(used for variant description)
(last modified January 26, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_018075.3 in the ANO10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028216.1, covering ANO10 transcript NM_018075.3.
(upstream sequence)
. . . . . g.5051
gaccgcatctaggccccgccgcgtccgccacgcccagcgctcggcggcgcc c.-121
. . . . . . g.5111
cgccccactggcctggcccgccccccgcaccgagcactctttcgcccggcctccggttct c.-61
. . . . . | 02 g.21216
cgccggctctcggacccgcctccgaagacgtggagcgctgcggcggctg | atttgtcaaag c.-1
. . . . . . g.21276
ATGAAAGTGACCTTATCAGCTTTGGATACTTCTGAGAGTTCTTTCACACCTTTGGTGGTC c.60
M K V T L S A L D T S E S S F T P L V V p.20
. . . . . . g.21336
ATAGAACTTGCTCAGGATGTCAAAGAAGAAACCAAAGAATGGCTGAAAAACAGAATTATA c.120
I E L A Q D V K E E T K E W L K N R I I p.40
. | 03 . . . . g.26528
GCTAAAAAAAAAGATGGAG | GTGCCCAGTTGTTGTTTAGACCATTGTTAAATAAATATGAA c.180
A K K K D G G | A Q L L F R P L L N K Y E p.60
. . . . . . g.26588
CAAGAAACACTAGAAAATCAGAACTTATATCTTGTTGGTGCCTCCAAGATTAGAATGTTA c.240
Q E T L E N Q N L Y L V G A S K I R M L p.80
. . . . . . g.26648
CTAGGGGCAGAAGCAGTGGGATTGGTAAAAGAGTGCAATGATAACACCATGAGAGCCTTC c.300
L G A E A V G L V K E C N D N T M R A F p.100
. . . | 04. . . g.28425
ACATACAGAACCAGACAGAACTTCAAAGGTTTTGATG | ATAACAATGATGATTTCCTGACA c.360
T Y R T R Q N F K G F D D | N N D D F L T p.120
. . . . . . g.28485
ATGGCAGAATGTCAATTCATTATCAAACATGAACTTGAAAATCTTAGAGCTAAAGATGAA c.420
M A E C Q F I I K H E L E N L R A K D E p.140
. . . . . | 05 . g.46604
AAAATGATCCCTGGTTACCCTCAGGCAAAGTTGTATCCAGGAAAATCATTGT | TGAGAAGA c.480
K M I P G Y P Q A K L Y P G K S L L | R R p.160
. . . . . . g.46664
TTGCTCACGTCTGGCATCGTGATTCAGGTGTTTCCACTGCATGACAGTGAAGCCCTGAAG c.540
L L T S G I V I Q V F P L H D S E A L K p.180
. . . . . | 06 . g.49815
AAGCTTGAGGACACCTGGTACACTCGGTTTGCTTTGAAGTATCAGCCCATAG | ACAGTATT c.600
K L E D T W Y T R F A L K Y Q P I D | S I p.200
. . . . . . g.49875
CGTGGCTACTTTGGGGAAACAATTGCTCTGTACTTTGGATTTTTGGAGTATTTCACTTTT c.660
R G Y F G E T I A L Y F G F L E Y F T F p.220
. . . . . . g.49935
GCATTAATCCCCATGGCTGTCATTGGGTTACCTTACTACTTGTTTGTGTGGGAAGACTAT c.720
A L I P M A V I G L P Y Y L F V W E D Y p.240
. . . . . . g.49995
GACAAGTACGTGATCTTTGCCTCGTTCAACCTCATCTGGTCCACGGTGATTCTGGAACTG c.780
D K Y V I F A S F N L I W S T V I L E L p.260
. . . . . . g.50055
TGGAAGCGTGGCTGTGCCAACATGACCTACAGGTGGGGGACACTGCTCATGAAGAGAAAG c.840
W K R G C A N M T Y R W G T L L M K R K p.280
. . . . . . g.50115
TTTGAGGAGCCCCGGCCAGGATTTCATGGTGTCTTGGGTATCAATTCCATCACTGGGAAG c.900
F E E P R P G F H G V L G I N S I T G K p.300
. . . . . . g.50175
GAGGAGCCTCTGTACCCCAGCTACAAGAGACAGTTGCGCATTTACCTGGTCTCCCTGCCA c.960
E E P L Y P S Y K R Q L R I Y L V S L P p.320
. . . . . . g.50235
TTCGTGTGCCTCTGCCTCTATTTCTCACTGTATGTCATGATGATTTACTTCGACATGGAG c.1020
F V C L C L Y F S L Y V M M I Y F D M E p.340
. . . . . . g.50295
GTTTGGGCCTTGGGTCTACATGAGAACAGCGGGTCTGAGTGGACCAGTGTCCTGTTGTAT c.1080
V W A L G L H E N S G S E W T S V L L Y p.360
. . . . . . g.50355
GTGCCCAGCATCATCTATGCCATTGTGATTGAGATCATGAATCGTCTCTATCGATATGCT c.1140
V P S I I Y A I V I E I M N R L Y R Y A p.380
. . | 07 . . . . g.52242
GCCGAGTTTTTAACTTCATGGG | AGAATCACAGATTGGAATCTGCCTATCAGAACCATCTA c.1200
A E F L T S W E | N H R L E S A Y Q N H L p.400
. | 08 . . . . g.61383
ATTCTGAAAGTTTTAGTG | TTCAACTTCCTCAATTGCTTTGCCTCACTCTTCTATATTGCC c.1260
I L K V L V | F N F L N C F A S L F Y I A p.420
. . . | 09 . . . g.65693
TTTGTCTTGAAAGATATGAAGCTTTTGCGCCAG | AGCTTGGCCACTCTCCTAATTACCTCC c.1320
F V L K D M K L L R Q | S L A T L L I T S p.440
. . . . . . g.65753
CAGATCCTCAACCAAATTATGGAATCTTTTCTTCCTTATTGGCTCCAAAGGAAGCATGGT c.1380
Q I L N Q I M E S F L P Y W L Q R K H G p.460
. . . . . . g.65813
GTGCGGGTGAAGAGGAAGGTGCAGGCTTTAAAGGCAGACATTGATGCTACATTATATGAA c.1440
V R V K R K V Q A L K A D I D A T L Y E p.480
. . . | 10 . . . g.71623
CAAGTCATCCTGGAAAAAGAAATGGGAACTTATTTG | GGCACCTTTGATGATTACTTGGAG c.1500
Q V I L E K E M G T Y L | G T F D D Y L E p.500
. . . . . . g.71683
TTATTCCTGCAGTTTGGTTATGTGAGCCTTTTCTCCTGTGTTTACCCATTAGCAGCTGCC c.1560
L F L Q F G Y V S L F S C V Y P L A A A p.520
. . . . . . g.71743
TTTGCTGTGTTAAATAACTTCACTGAAGTAAATTCAGATGCCTTAAAAATGTGCAGGGTC c.1620
F A V L N N F T E V N S D A L K M C R V p.540
. . . . | 11 . g.77232
TTCAAACGTCCATTCTCAGAACCTTCAGCCAATATTGGTGTGTGGCAG | TTGGCTTTTGAA c.1680
F K R P F S E P S A N I G V W Q | L A F E p.560
. . . . . . g.77292
ACGATGAGTGTTATATCTGTGGTCACTAACTGTGCGCTGATTGGAATGTCACCACAAGTG c.1740
T M S V I S V V T N C A L I G M S P Q V p.580
. . . . . | 12. g.194344
AATGCAGTCTTTCCAGAATCAAAAGCAGACCTCATTTTGATTGTAGTAGCAGTGGAG | CAC c.1800
N A V F P E S K A D L I L I V V A V E | H p.600
. . . . . . g.194404
GCACTCCTGGCTTTAAAGTTTATACTTGCATTTGCCATACCTGATAAGCCACGGCATATC c.1860
A L L A L K F I L A F A I P D K P R H I p.620
. . . . . | 13 . g.260100
CAGATGAAACTAGCCAGACTGGAATTTGAGTCTTTGGAGGCACTCAAGCAGCAG | CAAATG c.1920
Q M K L A R L E F E S L E A L K Q Q | Q M p.640
. . . . . . g.260160
AAGCTCGTGACCGAGAACCTGAAGGAGGAACCAATGGAAAGCGGGAAGGAGAAGGCAACC c.1980
K L V T E N L K E E P M E S G K E K A T p.660
g.260163
TGA c.1983
X p.660
. . . . . . g.260223
gtgcccagcgtgcccagctgccctgttggcagaggcctgtgtctgtgccacacctgccac c.*60
. . . . . . g.260283
ggtggcagggggggtacccggggcagcatcgtggctcctgaacccagacccaatgcttag c.*120
. . . . . . g.260343
ccaaacgaagtggctcccatgtggcaagcacccttctcagtttcgcagtggcttggctcg c.*180
. . . . . . g.260403
ggatccttggcagttcccccagccccaccctgtctgctccttcccagttccttcccgggc c.*240
. . . . . . g.260463
cccacacgctgctccagctgccaactttgctgcagagccactgccgcccttgagcctctc c.*300
. . . . . . g.260523
accatgagtgagccaccagctctccacgttcccctcatagcagtgtcactcccaacccca c.*360
. . . . . . g.260583
ccatggcccagggacccgtggacaggttggggatggggtgtgtgcccactgtgctcatca c.*420
. . . . . . g.260643
caggagcctcagttgagagtgagcggggtacagtaaggcagtgcttcccacactggacct c.*480
. . . . . . g.260703
ctttcctggttctcttttgcaatacattaacagaccctttatcaacataaacaatagtaa c.*540
. . . . g.260743
ctgagctattaaaggcaacctctctgactccttctgccta c.*580
(downstream sequence)
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