(used for variant description)
(last modified October 17, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_006005.3 in the WFS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011700.1, covering WFS1 transcript NM_006005.3.
(upstream sequence)
. . . . . g.5050
gtgcagaaggccgcgctagccggctcttcagcagcgagtgcagattgctc c.-121
. . . . . . g.5110
ccccgcggccgcagatctcccgtttgcgccgcgttcagctgctcccgaacaacttttctg c.-61
. . . . . . | 02 g.12606
ccggcccagaggccccagggcgtcgcagcgccgcgtgcggcccactcacgggccg | gcagg c.-1
. . . . . . g.12666
ATGGACTCCAACACTGCTCCGCTGGGCCCCTCCTGCCCACAGCCCCCGCCAGCACCGCAG c.60
M D S N T A P L G P S C P Q P P P A P Q p.20
. . . . . . g.12726
CCCCAGGCGCGTTCCCGACTCAATGCCACAGCCTCGTTGGAGCAGGAGAGGAGCGAAAGG c.120
P Q A R S R L N A T A S L E Q E R S E R p.40
. . . . . . g.12786
CCCCGAGCACCCGGACCCCAGGCTGGCCCTGGCCCTGGTGTTAGAGACGCAGCGGCCCCC c.180
P R A P G P Q A G P G P G V R D A A A P p.60
. . . . . | 03 . g.22251
GCTGAACCCCAGGCCCAGCATACCAGGAGCCGGGAAAGAGCAGACGGCACCG | GGCCTACA c.240
A E P Q A Q H T R S R E R A D G T G | P T p.80
. . . . . . g.22311
AAGGGAGACATGGAAATCCCCTTTGAAGAAGTCCTGGAGAGGGCCAAGGCCGGGGACCCC c.300
K G D M E I P F E E V L E R A K A G D P p.100
. | 04 . . . . . g.24182
AAGGCACAGACTGAG | GTGGGGAAGCACTACCTGCAGTTGGCCGGCGACACGGATGAAGAA c.360
K A Q T E | V G K H Y L Q L A G D T D E E p.120
. . . . . . g.24242
CTCAACAGCTGCACCGCTGTGGACTGGCTGGTCCTCGCCGCGAAGCAGGGCCGTCGCGAG c.420
L N S C T A V D W L V L A A K Q G R R E p.140
. . . . | 05 . . g.26367
GCTGTGAAGCTGCTTCGCCGGTGCTTGGCGGACAGAAGAG | GCATCACGTCCGAGAACGAA c.480
A V K L L R R C L A D R R G | I T S E N E p.160
. . . . . . g.26427
CGGGAGGTGAGGCAGCTCTCCTCCGAGACCGACCTGGAGAGGGCCGTGCGCAAGGCAGCC c.540
R E V R Q L S S E T D L E R A V R K A A p.180
. . . . . . g.26487
CTGGTCATGTACTGGAAGCTCAACCCCAAGAAGAAGAAGCAGGTGGCCGTGGCGGAGCTG c.600
L V M Y W K L N P K K K K Q V A V A E L p.200
. . . | 06 . . . g.27096
CTGGAGAATGTCGGCCAGGTCAACGAGCACG | ATGGAGGGGCGCAGCCAGGCCCCGTGCCC c.660
L E N V G Q V N E H D | G G A Q P G P V P p.220
. . . . . | 07 . g.30199
AAGTCCCTGCAGAAGCAGAGGCGCATGCTGGAGCGCCTGGTCAGCAGCGAGT | CCAAGAAC c.720
K S L Q K Q R R M L E R L V S S E S | K N p.240
. . . . . . g.30259
TACATCGCGCTGGATGACTTTGTGGAGATCACTAAGAAGTACGCCAAGGGCGTCATCCCC c.780
Y I A L D D F V E I T K K Y A K G V I P p.260
. . . . . . g.30319
AGCAGCCTGTTCCTGCAGGACGACGAAGATGATGACGAGCTGGCGGGGAAGAGCCCTGAG c.840
S S L F L Q D D E D D D E L A G K S P E p.280
. . | 08 . . . . g.35846
GACCTGCCACTGCGTCTGAAG | GTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAG c.900
D L P L R L K | V V K Y P L H A I M E I K p.300
. . . . . . g.35906
GAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCC c.960
E Y L I D M A S R A G M H W L S T I I P p.320
. . . . . . g.35966
ACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTC c.1020
T H H I N A L I F F F I V S N L T I D F p.340
. . . . . . g.36026
TTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGC c.1080
F A F F I P L V I F Y L S F I S M V I C p.360
. . . . . . g.36086
ACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTG c.1140
T L K V F Q D S K A W E N F R T L T D L p.380
. . . . . . g.36146
CTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAAC c.1200
L L R F E P N L D V E Q A E V N F G W N p.400
. . . . . . g.36206
CACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCC c.1260
H L E P Y A H F L L S V F F V I F S F P p.420
. . . . . . g.36266
ATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACC c.1320
I A S K D C I P C S E L A V I T G F F T p.440
. . . . . . g.36326
GTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCC c.1380
V T S Y L S L S T H A E P Y T R R A L A p.460
. . . . . . g.36386
ACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTAC c.1440
T E V T A G L L S L L P S M P L N W P Y p.480
. . . . . . g.36446
CTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAAC c.1500
L K V L G Q T F I T V P V G H L V V L N p.500
. . . . . . g.36506
GTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAG c.1560
V S V P C L L Y V Y L L Y L F F R M A Q p.520
. . . . . . g.36566
CTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGG c.1620
L R N F K G T Y C Y L V P Y L V C F M W p.540
. . . . . . g.36626
TGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCC c.1680
C E L S V V I L L E S T G L G L L R A S p.560
. . . . . . g.36686
ATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTG c.1740
I G Y F L F L F A L P I L V A G L A L V p.580
. . . . . . g.36746
GGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACC c.1800
G V L Q F A R W F T S L E L T K I A V T p.600
. . . . . . g.36806
GTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTG c.1860
V A V C S V P L L L R W W T K A S F S V p.620
. . . . . . g.36866
GTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTC c.1920
V G M V K S L T R S S M V K L I L V W L p.640
. . . . . . g.36926
ACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTAC c.1980
T A I V L F C W F Y V Y R S E G M K V Y p.660
. . . . . . g.36986
AACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAG c.2040
N S T L T W Q Q Y G A L C G P R A W K E p.680
. . . . . . g.37046
ACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGG c.2100
T N M A R T Q I L C S H L E G H R V T W p.700
. . . . . . g.37106
ACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATC c.2160
T G R F K Y V R V T D I D N S A E S A I p.720
. . . . . . g.37166
AACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCT c.2220
N M L P F F I G D W M R C L Y G E A Y P p.740
. . . . . . g.37226
GCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTG c.2280
A C S P G N T S T A E E E L C R L K L L p.760
. . . . . . g.37286
GCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGC c.2340
A K H P C H I K K F D R Y K F E I T V G p.780
. . . . . . g.37346
ATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAG c.2400
M P F S S G A D G S R S R E E D D V T K p.800
. . . . . . g.37406
GACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGC c.2460
D I V L R A S S E F K S V L L S L R Q G p.820
. . . . . . g.37466
AGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTC c.2520
S L I E F S T I L E G R L G S K W P V F p.840
. . . . . . g.37526
GAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCAC c.2580
E L K A I S C L N C M A Q L S P T R R H p.860
. . . . . . g.37586
GTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGAC c.2640
V K I E H D W R S T V H G A V K F A F D p.880
. . . g.37619
TTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGA c.2673
F F F F P F L S A A X p.890
. . . . . . g.37679
ggatggtccgccacgaggagcttccagtgcatgttgccatgaggcctttccccagtgtgg c.*60
. . . . . . g.37739
ccccagcccgacaggcatgcaccagtgccgcctgtgcccacgtgtgcagactgtggctgc c.*120
. . . . . . g.37799
agagaccttgcgaccatgtgtagattgcgtggaccccgacaaagggaaggctgctgtgta c.*180
. . . . . . g.37859
gctctgtccactctgaataccaagtgtgttgggaattgcatgccatctccaccctgagcc c.*240
. . . . . . g.37919
tgacctttctgagtgacatgggtgtgccaggctagactaggaggttccggtgtctggaaa c.*300
. . . . . . g.37979
agcactttacagatgagattccctctcctcccccaccttcaagcaccctgttccctcttt c.*360
. . . . . . g.38039
ctttcttttgtgttggatttgtttaaaaaccaaataagcatctgtgtaacctccacagta c.*420
. . . . . . g.38099
gcatttcttatttgtttggtcactgctacaccttagcagctcttcccctttcctggggga c.*480
. . . . . . g.38159
tgtgcacggcagcttgagcctgtcacgtggtcaaggcccggccccatcagaggctggggg c.*540
. . . . . . g.38219
aggcggcacattggcagtgtgtcacactgagctgggcaccacaggctgcctcatgaccct c.*600
. . . . . . g.38279
cctgtccagcaggtagtgggtgaatgtgtgaaggtcttgcctgaatccatcaggacttgg c.*660
. . . . . . g.38339
gaaacagagaaccctgtgggggcggctgtgggggaggtccctgccagtgtttagaagagc c.*720
. . . . . . g.38399
ctgactgtgttcagtgccttggagcagaaagccagggtcctgagtggctgaaataaaagc c.*780
. g.38416
ctctggtggaacctgca c.*797
(downstream sequence)
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