(used for variant description)
(last modified January 6, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001045.6 in the SLC6A4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011747.2, covering SLC6A4 transcript NM_001045.6.
(upstream sequence)
g.5244
acagc c.-301
. . . . . . g.5304
cagcgccgccgggtgcctcgagggcgcgaggccagcccgcctgcccagcccgggaccagc c.-241
. . | 02 . . . g.18061
ctccccgcgcagcctggcag | gtctcctggaggcaaggcgaccttgcttgccctctcttgc c.-181
. . . . . . | 03 g.18858
agaataacaaggggcttagccacaggagttgctggcaagtggaaagaagaacaaatg | agt c.-121
. . . . . . g.18918
caatcccgacgtgtcaatcccgacgatagagagctcggaggtgatccacaaatccaagca c.-61
. . . . . . g.18978
cccagagatcaattgggatccttggcagatggacatcagtgtcatttactaaccagcagg c.-1
. . . . . . g.19038
ATGGAGACGACGCCCTTGAATTCTCAGAAGCAGCTATCAGCGTGTGAAGATGGAGAAGAT c.60
M E T T P L N S Q K Q L S A C E D G E D p.20
. . . . . . g.19098
TGTCAGGAAAACGGAGTTCTACAGAAGGTTGTTCCCACCCCAGGGGACAAAGTGGAGTCC c.120
C Q E N G V L Q K V V P T P G D K V E S p.40
. . . . . . g.19158
GGGCAAATATCCAATGGGTACTCAGCAGTTCCAAGTCCTGGTGCGGGAGATGACACACGG c.180
G Q I S N G Y S A V P S P G A G D D T R p.60
. . . . . . g.19218
CACTCTATCCCAGCGACCACCACCACCCTAGTGGCTGAGCTTCATCAAGGGGAACGGGAG c.240
H S I P A T T T T L V A E L H Q G E R E p.80
. . . . . . g.19278
ACCTGGGGCAAGAAGGTGGATTTCCTTCTCTCAGTGATTGGCTATGCTGTGGACCTGGGC c.300
T W G K K V D F L L S V I G Y A V D L G p.100
. . . . | 04 . . g.22022
AATGTCTGGCGCTTCCCCTACATATGTTACCAGAATGGAGGGG | GGGCATTCCTCCTCCCC c.360
N V W R F P Y I C Y Q N G G G | A F L L P p.120
. . . . . . g.22082
TACACCATCATGGCCATTTTTGGGGGAATCCCGCTCTTTTACATGGAGCTCGCACTGGGA c.420
Y T I M A I F G G I P L F Y M E L A L G p.140
. . . . . | 05 g.22601
CAGTACCACCGAAATGGATGCATTTCAATATGGAGGAAAATCTGCCCGATTTTCAAAG | GG c.480
Q Y H R N G C I S I W R K I C P I F K G | p.160
. . . . . . g.22661
ATTGGTTATGCCATCTGCATCATTGCCTTTTACATTGCTTCCTACTACAACACCATCATG c.540
I G Y A I C I I A F Y I A S Y Y N T I M p.180
. . . . . . g.22721
GCCTGGGCGCTATACTACCTCATCTCCTCCTTCACGGACCAGCTGCCCTGGACCAGCTGC c.600
A W A L Y Y L I S S F T D Q L P W T S C p.200
. . . . . . g.22781
AAGAACTCCTGGAACACTGGCAACTGCACCAATTACTTCTCCGAGGACAACATCACCTGG c.660
K N S W N T G N C T N Y F S E D N I T W p.220
. . . | 06 . . g.23654
ACCCTCCATTCCACGTCCCCTGCTGAAGAATTTTACAC | GCGCCACGTCCTGCAGATCCAC c.720
T L H S T S P A E E F Y T | R H V L Q I H p.240
. . . . . . g.23714
CGGTCTAAGGGGCTCCAGGACCTGGGGGGCATCAGCTGGCAGCTGGCCCTCTGCATCATG c.780
R S K G L Q D L G G I S W Q L A L C I M p.260
. . . . . | 07. g.24723
CTGATCTTCACTGTTATCTACTTCAGCATCTGGAAAGGCGTCAAGACCTCTGGCAAG | GTG c.840
L I F T V I Y F S I W K G V K T S G K | V p.280
. . . . . . g.24783
GTGTGGGTGACAGCCACCTTCCCTTATATCATCCTTTCTGTCCTGCTGGTGAGGGGTGCC c.900
V W V T A T F P Y I I L S V L L V R G A p.300
. . . . . . g.24843
ACCCTCCCTGGAGCCTGGAGGGGTGTTCTCTTCTACTTGAAACCCAATTGGCAGAAACTC c.960
T L P G A W R G V L F Y L K P N W Q K L p.320
. | 08 . . . . . g.25270
CTGGAGACAGGG | GTGTGGATAGATGCAGCCGCTCAGATCTTCTTCTCTCTTGGTCCGGGC c.1020
L E T G | V W I D A A A Q I F F S L G P G p.340
. . . . . | 09 . g.28073
TTTGGGGTCCTGCTGGCTTTTGCTAGCTACAACAAGTTCAACAACAACTGCTACCA | AGAT c.1080
F G V L L A F A S Y N K F N N N C Y Q | D p.360
. . . . . . g.28133
GCCCTGGTGACCAGCGTGGTGAACTGCATGACGAGCTTCGTTTCGGGATTTGTCATCTTC c.1140
A L V T S V V N C M T S F V S G F V I F p.380
. . . . . . g.28193
ACAGTGCTCGGTTACATGGCTGAGATGAGGAATGAAGATGTGTCTGAGGTGGCCAAAGAC c.1200
T V L G Y M A E M R N E D V S E V A K D p.400
| 10 . . . . . . g.29568
GCAG | GTCCCAGCCTCCTCTTCATCACGTATGCAGAAGCGATAGCCAACATGCCAGCGTCC c.1260
A G | P S L L F I T Y A E A I A N M P A S p.420
. . . . . | 11. g.30293
ACTTTCTTTGCCATCATCTTCTTTCTGATGTTAATCACGCTGGGCTTGGACAGCACG | TTT c.1320
T F F A I I F F L M L I T L G L D S T | F p.440
. . . . . . g.30353
GCAGGCTTGGAGGGGGTGATCACGGCTGTGCTGGATGAGTTCCCACACGTCTGGGCCAAG c.1380
A G L E G V I T A V L D E F P H V W A K p.460
. . . . . . g.30413
CGCCGGGAGCGGTTCGTGCTCGCCGTGGTCATCACCTGCTTCTTTGGATCCCTGGTCACC c.1440
R R E R F V L A V V I T C F F G S L V T p.480
| 12 . . . . . g.31745
CTGACTTTT | GGAGGGGCCTACGTGGTGAAGCTGCTGGAGGAGTATGCCACGGGGCCCGCA c.1500
L T F | G G A Y V V K L L E E Y A T G P A p.500
. . . . | 13 . g.33115
GTGCTCACTGTCGCGCTGATCGAAGCAGTCGCTGTGTCTTGGTTCTATG | GCATCACTCAG c.1560
V L T V A L I E A V A V S W F Y G | I T Q p.520
. . . . . . g.33175
TTCTGCAGGGACGTGAAGGAAATGCTCGGCTTCAGCCCGGGGTGGTTCTGGAGGATCTGC c.1620
F C R D V K E M L G F S P G W F W R I C p.540
. . . | 14 . . . g.37627
TGGGTGGCCATCAGCCCTCTGTTTCTCCTG | TTCATCATTTGCAGTTTTCTGATGAGCCCG c.1680
W V A I S P L F L L | F I I C S F L M S P p.560
. . . . . . g.37687
CCACAACTACGACTTTTCCAATATAATTATCCTTACTGGAGTATCATCTTGGGTTACTGC c.1740
P Q L R L F Q Y N Y P Y W S I I L G Y C p.580
. . . . . . g.37747
ATAGGAACCTCATCTTTCATTTGCATCCCCACATATATAGCTTATCGGTTGATCATCACT c.1800
I G T S S F I C I P T Y I A Y R L I I T p.600
. | 15 . . . . g.42448
CCAGGGACATTTAAAGAG | CGTATTATTAAAAGTATTACCCCAGAAACACCAACAGAAATT c.1860
P G T F K E | R I I K S I T P E T P T E I p.620
. . . g.42481
CCTTGTGGGGACATCCGCTTGAATGCTGTGTAA c.1893
P C G D I R L N A V X p.630
. . . . . . g.42541
cacactcaccgagaggaaaaaggcttctccacaacctcctcctccagttctgatgaggca c.*60
. . . . . . g.42601
cgcctgccttctcccctccaagtgaatgagtttccagctaagcctgatgatggaagggcc c.*120
. . . . . . g.42661
ttctccacagggacacagtctggtgcccagactcaaggcctccagccacttatttccatg c.*180
. . . . . . g.42721
gattcccctggacatattcccatggtagactgtgacacagctgagctggcctattttgga c.*240
. . . . . . g.42781
cgtgtgaggatgtggatggaggtgatgaaaaccaccctatcatcagttaggattaggttt c.*300
. . . . . . g.42841
agaatcaagtctgtgaaagtctcctgtatcatttcttggtatgatcattggtatctgata c.*360
. . . . . . g.42901
tctgtttgcttctaaaggtttcactgttcatgaatacgtaaactgcgtaggagagaacag c.*420
. . . . . . g.42961
ggatgctatctcgctagccatatattttctgagtagcatatataattttattgctggaat c.*480
. . . . . . g.43021
ctactagaaccttctaatccatgtgctgctgtggcatcaggaaaggaagatgtaagaagc c.*540
. . . . . . g.43081
taaaatgaaaaatagtgtgtccatgcaagcttgtgagtctgtgtatattgttgtttcagt c.*600
. . . . . . g.43141
gtattcttatctctagtccaatattttgggcccattacaaatatatgaattccccaaatt c.*660
. . . . . . g.43201
tttcttacattaacaaattctaccaactcaattgtgtatggaggttattatttgaagggt c.*720
. . . . . . g.43261
acaatcactacaacatgctctgccacccactccttttccagtgacactacttgagccaca c.*780
. . . . . . g.43321
cactttcctttacaggccagcctctggcgtttgctgcacctcattgccaccttcctgtct c.*840
. . . . . . g.43381
ctctgtgctaaacattcaggacagtgttccacaggcagatctggcctatttcattagtca c.*900
. . . . . . g.43441
ccatggcttggctgtgaagtacgttgaaggtggatcttgtcacatgccccttcagtgttc c.*960
. . . . . . g.43501
acctggccctctggtttaagttctgtctgccttacgtgactgagtttgactgtccaggtt c.*1020
. . . . . . g.43561
gctttgctcggtgaagagaggagggtaaatcggattctcgtttagcactgggttatacag c.*1080
. . . . . . g.43621
atctggcaccctaacctaaaccaaggcatcttcactccaagagcagttggagagtctggg c.*1140
. . . . . . g.43681
ttagccttacgtggacctcgccgctcgctggcggtcacgattgtgagccctccagataat c.*1200
. . . . . . g.43741
ttttaaggttgagtctaagtaaggctgcttgggaaatggtcagctaagtaaatcaccttt c.*1260
. . . . . . g.43801
catttcacataaggcccttaatatagataagtaaatttggcctttggtgtctcgtgactc c.*1320
. . . . . . g.43861
tcagaggcgtaggtagaggagcaaattaatatttgcagcatgggaattccttatcagaat c.*1380
. . . . . . g.43921
tttgaggggaataaatcctcatcagagacaaaaggacttaatcatctggccacctatcac c.*1440
. . . . . . g.43981
ttcagttctctgtataaatgaaatttaattctaacaaccttataaaaagaaggtccagac c.*1500
. . . . . . g.44041
agcagaggaaacatcctgtccaattctaggttttcctcccttggcctcctttccccagca c.*1560
. . . . . . g.44101
ttgtctaccctggcccacttcctgcattctccccatgccctgctatttctgattctttgc c.*1620
. . . . . . g.44161
ttctcctagcgagatactttccttatatgatagctgctgagaagtttcccagaactgcta c.*1680
. . . . . . g.44221
gaggaaaagaagtggggaatttaggaaatatccctcactgacctaactccattatcttca c.*1740
. . . . . . g.44281
ctctttccttcttcctgccacctcatgcccattctctttactgtctagcatgctgaaaga c.*1800
. . . . . . g.44341
aggaagtgatctaaatgccagcgtgttcagtggtaaatattagttggtgcaaaagaaaaa c.*1860
. . . . . . g.44401
ccatgattacttttgcactaacctaatagctttgcaaattttaagaacttgctttatgaa c.*1920
. . . . . . g.44461
gatattcggatatggattctccccaccccacatacttagacattgttcaaatatactact c.*1980
. . . . . . g.44521
tttaaaaaaacaccttttcaaacagaattagcgttttgccaagtctggtattaatggaat c.*2040
. . . . . . g.44581
tgtacaggagctttgaaagttttcaaactttattaaactaaaaaaaaaaaatcgaaaatc c.*2100
. . . . . . g.44641
tctgtctgttccgcatagtatgcatttatttgacccctatttatcaatactatgatgggg c.*2160
. . . . . . g.44701
ttttttttttttaaagaaaatttaagagtaggtaggtggattttaaaataatattttaaa c.*2220
. . . . . . g.44761
gaccttttatatctatatgtagcatttatagaaaaataaaaactaaaaatagaattgaat c.*2280
. . . . . . g.44821
tgtaacattatttaaggactgaagttttttttcttgtatcagtaagaaatacccaagagg c.*2340
. . . . . . g.44881
ctgggtgcagtgactcacacctgtaatcccagcactttgggaggctgcagtgggaggatc c.*2400
. . . . . . g.44941
acatgacatcaggagtttgagaccagcttggccaacatagtgaaacgccgtctctattaa c.*2460
. . . . . . g.45001
aaatacagaaaattagctgaatgtggtggcaggcgcctataattcctgctacttgggagg c.*2520
. . . . . . g.45061
ctgaggcaggagaattgcttgaacccaggaggcagaggttgcagtgagccaaacgttcca c.*2580
. . . . . . g.45121
ctgcattccagcctggatgacaagagcgaaactccgtctcaaaaaaaaaaaaaaaaattg c.*2640
. . . . . . g.45181
ttatgcttagttccatggaaagactattctgaagctttaagtcttctttttctattttcc c.*2700
. . . . . . g.45241
atagtattgccccttccccacttcattgcttaactgtctctaaattttaatgataataat c.*2760
. . . . . . g.45301
attttaaaggtcagataatgccattagaggcagagacaaacctggggaccaagctaattt c.*2820
. . . . . . g.45361
ctctgttattgagagcgctaaagacaggtgaactggagttttatttcctctgctagagtg c.*2880
. . . . . . g.45421
aaataataccctctccaccaggcacaatggctcacacctgtaattccagcactttgggag c.*2940
. . . . . . g.45481
gccaaggtgggcggatcacttgaggtcaggagttcgagaccagcctggccaacatggtga c.*3000
. . . . . . g.45541
aaccccatctctactaaaaatacaaaaattagccagccatggtggcatgctcctgtaatc c.*3060
. . . . . . g.45601
ccagctacttgggagactgaggtgggataatcacttgaacctgggaggcggaggttgcag c.*3120
. . . . . . g.45661
tgagctgagattgtgccactgcactccagcctgggtgacagagcaagactccatctaaaa c.*3180
. . . . . . g.45721
aacaaaaacaaaaacaaaaaaaccctctcaattggtttaataccacgatagaaaagataa c.*3240
. . . . . . g.45781
atattttaggatggaatcttaaatatgtctgtccttttgtttcatatagttgaaatcaat c.*3300
. . . . . . g.45841
tcagtattgtttctacattaggtgtttcaaaaacagtcacctttgcaacagaagagctct c.*3360
. . . . . . g.45901
tttgttgaaaatgattcacaatatatttcagttggaatgtcaggtggtatttctcttacc c.*3420
. . . . . . g.45961
aacacctcacagaatctatgccaagctgctctaccaccaatgcaagtatttttttaaagc c.*3480
. . . . . . g.46021
tactaaaataaactttcttcaccagccaactctaatttggagacagtgtgcattggtgaa c.*3540
. . . . . . g.46081
ggacctcgtcagaataagtttgaatgtctactgaactaagaagaattttgtcgtttgggg c.*3600
. . . . . . g.46141
gagagaatagatggcatcagtccttcaattctgtaactgaagactccaattatagtagat c.*3660
. . . . . . g.46201
aagaattgtgtctagcaatttttaaacactgacagtccaaacaaaaatatttggtgagga c.*3720
. . . . . . g.46261
aggatgtcccatatttttgcttaaatatcataaacaaatatgagcatttactaatttttt c.*3780
. . . . . . g.46321
aaatggcattttgaaagattattcttatttacactctaaaattaaaggtgtactttatct c.*3840
. . . . . . g.46381
taagaaaatgatatattaaaaattcatattttaaaagataaaattggggaatttacagtt c.*3900
. . . . . . g.46441
attttgtgaatggcctttaaactatgatttgatctatatacaacttttcagaatactttt c.*3960
. . . . . . g.46501
gattgtgtgttggacatatctaaaattaattttatctggcagaattaaacctaaatttat c.*4020
. . . . . . g.46561
ttgtataaaagagtcccctttctaaaattcatacagtgcccttgtattcatttatgcagt c.*4080
. . . . . g.46618
gtttataaatatttcaagttagattgtgagatattaataaatgatttatgctgtgaa c.*4137
(downstream sequence)
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