N G T A P N D P L D L G Y E V Q p.860
| 25 . . . . . g.112340
ATCTGCAG | GTATAAAGACTACCGAGAGCCGCCGTGGTCGGAAAACAAGTACGACATCTCC c.2640
I C R | Y K D Y R E P P W S E N K Y D I S p.880
. . . . . | 26 . g.114442
AAGGACTTCTGGGCCGTCCTGGCAGCCCGGCTGGCGTTTGTCATCGTCTTCCAG | AACCTG c.2700
K D F W A V L A A R L A F V I V F Q | N L p.900
. . . . . . g.114502
GTCATGTTCATGAGCGACTTTGTGGACTGGGTCATCCCGGACATCCCCAAGGACATCAGC c.2760
V M F M S D F V D W V I P D I P K D I S p.920
. . . . . . g.114562
CAGCAGATCCACAAGGAGAAGGTGCTCATGGTGGAGCTGTTCATGCGGGAGGAGCAAGAC c.2820
Q Q I H K E K V L M V E L F M R E E Q D p.940
. . . . . . g.114622
AAGCAGCAGCTGCTGGAAACCTGGATGGAGAAGGAGCGGCAGAAGGACGAGCCGCCGTGC c.2880
K Q Q L L E T W M E K E R Q K D E P P C p.960
. . . . . . g.114682
AACCACCACAACACCAAAGCCTGCCCAGACAGCCTCGGCAGCCCAGCCCCCAGCCATGCC c.2940
N H H N T K A C P D S L G S P A P S H A p.980
. . g.114703
TACCACGGGGGCGTCCTGTAG c.2961
Y H G G V L X p.986
. . . . . . g.114763
ctatgccagcggggctgggcaggccagccgggcatcctgaccgatgggcaccctctccca c.*60
. . . . . . g.114823
gggcaggcggcttcccgctcccaccagggcccggtgggtcctgggttttctgcaaacatg c.*120
. . . . . . g.114883
gaggaccactttctgataggacattttcctttcttctttctgttttctttcccttgtttt c.*180
. . . . . . g.114943
tgcacaaagccattatgcagggaatattttttaatctgtagtattcaagatgaatcaaaa c.*240
. . . . . . g.115003
tgatggctggtaatacggcaataaggtagcaaaggcaggtgctttgcagaaagaatgctt c.*300
. . . . . . g.115063
ggaaacttgagtctccctagaggtgaaaagtgagcagaggcccgtagaaaccctcctctg c.*360
. . . . . . g.115123
aatcctcctaattccttaagatagatgcaaaatggtaagccgaggcatcgcgcaaaagct c.*420
. . . . . . g.115183
ggtgcgatgcttcagggaaaatggaaaacccacgcaagaataatgattgattccggttcc c.*480
. . . . . . g.115243
aaaaggtgtcacctacctgtttcagaaaagttagactttccatcgccttttccttccatc c.*540
. . . . . . g.115303
agttgagtggctgagagagaagtgcctcatccctgagccacacagggggcgtgggagcat c.*600
. . . . . . g.115363
cccagttatccctggaaagctagaaggggacagaggtgtccctgattaagcaggaaacag c.*660
. . . . . . g.115423
cacccttggcgtccccagcaggctccccactgtcagccacacacctgcccccatcacacc c.*720
. . . . . . g.115483
aagccgacctcagagttgttcatcttccttatgggacaaaaccggttgaccagaaaatgg c.*780
. . . . . . g.115543
gcagagagagatgacctcggaagcatttccacagatggtgtcagggtttcaagaagtctt c.*840
. . . . . . g.115603
agggcttccaggggtcccctggaagctttagaatatttatgggttttttttcaaatatca c.*900
. . . . . . g.115663
attatatggtagattgaggattttttttctgtagctcaaaggtggagggagtttattagt c.*960
. . . . . . g.115723
taaccaaatatcgttgagaggaatttaaaatactgttactaccaaagatttttattaata c.*1020
. . . . . . g.115783
aaggcttatattttggtaacacttctctatatttttactcacaggaatgtcactgttgga c.*1080
. . . . . . g.115843
caattattttaaaagtgtataaaaccaagtctcataaatgatatgagtgatctaaatttg c.*1140
. . . . . . g.115903
cagcaatgatactaaacaactctctgaaatttctcaagcaccaagagaaacatcatttta c.*1200
. . . . . . g.115963
gcaaaggccaggaggaaaaatagaaataaatttgtcttgaagatctcattgatgtgatgt c.*1260
. . . . . . g.116023
tacattccctttaatctgccaactgtggtcaaagttcataggtgtcgtacatttccatta c.*1320
. . . . . . g.116083
tttgctaaaatcatgcaatctgatgcttctcttttctcttgtacagtaagtagtttgaag c.*1380
. . . . . . g.116143
tgggttttgtatataaatactgtattaaaaattaggcaattaccaaaaatccttttatgg c.*1440
. . . . . . g.116203
aaaccatttttttaaaaagtgaatgtacacaaatccacagaggactgtggctggacattc c.*1500
. . . . g.116244
atctaaataaatttgaatatacgacacttttctcacttgaa c.*1541
(downstream sequence)
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