(used for variant description)
(last modified October 31, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000351.4 in the STS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021472.1, covering STS transcript NM_000351.4.
(upstream sequence)
g.5005
tccgc c.-241
. . . . . . g.5065
ctcacattatctgcccaagcacagtgctgttggccaagcctccagcagctgacgggaccc c.-181
. . . . . . g.5125
agctgtagtgaggttgcagtgattgagtaggattggcctgcttcaaagcagaggtttctc c.-121
. . . . . . g.5185
atgggaatatgcttattaaactcccactggtgcagaaaccatgaacagaggatgaacaag c.-61
. . . . . . g.5245
tgaagttgcaatctcctccatcacagctcagttccccaacaacaggatcacaagctggag c.-1
. | 02 . . . . . g.38814
ATGCCTTTAAG | GAAGATGAAGATCCCTTTCCTCCTACTGTTCTTTCTGTGGGAAGCCGAG c.60
M P L R | K M K I P F L L L F F L W E A E p.20
. . . . . . g.38874
AGCCACGCAGCATCAAGGCCGAACATCATCCTGGTGATGGCTGACGACCTCGGCATTGGA c.120
S H A A S R P N I I L V M A D D L G I G p.40
. . . | 03 . . . g.42839
GATCCTGGGTGCTATGGGAACAAAACTATCAG | GACTCCCAATATCGACCGGTTGGCCAGT c.180
D P G C Y G N K T I R | T P N I D R L A S p.60
. . . . . . g.42899
GGGGGAGTGAAACTCACTCAGCACCTGGCAGCATCACCGCTGTGCACACCAAGCAGGGCA c.240
G G V K L T Q H L A A S P L C T P S R A p.80
. . . | 04 . . . g.43061
GCCTTCATGACTGGCCGGTACCCTGTCCGATCAG | GAATGGCATCTTGGTCCCGCACTGGA c.300
A F M T G R Y P V R S G | M A S W S R T G p.100
. . . . . . g.43121
GTTTTCCTCTTCACAGCCTCTTCGGGAGGACTTCCCACCGATGAGATTACCTTTGCTAAG c.360
V F L F T A S S G G L P T D E I T F A K p.120
. . . | 05. . . g.44941
CTTCTGAAGGATCAAGGTTATTCAACAGCACTGATAG | GGAAATGGCACCTTGGGATGAGC c.420
L L K D Q G Y S T A L I G | K W H L G M S p.140
. . . . . . g.45001
TGTCACAGCAAGACTGACTTCTGTCACCACCCTTTACATCACGGCTTCAATTATTTCTAT c.480
C H S K T D F C H H P L H H G F N Y F Y p.160
. . . . . . g.45061
GGGATCTCTTTGACCAATCTGAGAGACTGCAAGCCCGGAGAGGGCAGTGTCTTCACCACG c.540
G I S L T N L R D C K P G E G S V F T T p.180
. . . . . . g.45121
GGCTTCAAGAGGCTGGTCTTCCTCCCCCTGCAGATCGTCGGGGTCACCCTCCTTACCCTT c.600
G F K R L V F L P L Q I V G V T L L T L p.200
. . . . . . g.45181
GCTGCACTCAATTGTCTGGGGCTACTCCACGTGCCTCTAGGCGTTTTTTTCAGCCTTCTC c.660
A A L N C L G L L H V P L G V F F S L L p.220
. . . . . . g.45241
TTCCTAGCAGCCCTAATCCTGACCCTTTTCTTGGGCTTCCTTCATTACTTCCGGCCCCTG c.720
F L A A L I L T L F L G F L H Y F R P L p.240
. . . . . . g.45301
AACTGCTTCATGATGAGGAACTACGAGATCATTCAGCAGCCCATGTCCTATGACAATCTC c.780
N C F M M R N Y E I I Q Q P M S Y D N L p.260
. . . . | 06 . . g.61539
ACCCAGAGGCTAACGGTGGAGGCGGCCCAGTTCATACAGCG | GAACACTGAGACTCCGTTC c.840
T Q R L T V E A A Q F I Q R | N T E T P F p.280
. . . . . . g.61599
CTGCTTGTCTTGTCCTACCTCCACGTGCACACAGCCCTGTTCTCCAGCAAAGACTTTGCT c.900
L L V L S Y L H V H T A L F S S K D F A p.300
. . . . . | 07 g.90617
GGCAAAAGTCAACACGGAGTCTACGGGGATGCTGTTGAGGAAATGGACTGGAGTGTGG | GG c.960
G K S Q H G V Y G D A V E E M D W S V G | p.320
. . . . . . g.90677
CAGATCTTGAACCTTCTGGATGAGCTGAGATTGGCTAATGATACCCTCATCTACTTCACA c.1020
Q I L N L L D E L R L A N D T L I Y F T p.340
. . . . . . g.90737
TCGGACCAGGGAGCACATGTAGAAGAAGTGTCTTCCAAAGGAGAAATTCATGGCGGAAGT c.1080
S D Q G A H V E E V S S K G E I H G G S p.360
. | 08 . . . . . g.110952
AATGGGATCTATAAAG | GAGGAAAAGCAAACAACTGGGAAGGAGGTATCCGGGTTCCAGGC c.1140
N G I Y K G | G K A N N W E G G I R V P G p.380
. . . . . . g.111012
ATCCTTCGTTGGCCCAGGGTGATACAGGCTGGCCAGAAGATTGATGAGCCCACTAGCAAC c.1200
I L R W P R V I Q A G Q K I D E P T S N p.400
. . . . . | 09 . g.119559
ATGGACATATTTCCTACAGTAGCCAAGCTGGCTGGAGCTCCCTTGCCTGAGGACAG | GATC c.1260
M D I F P T V A K L A G A P L P E D R | I p.420
. . . . . . g.119619
ATTGATGGACGTGATCTGATGCCCCTGCTTGAAGGAAAAAGCCAACGCTCCGATCATGAG c.1320
I D G R D L M P L L E G K S Q R S D H E p.440
. . . . . | 10 g.135459
TTTCTCTTCCATTACTGCAACGCCTACTTAAATGCTGTGCGCTGGCACCCTCAGAACA | GC c.1380
F L F H Y C N A Y L N A V R W H P Q N S | p.460
. . . . . . g.135519
ACATCCATCTGGAAGGCCTTTTTCTTCACCCCCAACTTCAACCCCGTGGGTTCCAACGGA c.1440
T S I W K A F F F T P N F N P V G S N G p.480
. . . . . . g.135579
TGCTTTGCCACACACGTGTGCTTCTGTTTCGGGAGTTATGTCACCCATCACGACCCACCT c.1500
C F A T H V C F C F G S Y V T H H D P P p.500
. . . . . . g.135639
TTACTCTTTGATATTTCCAAAGATCCCAGAGAGAGAAACCCACTAACTCCAGCATCCGAG c.1560
L L F D I S K D P R E R N P L T P A S E p.520
. . . . . . g.135699
CCCCGGTTTTATGAAATCCTCAAAGTCATGCAGGAAGCTGCGGACAGACACACCCAGACC c.1620
P R F Y E I L K V M Q E A A D R H T Q T p.540
. . . . . . g.135759
CTGCCAGAGGTGCCCGATCAGTTTTCATGGAACAACTTTCTTTGGAAGCCCTGGCTTCAG c.1680
L P E V P D Q F S W N N F L W K P W L Q p.560
. . . . . . g.135819
CTGTGCTGTCCTTCCACCGGCCTGTCTTGCCAGTGTGATAGAGAAAAACAGGATAAGAGA c.1740
L C C P S T G L S C Q C D R E K Q D K R p.580
. g.135831
CTGAGCCGCTAG c.1752
L S R X p.583
. . . . . . g.135891
cagcgcctggggaccagacagacgcatgtggcaaagctcaccatcttcactacaaacacg c.*60
. . . . . . g.135951
cctgagagtggcactggggaaacataactccatctacaccttggatttggactgattctc c.*120
. . . . . . g.136011
cattttatcacctgaaggcttgggccagagctcaacagctactcaactggaggggtgagg c.*180
. . . . . . g.136071
gggataaggtctgtagtatacagacaggaagatggtaggtttatgccttctgtggccaga c.*240
. . . . . . g.136131
gtcttggactcatggaaatagaatgaatagaggggcattcacaaggcacaccagtgcaag c.*300
. . . . . . g.136191
cagatgacaaaaaggtgcagaaggcaatcttaaaacagaaaggtgcaggaggtaccttaa c.*360
. . . . . . g.136251
ctcacccctcagcaaatacctatgtcaacagtataagttaccatttactctataatctgc c.*420
. . . . . . g.136311
agtgatgcaataaccagcataataaaaaggcaatcacataaaaaagagtttagtcgtcta c.*480
. . . . . . g.136371
aacataagtaactttaaggtgaatgaaagatcttctttaggaataatagatgatggtaag c.*540
. . . . . . g.136431
ttccactttggttattggaaggcaagtcattattactggtattagttaaaacacatatca c.*600
. . . . . . g.136491
aatgcttgctcttcatcatatatatagttatgcatacatacacacacacacatacagtat c.*660
. . . . . . g.136551
attctttcctcaaaagggttaagatgtctaaaatagggacctagaagcttaacactattt c.*720
. . . . . . g.136611
aagtaaatacagtagaagctcacaaatagatttctttgcacaatgattttttgcaaaatt c.*780
. . . . . . g.136671
ttacagtaataataatcccaaggcaaatctctcctgaactgctttccattccataatttg c.*840
. . . . . . g.136731
tagtataattcttggattccactgttttctttggggaatggaagttctgaattaaaagcc c.*900
. . . . . . g.136791
cactgtggagatgctgtggttcatggaatctcttccagtgtaattcagaatcattggcct c.*960
. . . . . . g.136851
agaaagtctctgatatttggaggggaacaaaaatcactcacaagcaatccatgatctata c.*1020
. . . . . . g.136911
cacataagcataatttcctttagttctagttagtcatcagagaacagtcatgtatgcaag c.*1080
. . . . . . g.136971
ttttgtgactgagaaatttctgtgcttccaatccacaatgagatgcatgattttgttttc c.*1140
. . . . . . g.137031
atcccatttcccccaagcccctgtaaatcagggaaaatgcgcaactgatcgcctaggaga c.*1200
. . . . . . g.137091
gggcctcgtagtggcacagctggagatagtttcaaagtctaaaccaccagcccatcctga c.*1260
. . . . . . g.137151
ggaaagcctcctatggaatgtaaagtgcaatcatttcttcagatataagactttccccaa c.*1320
. . . . . . g.137211
caatgtgattggattcctttatggcaaaatcgagagaagctgccatccacctgcttatgc c.*1380
. . . . . . g.137271
atttatctcttttgtggacttgtctgaccaccttctatttgcccagagtttgctcaattc c.*1440
. . . . . . g.137331
caagacagtgcccatgaatgggacacctgtaatgtaacccacacagcggtttgcagagaa c.*1500
. . . . . . g.137391
tgttagccatgacttgggctttctgaaagttggctataatttctctatccctacccacaa c.*1560
. . . . . . g.137451
ccctgggaagttggagcaagaggggcatactattgggctgggaggatttgacagcatttc c.*1620
. . . . . . g.137511
cccagttgccctttaagttcttctatttcaaacgttaattttgcttctctttctaaaaaa c.*1680
. . . . . . g.137571
aaaaaaaaaaaagaaagagaagaaagaagtgattcctaccccctacctccagagttgttg c.*1740
. . . . . . g.137631
aaagctgaaaagcatacaagattcttccttttaacttggatttctcgttccagaaattgt c.*1800
. . . . . . g.137691
gggataatctgtattcttgctttagaaaacattcttagagagggtactagcttactgatg c.*1860
. . . . . . g.137751
atgtgttaggattgctactgatgctgtcatgtggaaactatttaaaggcactattataaa c.*1920
. . . . . . g.137811
tttatcctataagatgacaatgtttactcaaagtctaacatattcaatgcaagtaagact c.*1980
. . . . . . g.137871
ttctgaaaacacttgatgatgtggaaatgctgcaggattaaataacttgaagagccttta c.*2040
. . . . . . g.137931
tagattatatgaatgcctatttgtgtctagaaccagttatttaacctgtaaaatgtcaat c.*2100
. . . . . . g.137991
agcaaatgaaggatgaagtatatctctagatgcaaatacattgagtttaaaagtgcctca c.*2160
. . . . . . g.138051
aaataattgagatcacatttcaggacatttggaaatcaggtcgatttgtggtaactgtag c.*2220
. . . . . . g.138111
tcatcttaaatttcaaaccatttaccatctgaaagttttgatttgaatgtaaaacaggaa c.*2280
. . . . . . g.138171
attggaattcctttgtccaggagaaacctcacaaaccttctttaaggcatagttttgttg c.*2340
. . . . . . g.138231
tttgtttgcttgtttgttgcaggctgtaaggcatggctgcttgtttacaaagcatctcat c.*2400
. . . . . . g.138291
tcatattacctgtggagttgcatatccaaaccttagtgagttttgaagctttaagcaaat c.*2460
. . . . . . g.138351
tcttttaaaaaattcttgtatttctagcattactagatattaaaagttaagcaaatagat c.*2520
. . . . . . g.138411
taatgacgtatacataggcatcatttcacaaggtcagtaatgctgcaggaaaagcaaaat c.*2580
. . . . . . g.138471
tgcaatctacgtatctatggtactaaggaagtcctgtttttcaaaaatggaagcccactt c.*2640
. . . . . . g.138531
ctcagatttttctgaagggcatacaatgaaaagtgaaggggaaacacacacacacaaaaa c.*2700
. . . . . . g.138591
aacaagtatttggcttgtcacaggaatctgattgcattaagtgaaaggattatttagaat c.*2760
. . . . . . g.138651
atgttaatgcaaagctaaaataaaattttccttggcaattaaaaatgctgtgcgctaata c.*2820
. . . . . . g.138711
ccctgctttctatcgtgactcaattcaacaatgtggggaatgtttactacatttccaact c.*2880
. . . . . . g.138771
tgatgtcaagcaatggggaatacaagttccagttctgcaaagattcgtcaactttcttag c.*2940
. . . . . . g.138831
ctcaagagagaggctgagaaatgcagagaagaataagacataaaatagctccgacctcca c.*3000
. . . . . . g.138891
tgatccgagagtgggaaaaggcccgattattacccataaggcacactctctaaggccttt c.*3060
. . . . . . g.138951
taaggggcctacaaaaatgttttattttataatcagaagaaaaggaaatgaacattgggg c.*3120
. . . . . . g.139011
attgaaaatcatattggtatttgcaccaacatagtcataaaatagtatgttaatatgttt c.*3180
. . . . . . g.139071
ttactttatatatttatatattaaaatatatttaatatgttttgcctttgtggcccatga c.*3240
. . . . . . g.139131
aagtcttactgggccctggggaaggtatcctaccctggtgaagcagctgctttgctctac c.*3300
. . . . . . g.139191
aaatacctggggcagaaatttgatttgaaaagtattattctctcttctctttgtttcaac c.*3360
. . . . . . g.139251
tggattcctttggaaaaccaaactagtatcagaacaaaccccgaaacagtaagaaattgg c.*3420
. . . . . . g.139311
agtgagaagggcatggtattgggactaggatcggctctcattcgatcgagctattctctt c.*3480
. . . . . . g.139371
aaaatgacaaaaagtgtccataaagaggctgctggagagtgcgtggccatagggagccga c.*3540
. . . . . . g.139431
catgcccgggaggaaaggtgttgattacatggatacttctaaaagctaaagccttgttgc c.*3600
. . . . . . g.139491
cttctctttaatgcctagagaatgggatgtgtgatgcaaatgctcaaaacctcttaaatc c.*3660
. . . . . . g.139551
atagctgtctgacctctacggacctcacatccatctgaggcttcatggacaaagattctc c.*3720
. . . . . . g.139611
cacttggccaaactttagccaagctcctcaaccttctcccaggcccaatctgggcacttc c.*3780
. . . . . . g.139671
cttgtaaaatctagttttggcaagaagtctattaggtcagtttagcaagaacacctaacc c.*3840
. . . . . . g.139731
cccccatatctgttcaacctcagtatctgatcaggctcctcagcctccaccatcccccag c.*3900
. . . . . . g.139791
gtgatgtctggtcaactggcctgccttcagctagaatcctgttaggtcggtttagatgaa c.*3960
. . . . . . g.139851
tgctccctgatatttcctcttggtaatcttccatccactgcccctgaccctgttccctgt c.*4020
. . . . . . g.139911
ctataaatccccagttttccatggtgtattcagagctgagtccagtctctctcccctact c.*4080
. . . . . . g.139971
acaagtccccattgctgtggtccccgtacctgtcatgatggtcctaaataaagtcttact c.*4140
. . . . . . g.140031
gtgctttaataggtagcattgaaaaatttttttctttgacatcattcatgacaacatgaa c.*4200
. . . . . . g.140091
acctattgggacagcatgactgtgcagggtctttagagctcagctttctgaggccctgag c.*4260
. . . . . . g.140151
cattcttggttttccgacatcgtgaacctgttctgtgttgcaagatatcactcaagccag c.*4320
. . . . . . g.140211
tgttgcttaataccatctctttgtgtaatagatctgaataaagtaattgtaatacaccaa c.*4380
(downstream sequence)
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