(used for variant description)
(last modified July 29, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_000553.4 in the WRN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering WRN transcript NM_000553.4.
(upstream sequence)
g.5008
cagccgcc c.-781
. . . . . . g.5068
cctcctgcggccgctgcgggggccgccgcctgacttcggacaccggccccgcacccgcca c.-721
. . . . . . g.5128
ggaggggagggaaggggaggcggggagagcgacggcggggggcgggcggtggaccccgcc c.-661
. . . . . . g.5188
tcccccggcacagcctgctgaggggaagagggggtctccgctcttcctcagtgcactctc c.-601
. . . . . . g.5248
tgactgaagcccggcgcgtggggtgcagcgggagtgcgaggggactggacaggtgggaag c.-541
. . . . . . g.5308
atgggaatgaggaccgggcggcgggaatgttctcacttctccggattccaccgggatgca c.-481
. . . . . . g.5368
ggactctagctgcccagccgcacctgcgaagagactacacttcccgaggtgctcagcggc c.-421
. . . . . . g.5428
agcgagggcctccacgcatgcgcaccgcggcgcgctgggcggggctggatgggctgtggt c.-361
. . . . . . g.5488
gggagggttgcagcgccgcgagaaaggcgagccgggccgggggcggggaaaggggtgggg c.-301
. . . . . . g.5548
caggaacgggggcggggacggcgctggaggggcgggtcgggtaggtctcccggagctgat c.-241
. . . . . . g.5608
gtgtactgtgtgcgccggggaggcgccggcttgtactcggcagcgcgggaataaagtttg c.-181
. . . . . . g.5668
ctgatttggtgtctagcctggatgcctgggttgcaggccctgcttgtggtggcgctccac c.-121
. . . . . | 02 . g.30126
agtcatccggctgaagaagacctgttggactggatcttctcggg | ttttctttcagatatt c.-61
. . . . . . g.30186
gttttgtatttacccatgaagacattgttttttggactctgcaaataggacatttcaaag c.-1
. . . . . . g.30246
ATGAGTGAAAAAAAATTGGAAACAACTGCACAGCAGCGGAAATGTCCTGAATGGATGAAT c.60
M S E K K L E T T A Q Q R K C P E W M N p.20
. . . | 03 . . . g.30915
GTGCAGAATAAAAGATGTGCTGTAGAAGAAAGAAAG | GCATGTGTTCGGAAGAGTGTTTTT c.120
V Q N K R C A V E E R K | A C V R K S V F p.40
. . . . . . g.30975
GAAGATGACCTCCCCTTCTTAGAATTCACTGGATCCATTGTGTATAGTTACGATGCTAGT c.180
E D D L P F L E F T G S I V Y S Y D A S p.60
. . | 04 . . . g.36058
GATTGCTCTTTCCTGTCAGAAGATATTAG | CATGAGTCTATCAGATGGGGATGTGGTGGGA c.240
D C S F L S E D I S | M S L S D G D V V G p.80
. . . . . . g.36118
TTTGACATGGAGTGGCCACCATTATACAATAGAGGGAAACTTGGCAAAGTTGCACTAATT c.300
F D M E W P P L Y N R G K L G K V A L I p.100
. . . . . | 05 . g.36658
CAGTTGTGTGTTTCTGAGAGCAAATGTTACTTGTTCCACGTTTCTTCCATGTCAG | TTTTT c.360
Q L C V S E S K C Y L F H V S S M S V | F p.120
. . . . . . g.36718
CCCCAGGGATTAAAAATGTTGCTTGAAAATAAAGCAGTTAAAAAGGCAGGTGTAGGAATT c.420
P Q G L K M L L E N K A V K K A G V G I p.140
. . . . . . g.36778
GAAGGAGATCAGTGGAAACTTCTACGTGACTTTGATATCAAATTGAAGAATTTTGTGGAG c.480
E G D Q W K L L R D F D I K L K N F V E p.160
. . | 06 . . . . g.38807
TTGACAGATGTTGCCAATAAAAAG | CTGAAATGCACAGAGACCTGGAGCCTTAACAGTCTG c.540
L T D V A N K K | L K C T E T W S L N S L p.180
. . . . . . g.38867
GTTAAACACCTCTTAGGTAAACAGCTCCTGAAAGACAAGTCTATCCGCTGTAGCAATTGG c.600
V K H L L G K Q L L K D K S I R C S N W p.200
. . . . . | 07 . g.40002
AGTAAATTTCCTCTCACTGAGGACCAGAAACTGTATGCAGCCACTGATGCTTAT | GCTGGT c.660
S K F P L T E D Q K L Y A A T D A Y | A G p.220
. . . . . . g.40062
TTTATTATTTACCGAAATTTAGAGATTTTGGATGATACTGTGCAAAGGTTTGCTATAAAT c.720
F I I Y R N L E I L D D T V Q R F A I N p.240
| 08 . . . . . . g.47967
AAAG | AGGAAGAAATCCTACTTAGCGACATGAACAAACAGTTGACTTCAATCTCTGAGGAA c.780
K E | E E I L L S D M N K Q L T S I S E E p.260
. . . . . | 09 g.52606
GTGATGGATCTGGCTAAGCATCTTCCTCATGCTTTCAGTAAATTGGAAAACCCACGGAG | G c.840
V M D L A K H L P H A F S K L E N P R R | p.280
. . . . . . g.52666
GTTTCTATCTTACTAAAGGATATTTCAGAAAATCTATATTCACTGAGGAGGATGATAATT c.900
V S I L L K D I S E N L Y S L R R M I I p.300
. . . . . . g.52726
GGGTCTACTAACATTGAGACTGAACTGAGGCCCAGCAATAATTTAAACTTATTATCCTTT c.960
G S T N I E T E L R P S N N L N L L S F p.320
. . . . . . g.52786
GAAGATTCAACTACTGGGGGAGTACAACAGAAACAAATTAGAGAACATGAAGTTTTAATT c.1020
E D S T T G G V Q Q K Q I R E H E V L I p.340
. . . . . . g.52846
CACGTTGAAGATGAAACATGGGACCCAACACTTGATCATTTAGCTAAACATGATGGAGAA c.1080
H V E D E T W D P T L D H L A K H D G E p.360
. . . . . . g.52906
GATGTACTTGGAAATAAAGTGGAACGAAAAGAAGATGGATTTGAAGATGGAGTAGAAGAC c.1140
D V L G N K V E R K E D G F E D G V E D p.380
. . . . . . g.52966
AACAAATTGAAAGAGAATATGGAAAGAGCTTGTTTGATGTCGTTAGATATTACAGAACAT c.1200
N K L K E N M E R A C L M S L D I T E H p.400
. . . . . . g.53026
GAACTCCAAATTTTGGAACAGCAGTCTCAGGAAGAATATCTTAGTGATATTGCTTATAAA c.1260
E L Q I L E Q Q S Q E E Y L S D I A Y K p.420
| 10 . . . . . g.55488
TCTACTGAG | CATTTATCTCCCAATGATAATGAAAACGATACGTCCTATGTAATTGAGAGT c.1320
S T E | H L S P N D N E N D T S Y V I E S p.440
. . . | 11 . . . g.56934
GATGAAGATTTAGAAATGGAGATGCTTAAG | CATTTATCTCCCAATGATAATGAAAACGAT c.1380
D E D L E M E M L K | H L S P N D N E N D p.460
. . . . . | 12 . g.59523
ACGTCCTATGTAATTGAGAGTGATGAAGATTTAGAAATGGAGATGCTTAAG | TCTTTAGAA c.1440
T S Y V I E S D E D L E M E M L K | S L E p.480
. . . . . . g.59583
AACCTCAATAGTGGCACGGTAGAACCAACTCATTCTAAATGCTTAAAAATGGAAAGAAAT c.1500
N L N S G T V E P T H S K C L K M E R N p.500
. . . . . . g.59643
CTGGGTCTTCCTACTAAAGAAGAAGAAGAAGATGATGAAAATGAAGCTAATGAAGGGGAA c.1560
L G L P T K E E E E D D E N E A N E G E p.520
. | 13 . . . . . g.60672
GAAGATGATGATAAGG | ACTTTTTGTGGCCAGCACCCAATGAAGAGCAAGTTACTTGCCTC c.1620
E D D D K D | F L W P A P N E E Q V T C L p.540
. . . | 14 . . . g.62231
AAGATGTACTTTGGCCATTCCAGTTTTAAACC | AGTTCAGTGGAAAGTGATTCATTCAGTA c.1680
K M Y F G H S S F K P | V Q W K V I H S V p.560
. . . . | 15 . . g.62592
TTAGAAGAAAGAAGAGATAATGTTGCTGTCATGGCAACTG | GATATGGAAAGAGTTTGTGC c.1740
L E E R R D N V A V M A T G | Y G K S L C p.580
. . . . . . g.62652
TTCCAGTATCCACCTGTTTATGTAGGCAAGATTGGCCTTGTTATCTCTCCCCTTATTTCT c.1800
F Q Y P P V Y V G K I G L V I S P L I S p.600
. . | 16 . . . g.63599
CTGATGGAAGACCAAGTGCTACAGCTTAA | AATGTCCAACATCCCAGCTTGCTTCCTTGGA c.1860
L M E D Q V L Q L K | M S N I P A C F L G p.620
. . . | 17 . . g.68528
TCAGCACAGTCAGAAAATGTTCTAACAGATATTAAATT | AGGTAAATACCGGATTGTATAC c.1920
S A Q S E N V L T D I K L | G K Y R I V Y p.640
. . . . . . g.68588
GTAACTCCAGAATACTGTTCAGGTAACATGGGCCTGCTCCAGCAACTTGAGGCTGATATT c.1980
V T P E Y C S G N M G L L Q Q L E A D I p.660
| 18 . . . . . . g.72646
G | GTATCACGCTCATTGCTGTGGATGAGGCTCACTGTATTTCTGAGTGGGGGCATGATTTT c.2040
G | I T L I A V D E A H C I S E W G H D F p.680
. . . . | 19 . g.83365
AGGGATTCATTCAGGAAGTTGGGCTCCCTAAAGACAGCACTGCCAATG | GTTCCAATCGTT c.2100
R D S F R K L G S L K T A L P M | V P I V p.700
. . . . . . g.83425
GCACTTACTGCTACTGCAAGTTCTTCAATCCGGGAAGACATTGTACGTTGCTTAAATCTG c.2160
A L T A T A S S S I R E D I V R C L N L p.720
. . . . . . g.83485
AGAAATCCTCAGATCACCTGTACTGGTTTTGATCGACCAAACCTGTATTTAGAAGTTAGG c.2220
R N P Q I T C T G F D R P N L Y L E V R p.740
. . . . . | 20 . g.88099
CGAAAAACAGGGAATATCCTTCAGGATCTGCAGCCATTTCTTGTCAAAACAAG | TTCCCAC c.2280
R K T G N I L Q D L Q P F L V K T S | S H p.760
. . . . . . g.88159
TGGGAATTTGAAGGTCCAACAATCATCTACTGTCCTTCTAGAAAAATGACACAACAAGTT c.2340
W E F E G P T I I Y C P S R K M T Q Q V p.780
. . . . . . g.88219
ACAGGTGAACTTAGGAAACTGAATCTATCCTGTGGAACATACCATGCGGGCATGAGTTTT c.2400
T G E L R K L N L S C G T Y H A G M S F p.800
. . . . | 21 . g.91993
AGCACAAGGAAAGACATTCATCATAGGTTTGTAAGAGATGAAATTCAG | TGTGTCATAGCT c.2460
S T R K D I H H R F V R D E I Q | C V I A p.820
. . . . . . g.92053
ACCATAGCTTTTGGAATGGGCATTAATAAAGCTGACATTCGCCAAGTCATTCATTACGGT c.2520
T I A F G M G I N K A D I R Q V I H Y G p.840
. . . . . . g.92113
GCTCCTAAGGACATGGAATCATATTATCAGGAGATTGGTAGAGCTGGTCGTGATGGACTT c.2580
A P K D M E S Y Y Q E I G R A G R D G L p.860
. . . . . | 22 . g.96270
CAAAGTTCTTGTCACGTCCTCTGGGCTCCTGCAGACATTAACTTAAATAG | GCACCTTCTT c.2640
Q S S C H V L W A P A D I N L N R | H L L p.880
. . . . . . g.96330
ACTGAGATACGTAATGAGAAGTTTCGATTATACAAATTAAAGATGATGGCAAAGATGGAA c.2700
T E I R N E K F R L Y K L K M M A K M E p.900
. . . | 23 . . . g.96674
AAATATCTTCATTCTAGCAGATGTAGGAGACA | AATCATCTTGTCTCATTTTGAGGACAAA c.2760
K Y L H S S R C R R Q | I I L S H F E D K p.920
. . . . . . g.96734
CAAGTACAAAAAGCCTCCTTGGGAATTATGGGAACTGAAAAATGCTGTGATAATTGCAGG c.2820
Q V Q K A S L G I M G T E K C C D N C R p.940
| 24 . . . . . . g.104158
TCCAG | ATTGGATCATTGCTATTCCATGGATGACTCAGAGGATACATCCTGGGACTTTGGT c.2880
S R | L D H C Y S M D D S E D T S W D F G p.960
. . . . . . g.104218
CCACAAGCATTTAAGCTTTTGTCTGCTGTGGACATCTTAGGCGAAAAATTTGGAATTGGG c.2940
P Q A F K L L S A V D I L G E K F G I G p.980
. . | 25. . . . g.113201
CTTCCAATTTTATTTCTCCGAGGATCT | AATTCTCAGCGTCTTGCCGATCAATATCGCAGG c.3000
L P I L F L R G S | N S Q R L A D Q Y R R p.1000
. . . . . . g.113261
CACAGTTTATTTGGCACTGGCAAGGATCAAACAGAGAGTTGGTGGAAGGCTTTTTCCCGT c.3060
H S L F G T G K D Q T E S W W K A F S R p.1020
. . . . . . g.113321
CAGCTGATCACTGAGGGATTCTTGGTAGAAGTTTCTCGGTATAACAAATTTATGAAGATT c.3120
Q L I T E G F L V E V S R Y N K F M K I p.1040
. | 26 . . . . g.113461
TGCGCCCTTACGAAAAAG | GGTAGAAATTGGCTTCATAAAGCTAATACAGAATCTCAGAGC c.3180
C A L T K K | G R N W L H K A N T E S Q S p.1060
. . . . . | 27 . g.114371
CTCATCCTTCAAGCTAATGAAGAATTGTGTCCAAAGAAGTTGCTTCTGCCTAG | TTCGAAA c.3240
L I L Q A N E E L C P K K L L L P S | S K p.1080
. . . . . . g.114431
ACTGTATCTTCGGGCACCAAAGAGCATTGTTATAATCAAGTACCAGTTGAATTAAGTACA c.3300
T V S S G T K E H C Y N Q V P V E L S T p.1100
| 28 . . . . . g.115339
GAGAAGAAG | TCTAACTTGGAGAAGTTATATTCTTATAAACCATGTGATAAGATTTCTTCT c.3360
E K K | S N L E K L Y S Y K P C D K I S S p.1120
. . | 29 . . . . g.118828
GGGAGTAACATTTCTAAAAAAAG | TATCATGGTACAGTCACCAGAAAAAGCTTACAGTTCC c.3420
G S N I S K K S | I M V Q S P E K A Y S S p.1140
. . . | 30 . . g.119123
TCACAGCCTGTTATTTCGGCACAAGAGCAGGAGACTCAG | ATTGTGTTATATGGCAAATTG c.3480
S Q P V I S A Q E Q E T Q | I V L Y G K L p.1160
. . . . . . g.119183
GTAGAAGCTAGGCAGAAACATGCCAATAAAATGGATGTTCCCCCAGCTATTCTGGCAACA c.3540
V E A R Q K H A N K M D V P P A I L A T p.1180
. . . | 31 . . . g.122107
AACAAGATACTGGTGGATATGGCCAAAATGAG | ACCAACTACGGTTGAAAACGTAAAAAGG c.3600
N K I L V D M A K M R | P T T V E N V K R p.1200
. . . . . . g.122167
ATTGATGGTGTTTCTGAAGGCAAAGCTGCCATGTTGGCCCCTCTGTTGGAAGTCATCAAA c.3660
I D G V S E G K A A M L A P L L E V I K p.1220
. . | 32. . . . g.126395
CATTTCTGCCAAACAAATAGTGTTCAG | ACAGACCTCTTTTCAAGTACAAAACCTCAAGAA c.3720
H F C Q T N S V Q | T D L F S S T K P Q E p.1240
. . . . . . g.126455
GAACAGAAGACGAGTCTGGTAGCAAAAAATAAAATATGCACACTTTCACAGTCTATGGCC c.3780
E Q K T S L V A K N K I C T L S Q S M A p.1260
. . . | 33 . . g.129127
ATCACATACTCTTTATTCCAAGAAAAGAAGATGCCTTTG | AAGAGCATAGCTGAGAGCAGG c.3840
I T Y S L F Q E K K M P L | K S I A E S R p.1280
. . . . . . g.129187
ATTCTGCCTCTCATGACAATTGGCATGCACTTATCCCAAGCGGTGAAAGCTGGCTGCCCC c.3900
I L P L M T I G M H L S Q A V K A G C P p.1300
. . . . . . g.129247
CTTGATTTGGAGCGAGCAGGCCTGACTCCAGAGGTTCAGAAGATTATTGCTGATGTTATC c.3960
L D L E R A G L T P E V Q K I I A D V I p.1320
. . | 34 . . . . g.138798
CGAAACCCTCCCGTCAACTCAG | ATATGAGTAAAATTAGCCTAATCAGAATGTTAGTTCCT c.4020
R N P P V N S D | M S K I S L I R M L V P p.1340
. . . . . . g.138858
GAAAACATTGACACGTACCTTATCCACATGGCAATTGAGATCCTTAAACATGGTCCTGAC c.4080
E N I D T Y L I H M A I E I L K H G P D p.1360
. . . . . . g.138918
AGCGGACTTCAACCTTCATGTGATGTCAACAAAAGGAGATGTTTTCCCGGTTCTGAAGAG c.4140
S G L Q P S C D V N K R R C F P G S E E p.1380
. . . . . | 35 . g.144742
ATCTGTTCAAGTTCTAAGAGAAGCAAGGAAGAAGTAGGCATCAATACTGAG | ACTTCATCT c.4200
I C S S S K R S K E E V G I N T E | T S S p.1400
. . . . . . g.144802
GCAGAGAGAAAGAGACGATTACCTGTGTGGTTTGCCAAAGGAAGTGATACCAGCAAGAAA c.4260
A E R K R R L P V W F A K G S D T S K K p.1420
. . . g.144841
TTAATGGACAAAACGAAAAGGGGAGGTCTTTTTAGTTAA c.4299
L M D K T K R G G L F S X p.1432
. . . . . . g.144901
gctggcaattaccagaacaattatgtttcttgctgtattataagaggatagctatatttt c.*60
. . . . . . g.144961
atttctgaagagtaaggagtagtattttggcttaaaaatcattctaattacaaagttcac c.*120
. . . . . . g.145021
tgtttattgaagaactggcatcttaaatcagccttccgcaattcatgtagtttctgggtc c.*180
. . . . . . g.145081
ttctgggagcctacgtgagtacatcacctaacagaatattaaattagacttcctgtaaga c.*240
. . . . . . g.145141
ttgctttaagaaactgttactgtcctgttttctaatctctttattaaaacagtgtatttg c.*300
. . . . . . g.145201
gaaaatgttatgtgctctgatttgatatagataacagattagtagttacatggtaattat c.*360
. . . . . . g.145261
gtgatataaaatattcatatattatcaaaattctgttttgtaaatgtaagaaagcatagt c.*420
. . . . . . g.145321
tattttacaaattgtttttactgtcttttgaagaagttcttaaatacgttgttaaatggt c.*480
. . . . . . g.145381
attagttgaccagggcagtgaaaatgaaaccgcattttgggtgccattaaatagggaaaa c.*540
. . . . . . g.145441
aacatgtaaaaaatgtaaaatggagaccaattgcactaggcaagtgtatattttgtattt c.*600
. . . . . g.145500
tatatacaatttctattatttttcaagtaataaaacaatgtttttcatactgaatatta c.*659
(downstream sequence)
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