(used for variant description)
(last modified July 24, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_003931.2 in the WASF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering WASF1 transcript NM_003931.2.
(upstream sequence)
. . . . . g.5057
agcagtgttctcttcgtccccctcccccaaactgaggattgggcaataccacagaac c.-781
. . . . . . g.5117
ctcaggaaaggggggaagagcgagcttcggccccactaatgggggagtgggcggaggctg c.-721
. . . . . . g.5177
gatttcccacctcggctgcacctgggcactggaggctgaagaggaaagtgagaatctgaa c.-661
. . . . . . g.5237
gttttgagacctctgactggccaggaatagctcctggggcggggggcaaggatgggacca c.-601
. . . . . . g.5297
taggcggaaagagtctcgcggtcccccctgcttctggcgcgggtccctgcgcccggttgt c.-541
. . . . . . g.5357
ggagcgtctcgcgcggggagggggcggggggaacggcagctcgcggtgttgttcactcgc c.-481
. . . . . . g.5417
gcgtcgagcacacggtgggtccggcggcgggttggcgccccaggcggcgttccctgtggc c.-421
. . . . . . g.5477
ctggcgcctgggccgctgccctgagcgggttccgccccagagcccgaccctcctgggggc c.-361
. . . . . . g.5537
tctaggcggagtcccgcgagccgagggggaccggcgaccgctgccgaagcatgaagaagg c.-301
. . . | 02 . . g.6293
ggtaaggcgtgagcccccaagatttcacg | catgccccctagcttcggtactctgacacct c.-241
. . . . . . g.6353
tctcttgcacttgcggatgatgaactggaataacgatgaaagaaagcacatccgatctca c.-181
. . . . . . | 03 g.24278
acattcacgtcctgccctataaccgattaattaattgatccccagctagactag | tgttgg c.-121
. . . . . . g.24338
agaaatcagcatgttaaaacaactgttgatgatagctgttggagtaaagttgcagtggaa c.-61
. . . . | 04 . . g.57403
gctatggctgcaaaatcgttaaaatcttcaag | gtgaactggcacaaaggttaatctcaag c.-1
. . . . . . g.57463
ATGCCGCTAGTGAAAAGAAACATCGATCCTAGGCACTTGTGCCACACAGCACTGCCTAGA c.60
M P L V K R N I D P R H L C H T A L P R p.20
. . . . . . g.57523
GGCATTAAGAATGAACTGGAATGTGTAACCAATATTTCCTTGGCAAATATAATTAGACAA c.120
G I K N E L E C V T N I S L A N I I R Q p.40
. | 05 . . . . . g.71591
CTAAGTAGCCTAA | GTAAATATGCTGAAGATATATTTGGAGAATTATTCAATGAAGCACAT c.180
L S S L S | K Y A E D I F G E L F N E A H p.60
. . . . . . g.71651
AGTTTTTCCTTCAGAGTCAACTCATTGCAAGAACGTGTGGACCGTTTATCTGTTAGTGTT c.240
S F S F R V N S L Q E R V D R L S V S V p.80
. . | 06 . . . g.76355
ACACAGCTTGATCCAAAGGAAGAAGAAT | TGTCTTTGCAAGATATAACAATGAGGAAAGCT c.300
T Q L D P K E E E L | S L Q D I T M R K A p.100
. . . . . . g.76415
TTCCGAAGTTCTACAATTCAAGACCAGCAGCTTTTCGATCGCAAGACTTTGCCTATTCCA c.360
F R S S T I Q D Q Q L F D R K T L P I P p.120
. . . . . . g.76475
TTACAGGAGACGTACGATGTTTGTGAACAGCCTCCACCTCTCAATATACTCACTCCTTAT c.420
L Q E T Y D V C E Q P P P L N I L T P Y p.140
| 07 . . . . . . g.77868
AG | AGATGATGGTAAAGAAGGTCTGAAGTTTTATACCAATCCTTCGTATTTCTTTGATCTA c.480
R | D D G K E G L K F Y T N P S Y F F D L p.160
. . . . . . g.77928
TGGAAAGAAAAAATGTTGCAAGATACAGAGGATAAGAGGAAGGAAAAGAGGAAGCAGAAG c.540
W K E K M L Q D T E D K R K E K R K Q K p.180
| 08 . . . . . . g.79485
| CAGAAAAATCTAGATCGTCCTCATGAACCAGAAAAAGTGCCAAGAGCACCTCATGACAGG c.600
| Q K N L D R P H E P E K V P R A P H D R p.200
. . . . . . g.79545
CGGCGAGAATGGCAGAAGCTGGCCCAAGGTCCAGAGCTGGCTGAAGATGATGCTAATCTC c.660
R R E W Q K L A Q G P E L A E D D A N L p.220
. . . . . | 09 . g.81454
TTACATAAGCATATTGAAGTTGCTAATGGCCCAGCCTCTCATTTTGAAACAAG | ACCTCAG c.720
L H K H I E V A N G P A S H F E T R | P Q p.240
. . . . . . g.81514
ACATACGTGGATCATATGGATGGATCTTACTCACTTTCTGCCTTGCCATTTAGTCAGATG c.780
T Y V D H M D G S Y S L S A L P F S Q M p.260
. . . . . . g.81574
AGTGAGCTTCTGACTAGAGCTGAGGAAAGGGTATTAGTCAGACCACATGAACCACCTCCA c.840
S E L L T R A E E R V L V R P H E P P P p.280
. . . . . | 10 . g.82795
CCTCCACCAATGCATGGAGCAGGAGATGCAAAACCGATACCCACCTGTATCAG | TTCTGCT c.900
P P P M H G A G D A K P I P T C I S | S A p.300
. . . . . . g.82855
ACAGGTTTGATAGAAAATCGCCCTCAGTCACCAGCTACAGGCAGAACACCTGTGTTTGTG c.960
T G L I E N R P Q S P A T G R T P V F V p.320
. . . . . . g.82915
AGCCCCACTCCCCCACCTCCTCCACCACCTCTTCCATCTGCCTTGTCAACTTCCTCATTA c.1020
S P T P P P P P P P L P S A L S T S S L p.340
. . . . . . g.82975
AGAGCTTCAATGACTTCAACTCCTCCCCCTCCAGTACCTCCCCCACCTCCACCTCCAGCC c.1080
R A S M T S T P P P P V P P P P P P P A p.360
. . . . . . g.83035
ACTGCTTTGCAAGCTCCAGCAGTACCACCACCTCCAGCTCCTCTTCAGATTGCCCCTGGA c.1140
T A L Q A P A V P P P P A P L Q I A P G p.380
. . . . . . g.83095
GTTCTTCACCCAGCTCCTCCTCCAATTGCACCTCCTCTAGTACAGCCCTCTCCACCAGTA c.1200
V L H P A P P P I A P P L V Q P S P P V p.400
. . . . . . g.83155
GCTAGAGCTGCCCCAGTATGTGAGACTGTACCAGTTCATCCACTCCCACAAGGTGAAGTT c.1260
A R A A P V C E T V P V H P L P Q G E V p.420
. . . . . . g.83215
CAGGGGCTGCCTCCACCCCCACCACCGCCTCCTCTGCCTCCACCTGGCATTCGACCATCA c.1320
Q G L P P P P P P P P L P P P G I R P S p.440
. . . . . . g.83275
TCACCTGTCACAGTTACAGCTCTTGCTCATCCTCCCTCTGGGCTACATCCAACTCCATCT c.1380
S P V T V T A L A H P P S G L H P T P S p.460
. . . . . . g.83335
ACTGCCCCAGGTCCCCATGTTCCATTAATGCCTCCATCTCCTCCATCACAAGTTATACCT c.1440
T A P G P H V P L M P P S P P S Q V I P p.480
. . . . . . g.83395
GCTTCTGAGCCAAAGCGCCATCCATCAACCCTACCTGTAATCAGTGATGCCAGGAGTGTG c.1500
A S E P K R H P S T L P V I S D A R S V p.500
. . | 11 . . . . g.84363
CTACTGGAAGCAATACGAAAAG | GTATTCAGCTACGCAAAGTAGAAGAGCAGCGTGAACAG c.1560
L L E A I R K G | I Q L R K V E E Q R E Q p.520
. . . . . . g.84423
GAAGCTAAGCATGAACGCATTGAAAACGATGTTGCCACCATCCTGTCTCGCCGTATTGCT c.1620
E A K H E R I E N D V A T I L S R R I A p.540
. . . . . . g.84483
GTTGAATATAGTGATTCGGAAGATGATTCAGAATTTGATGAAGTAGATTGGTTGGAGTAA c.1680
V E Y S D S E D D S E F D E V D W L E X p.559
. . . . . . g.84543
gaaaaatgcattgataaatattacaaaactgaatgcaaatgtcctttgtggtgcttgttc c.*60
. . . . . . g.84603
cttgaaaatgtttggtcattctagtgttttgctttcttttccttataataaatgaccctt c.*120
. . . . . . g.84663
ttcctccataacttttgatttctaaggaaaatattagcatacatttcaaactaaatgttt c.*180
. . . . . . g.84723
tacagtggcttatcttttttttccccctgaaaagactaatttggtcaaataaaccactaa c.*240
. . . . . . g.84783
gtattaagcatggacagctgttgttagagtagcagattcagttttttgatatatcttaat c.*300
. . . . . . g.84843
tgtgtactttgtgaattttaatttaaagaaagcaactgaaattgaaatcttgagggcagc c.*360
. . . . . . g.84903
tgtgtctactaatgagccttattccatttcctgatgttttaaaagaagaaacactgcctt c.*420
. . . . . . g.84963
gattatacgaatacactcagaaagtacatttagcttgtagtgttgaattctcttaaagga c.*480
. . . . . . g.85023
atgcttgaattttttcattattgttttattgtttttatatacttgccttatttgaatgtt c.*540
. . . . . . g.85083
tagcagtatccccttcccacttatatattgtgtgatatgattttgcttgcctataggagt c.*600
. . . . . . g.85143
taaaaacttttccatgtgaaatactctgacttaaacatacatgtaacttacataactgtt c.*660
. . . . g.85186
aagaataacagtctgatttaataaatggttcattttaaaagtt c.*703
(downstream sequence)
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