(used for variant description)
(last modified August 20, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001142617.1 in the STRA6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009207.1, covering STRA6 transcript NM_001142617.1.
(upstream sequence)
g.5006
agatca c.-241
. . . . . . g.5066
aacaccttttaaagcaggtgctggggacacttctcagggccaactgccgagaccacacaa c.-181
. . . . . . g.5126
ccagccacccctctaggatcccagcccagctggtgctgggctcagaggagaaggccccgt c.-121
. . . . . . g.5186
gttgggagcaccctgcttgcctggagggacaagtttccgggagagatcaataaaggaaag c.-61
. . . . . | 02 . g.11763
gaaagagacaaggaagggagaggtcaggagagcgcttgattggag | gagaagggccagaga c.-1
. . . . . . g.11823
ATGTCGTCCCAGCCAGCAGGGAACCAGACCTCCCCCGGGGCCACAGAGGACTACTCCTAT c.60
M S S Q P A G N Q T S P G A T E D Y S Y p.20
. . . . . | 03 . g.16219
GGCAGCTGGTACATCGATGAGCCCCAGGGGGGCGAGGAGCTCCAGCCAGAGGG | GGAAGTG c.120
G S W Y I D E P Q G G E E L Q P E G | E V p.40
. . . . . . g.16279
CCCTCCTGCCACACCAGCATACCACCCGGCCTGTACCACGCCTGCCTGGCCTCGCTGTCA c.180
P S C H T S I P P G L Y H A C L A S L S p.60
| 04 . . . . . . g.16667
| ATCCTTGTGCTGCTGCTCCTGGCCATGCTGGTGAGGCGCCGCCAGCTCTGGCCTGACTGT c.240
| I L V L L L L A M L V R R R Q L W P D C p.80
. . | 05 . . . . g.17917
GTGCGTGGCAGGCCCGGCCTGCCCAG | CCCTGTGGATTTCTTGGCTGGGGACAGGCCCCGG c.300
V R G R P G L P S | P V D F L A G D R P R p.100
. . . . . . g.17977
GCAGTGCCTGCTGCTGTTTTCATGGTCCTCCTGAGCTCCCTGTGTTTGCTGCTCCCCGAC c.360
A V P A A V F M V L L S S L C L L L P D p.120
. . . . | 06 . . g.18369
GAGGACGCATTGCCCTTCCTGACTCTCGCCTCAGCACCCAGCCAAG | ATGGGAAAACTGAG c.420
E D A L P F L T L A S A P S Q D | G K T E p.140
. | 07 . . . . . g.18612
GCTCCAAGAG | GGGCCTGGAAGATACTGGGACTGTTCTATTATGCTGCCCTCTACTACCCT c.480
A P R G | A W K I L G L F Y Y A A L Y Y P p.160
. . . . . . g.18672
CTGGCTGCCTGTGCCACGGCTGGCCACACAGCTGCACACCTGCTCGGCAGCACGCTGTCC c.540
L A A C A T A G H T A A H L L G S T L S p.180
. . . . . | 08. g.20111
TGGGCCCACCTTGGGGTCCAGGTCTGGCAGAGGGCAGAGTGTCCCCAGGTGCCCAAG | ATC c.600
W A H L G V Q V W Q R A E C P Q V P K | I p.200
. . . . . . g.20171
TACAAGTACTACTCCCTGCTGGCCTCCCTGCCTCTCCTGCTGGGCCTCGGATTCCTGAGC c.660
Y K Y Y S L L A S L P L L L G L G F L S p.220
. . . . . . g.20231
CTTTGGTACCCTGTGCAGCTGGTGAGAAGCTTCAGCCGTAGGACAGGAGCAGGCTCCAAG c.720
L W Y P V Q L V R S F S R R T G A G S K p.240
| 09 . . . . . . g.22599
| GGGCTGCAGAGCAGCTACTCTGAGGAATATCTGAGGAACCTCCTTTGCAGGAAGAAGCTG c.780
| G L Q S S Y S E E Y L R N L L C R K K L p.260
| 10 . . . . . g.22839
GGAAGCAG | CTACCACACCTCCAAGCATGGCTTCCTGTCCTGGGCCCGCGTCTGCTTGAGA c.840
G S S | Y H T S K H G F L S W A R V C L R p.280
. . | 11 . . . . g.23164
CACTGCATCTACACTCCACAGCCAG | GATTCCATCTCCCGCTGAAGCTGGTGCTTTCAGCT c.900
H C I Y T P Q P G | F H L P L K L V L S A p.300
. . | 12. . . . g.24786
ACACTGACAGGGACGGCCATTTACCAG | GTGGCCCTGCTGCTGCTGGTGGGCGTGGTACCC c.960
T L T G T A I Y Q | V A L L L L V G V V P p.320
. . . . . . g.24846
ACTATCCAGAAGGTGAGGGCAGGGGTCACCACGGATGTCTCCTACCTGCTGGCCGGCTTT c.1020
T I Q K V R A G V T T D V S Y L L A G F p.340
. . . . . . g.24906
GGAATCGTGCTCTCCGAGGACAAGCAGGAGGTGGTGGAGCTGGTGAAGCACCATCTGTGG c.1080
G I V L S E D K Q E V V E L V K H H L W p.360
. | 13 . . . . . g.29025
GCTCTGGAAG | TGTGCTACATCTCAGCCTTGGTCTTGTCCTGCTTACTCACCTTCCTGGTC c.1140
A L E V | C Y I S A L V L S C L L T F L V p.380
. . | 14 . . . . g.30075
CTGATGCGCTCACTGGTGACACACAG | GACCAACCTTCGAGCTCTGCACCGAGGAGCTGCC c.1200
L M R S L V T H R | T N L R A L H R G A A p.400
. . . . . . g.30135
CTGGACTTGAGTCCCTTGCATCGGAGTCCCCATCCCTCCCGCCAAGCCATATTCTGTTGG c.1260
L D L S P L H R S P H P S R Q A I F C W p.420
. . . . | 15 . . g.31590
ATGAGCTTCAGTGCCTACCAGACAGCCTTTATCTGCCTTG | GGCTCCTGGTGCAGCAGATC c.1320
M S F S A Y Q T A F I C L G | L L V Q Q I p.440
. . . . . . g.31650
ATCTTCTTCCTGGGAACCACGGCCCTGGCCTTCCTGGTGCTCATGCCTGTGCTCCATGGC c.1380
I F F L G T T A L A F L V L M P V L H G p.460
. . . | 16 . . g.31790
AGGAACCTCCTGCTCTTCCGTTCCCTGGAGTCCTCGTG | GCCCTTCTGGCTGACTTTGGCC c.1440
R N L L L F R S L E S S W | P F W L T L A p.480
. . . . . . g.31850
CTGGCTGTGATCCTGCAGAACATGGCAGCCCATTGGGTCTTCCTGGAGACTCATGATGGA c.1500
L A V I L Q N M A A H W V F L E T H D G p.500
. . | 17 . . . . g.32612
CACCCACAGCTGACCAACCG | GCGAGTGCTCTATGCAGCCACCTTTCTTCTCTTCCCCCTC c.1560
H P Q L T N R | R V L Y A A T F L L F P L p.520
. . . . . . g.32672
AATGTGCTGGTGGGTGCCATGGTGGCCACCTGGCGAGTGCTCCTCTCTGCCCTCTACAAC c.1620
N V L V G A M V A T W R V L L S A L Y N p.540
. . . . . . g.32732
GCCATCCACCTTGGCCAGATGGACCTCAGCCTGCTGCCACCGAGAGCCGCCACTCTCGAC c.1680
A I H L G Q M D L S L L P P R A A T L D p.560
| 18 . . . . . . g.33149
CCCG | GCTACTACACGTACCGAAACTTCTTGAAGATTGAAGTCAGCCAGTCGCATCCAGCC c.1740
P G | Y Y T Y R N F L K I E V S Q S H P A p.580
. . . . . . g.33209
ATGACAGCCTTCTGCTCCCTGCTCCTGCAAGCGCAGAGCCTCCTACCCAGGACCATGGCA c.1800
M T A F C S L L L Q A Q S L L P R T M A p.600
. . . . | 19 . . g.33807
GCCCCCCAGGACAGCCTCAGACCAGGGGAGGAAGACGAAG | GGATGCAGCTGCTACAGACA c.1860
A P Q D S L R P G E E D E G | M Q L L Q T p.620
. . . . . . g.33867
AAGGACTCCATGGCCAAGGGAGCTAGGCCCGGGGCCAGCCGCGGCAGGGCTCGCTGGGGT c.1920
K D S M A K G A R P G A S R G R A R W G p.640
. . . . . . g.33927
CTGGCCTACACGCTGCTGCACAACCCAACCCTGCAGGTCTTCCGCAAGACGGCCCTGTTG c.1980
L A Y T L L H N P T L Q V F R K T A L L p.660
. . g.33951
GGTGCCAATGGTGCCCAGCCCTGA c.2004
G A N G A Q P X p.667
. . . . . . g.34011
gggcagggaaggtcaacccacctgcccatctgtgctgaggcatgttcctgcctaccatcc c.*60
. . . . . . g.34071
tcctccctccccggctctcctcccagcatcacaccagccatgcagccagcaggtcctccg c.*120
. . . . . . g.34131
gatcactgtggttgggtggaggtctgtctgcactgggagcctcaggagggctctgctcca c.*180
. . . . . . g.34191
cccacttggctatgggagagccagcaggggttctggagaaagaaactggtgggttagggc c.*240
. . . . . . g.34251
cttggtccaggagccagttgagccagggcagccacatccaggcgtctccctaccctggct c.*300
. . . . . . g.34311
ctgccatcagccttgaagggcctcgatgaagccttctctggaaccactccagcccagctc c.*360
. . . . . . g.34371
cacctcagccttggccttcacgctgtggaagcagccaaggcacttcctcaccccctcagc c.*420
. . . . . . g.34431
gccacggacctctctggggagtggccggaaagctcccgggcctctggcctgcagggcagc c.*480
. . . . . . g.34491
ccaagtcatgactcagaccaggtcccacactgagctgcccacactcgagagccagatatt c.*540
. . . . . . g.34551
tttgtagtttttatgcctttggctattatgaaagaggttagtgtgttccctgcaataaac c.*600
. g.34565
ttgttcctgagaaa c.*614
(downstream sequence)
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