(used for variant description)
(last modified November 11, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_003392.4 in the WNT5A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031992.1, covering WNT5A transcript NM_003392.4.
(upstream sequence)
. . . . . g.5057
actaactcgcggctgcaggatcagcgtctggaagcagacgtttcggctacagaccca c.-601
. . . . . . g.5117
gagaggaggagctggagatcaggaggcgtgagccgccaagagtttgcagaatctgtggtg c.-541
. . . . . . g.5177
tgaatgaactgggggcacctgggcgcacagatcgccccccttcccccgccccgggccaca c.-481
. . . . . . g.5237
gttgagtagtggtacatttttttcaccctcttgtgaagaatttctttttattattatttg c.-421
. . . . . . g.5297
tcgtaaggtcttttgcacaatcacgcccacatttggggttggaaagccctaattaccgcc c.-361
. . . . . . g.5357
gtcgctgatggacgttggaaacggagcgcctctccgtggaacagttgcctgcgcgccctc c.-301
. . . . . . g.5417
gccggaccggcggctccctagttgcgccccgaccaggccctgcccttgctgccggctcgc c.-241
. . . . . . g.5477
gcgcgtccgcgccccctccattcctgggcgcatcccagctctgccccaactcgggagtcc c.-181
. . . . . . g.5537
aggcccgggcgccagtgcccgcttcagctccggttcactgcgcccgccggacgcgcgccg c.-121
. . . . . . g.5597
gaggactccgcagccctgctcctgaccgtccccccaggcttaacccggtcgctccgctcg c.-61
. . . . . . g.5657
gattcctcggctgcgctcgctcgggtggcgacttcctccccgcgccccctccccctcgcc c.-1
| 02 . . . . . . g.11778
ATGAAG | AAGTCCATTGGAATATTAAGCCCAGGAGTTGCTTTGGGGATGGCTGGAAGTGCA c.60
M K | K S I G I L S P G V A L G M A G S A p.20
. . . . . . g.11838
ATGTCTTCCAAGTTCTTCCTAGTGGCTTTGGCCATATTTTTCTCCTTCGCCCAGGTTGTA c.120
M S S K F F L V A L A I F F S F A Q V V p.40
. . | 03 . . . . g.13118
ATTGAAGCCAATTCTTGGTG | GTCGCTAGGTATGAATAACCCTGTTCAGATGTCAGAAGTA c.180
I E A N S W W | S L G M N N P V Q M S E V p.60
. . . . . . g.13178
TATATTATAGGAGCACAGCCTCTCTGCAGCCAACTGGCAGGACTTTCTCAAGGACAGAAG c.240
Y I I G A Q P L C S Q L A G L S Q G Q K p.80
. . . . . . g.13238
AAACTGTGCCACTTGTATCAGGACCACATGCAGTACATCGGAGAAGGCGCGAAGACAGGC c.300
K L C H L Y Q D H M Q Y I G E G A K T G p.100
. . . . . . g.13298
ATCAAAGAATGCCAGTATCAATTCCGACATCGAAGGTGGAACTGCAGCACTGTGGATAAC c.360
I K E C Q Y Q F R H R R W N C S T V D N p.120
. . . | 04 . . . g.18042
ACCTCTGTTTTTGGCAGGGTGATGCAGATAG | GCAGCCGCGAGACGGCCTTCACATACGCG c.420
T S V F G R V M Q I G | S R E T A F T Y A p.140
. . . . . . g.18102
GTGAGCGCAGCAGGGGTGGTGAACGCCATGAGCCGGGCGTGCCGCGAGGGCGAGCTGTCC c.480
V S A A G V V N A M S R A C R E G E L S p.160
. . . . . . g.18162
ACCTGCGGCTGCAGCCGCGCCGCGCGCCCCAAGGACCTGCCGCGGGACTGGCTCTGGGGC c.540
T C G C S R A A R P K D L P R D W L W G p.180
. . . . . . g.18222
GGCTGCGGCGACAACATCGACTATGGCTACCGCTTTGCCAAGGAGTTCGTGGACGCCCGC c.600
G C G D N I D Y G Y R F A K E F V D A R p.200
. . . . . . g.18282
GAGCGGGAGCGCATCCACGCCAAGGGCTCCTACGAGAGTGCTCGCATCCTCATGAACCTG c.660
E R E R I H A K G S Y E S A R I L M N L p.220
. . | 05 . . . . g.22128
CACAACAACGAGGCCGGCCGCAGG | ACGGTGTACAACCTGGCTGATGTGGCCTGCAAGTGC c.720
H N N E A G R R | T V Y N L A D V A C K C p.240
. . . . . . g.22188
CATGGGGTGTCCGGCTCATGTAGCCTGAAGACATGCTGGCTGCAGCTGGCAGACTTCCGC c.780
H G V S G S C S L K T C W L Q L A D F R p.260
. . . . . . g.22248
AAGGTGGGTGATGCCCTGAAGGAGAAGTACGACAGCGCGGCGGCCATGCGGCTCAACAGC c.840
K V G D A L K E K Y D S A A A M R L N S p.280
. . . . . . g.22308
CGGGGCAAGTTGGTACAGGTCAACAGCCGCTTCAACTCGCCCACCACACAAGACCTGGTC c.900
R G K L V Q V N S R F N S P T T Q D L V p.300
. . . . . . g.22368
TACATCGACCCCAGCCCTGACTACTGCGTGCGCAATGAGAGCACCGGCTCGCTGGGCACG c.960
Y I D P S P D Y C V R N E S T G S L G T p.320
. . . . . . g.22428
CAGGGCCGCCTGTGCAACAAGACGTCGGAGGGCATGGATGGCTGCGAGCTCATGTGCTGC c.1020
Q G R L C N K T S E G M D G C E L M C C p.340
. . . . . . g.22488
GGCCGTGGCTACGACCAGTTCAAGACCGTGCAGACGGAGCGCTGCCACTGCAAGTTCCAC c.1080
G R G Y D Q F K T V Q T E R C H C K F H p.360
. . . . . . g.22548
TGGTGCTGCTACGTCAAGTGCAAGAAGTGCACGGAGATCGTGGACCAGTTTGTGTGCAAG c.1140
W C C Y V K C K K C T E I V D Q F V C K p.380
g.22551
TAG c.1143
X p.380
. . . . . . g.22611
tgggtgccacccagcactcagccccgctcccaggacccgcttatttatagaaagtacagt c.*60
. . . . . . g.22671
gattctggtttttggtttttagaaatattttttatttttccccaagaattgcaaccggaa c.*120
. . . . . . g.22731
ccattttttttcctgttaccatctaagaactctgtggtttattattaatattataattat c.*180
. . . . . . g.22791
tatttggcaataatgggggtgggaaccaagaaaaatatttattttgtggatctttgaaaa c.*240
. . . . . . g.22851
ggtaatacaagacttcttttgatagtatagaatgaaggggaaataacacataccctaact c.*300
. . . . . . g.22911
tagctgtgtggacatggtacacatccagaaggtaaagaaatacattttctttttctcaaa c.*360
. . . . . . g.22971
tatgccatcatatgggatgggtaggttccagttgaaagagggtggtagaaatctattcac c.*420
. . . . . . g.23031
aattcagcttctatgaccaaaatgagttgtaaattctctggtgcaagataaaaggtcttg c.*480
. . . . . . g.23091
ggaaaacaaaacaaaacaaaacaaacctcccttccccagcagggctgctagcttgctttc c.*540
. . . . . . g.23151
tgcattttcaaaatgataatttacaatggaaggacaagaatgtcatattctcaaggaaaa c.*600
. . . . . . g.23211
aaggtatatcacatgtctcattctcctcaaatattccatttgcagacagaccgtcatatt c.*660
. . . . . . g.23271
ctaatagctcatgaaatttgggcagcagggaggaaagtccccagaaattaaaaaatttaa c.*720
. . . . . . g.23331
aactcttatgtcaagatgttgatttgaagctgttataagaattaggattccagattgtaa c.*780
. . . . . . g.23391
aaagatccccaaatgattctggacactagatttttttgtttggggaggttggcttgaaca c.*840
. . . . . . g.23451
taaatgaaaatatcctgttattttcttagggatacttggttagtaaattataatagtaaa c.*900
. . . . . . g.23511
aataatacatgaatcccattcacaggttctcagcccaagcaacaaggtaattgcgtgcca c.*960
. . . . . . g.23571
ttcagcactgcaccagagcagacaacctatttgaggaaaaacagtgaaatccaccttcct c.*1020
. . . . . . g.23631
cttcacactgagccctctctgattcctccgtgttgtgatgtgatgctggccacgtttcca c.*1080
. . . . . . g.23691
aacggcagctccactgggtcccctttggttgtaggacaggaaatgaaacattaggagctc c.*1140
. . . . . . g.23751
tgcttggaaaacagttcactacttagggatttttgtttcctaaaacttttattttgagga c.*1200
. . . . . . g.23811
gcagtagttttctatgttttaatgacagaacttggctaatggaattcacagaggtgttgc c.*1260
. . . . . . g.23871
agcgtatcactgttatgatcctgtgtttagattatccactcatgcttctcctattgtact c.*1320
. . . . . . g.23931
gcaggtgtaccttaaaactgttcccagtgtacttgaacagttgcatttataaggggggaa c.*1380
. . . . . . g.23991
atgtggtttaatggtgcctgatatctcaaagtcttttgtacataacatatatatatatat c.*1440
. . . . . . g.24051
acatatatataaatataaatataaatatatctcattgcagccagtgatttagatttacag c.*1500
. . . . . . g.24111
tttactctggggttatttctctgtctagagcattgttgtccttcactgcagtccagttgg c.*1560
. . . . . . g.24171
gattattccaaaagttttttgagtcttgagcttgggctgtggccctgctgtgatcatacc c.*1620
. . . . . . g.24231
ttgagcacgacgaagcaaccttgtttctgaggaagcttgagttctgactcactgaaatgc c.*1680
. . . . . . g.24291
gtgttgggttgaagatatcttttttcttttctgcctcacccctttgtctccaacctccat c.*1740
. . . . . . g.24351
ttctgttcactttgtggagagggcattacttgttcgttatagacatggacgttaagagat c.*1800
. . . . . . g.24411
attcaaaactcagaagcatcagcaatgtttctcttttcttagttcattctgcagaatgga c.*1860
. . . . . . g.24471
aacccatgcctattagaaatgacagtacttattaattgagtccctaaggaatattcagcc c.*1920
. . . . . . g.24531
cactacatagatagcttttttttttttttttttaataaggacacctctttccaaacagtg c.*1980
. . . . . . g.24591
ccatcaaatatgttcttatctcagacttacgttgttttaaaagtttggaaagatacacat c.*2040
. . . . . . g.24651
ctttcataccccccttaggcaggttggctttcatatcacctcagccaactgtggctctta c.*2100
. . . . . . g.24711
atttattgcataatgatattcacatcccctcagttgcagtgaattgtgagcaaaagatct c.*2160
. . . . . . g.24771
tgaaagcaaaaagcactaattagtttaaaatgtcacttttttggtttttattatacaaaa c.*2220
. . . . . . g.24831
accatgaagtactttttttatttgctaaatcagattgttcctttttagtgactcatgttt c.*2280
. . . . . . g.24891
atgaagagagttgagtttaacaatcctagcttttaaaagaaactatttaatgtaaaatat c.*2340
. . . . . . g.24951
tctacatgtcattcagatattatgtatatcttctagcctttattctgtacttttaatgta c.*2400
. . . . . . g.25011
catatttctgtcttgcgtgatttgtatatttcactggtttaaaaaacaaacatcgaaagg c.*2460
. . . . . . g.25071
cttatgccaaatggaagatagaatataaaataaaacgttacttgtatattggtaagtggt c.*2520
. . . . . . g.25131
ttcaattgtccttcagataattcatgtggagatttttggagaaaccatgacggatagttt c.*2580
. . . . . . g.25191
aggatgactacatgtcaaagtaataaaagagtggtgaattttaccaaaaccaagctattt c.*2640
. . . . . . g.25251
ggaagcttcaaaaggtttctatatgtaatggaacaaaaggggaattctcttttcctatat c.*2700
. . . . . . g.25311
atgttccttacaaaaaaaaaaaaaaaagaaatcaagcagatggcttaaagctggttatag c.*2760
. . . . . . g.25371
gattgctcacattcttttagcattatgcatgtaacttaattgttttagagcgtgttgctg c.*2820
. . . . . . g.25431
ttgtaacatcccagagaagaatgaaaaggcacatgcttttatccgtgaccagatttttag c.*2880
. . . . . . g.25491
tccaaaaaaatgtatttttttgtgtgtttaccactgcaactattgcacctctctatttga c.*2940
. . . . . . g.25551
atttactgtggaccatgtgtggtgtctctatgccctttgaaagcagtttttataaaaaga c.*3000
. . . . . . g.25611
aagcccgggtctgcagagaatgaaaactggttggaaactaaaggttcattgtgttaagtg c.*3060
. . . . . . g.25671
caattaatacaagttattgtgcttttcaaaaatgtacacggaaatctggacagtgctcca c.*3120
. . . . . . g.25731
cagattgatacattagcctttgctttttctctttccggataaccttgtaacatattgaaa c.*3180
. . . . . . g.25791
ccttttaaggatgccaagaatgcattattccacaaaaaaacagcagaccaacatatagag c.*3240
. . . . . . g.25851
tgtttaaaatagcatttctgggcaaattcaaactcttgtggttctaggactcacatctgt c.*3300
. . . . . . g.25911
ttcagtttttcctcagttgtatattgaccagtgttctttattgcaaaaacatatacccga c.*3360
. . . . . . g.25971
tttagcagtgtcagcgtattttttcttctcatcctggagcgtattcaagatcttcccaat c.*3420
. . . . . . g.26031
acaagaaaattaataaaaaatttatatataggcagcagcaaaagagccatgttcaaaata c.*3480
. . . . . . g.26091
gtcattatgggctcaaatagaaagaagacttttaagttttaatccagtttatctgttgag c.*3540
. . . . . . g.26151
ttctgtgagctactgacctcctgagactggcactgtgtaagttttagttgcctaccctag c.*3600
. . . . . . g.26211
ctcttttctcgtacaattttgccaataccaagtttcaatttgtttttacaaaacattatt c.*3660
. . . . . . g.26271
caagccactagaattatcaaatatgacgctatagcagagtaaatactctgaataagagac c.*3720
. . . . . . g.26331
cggtactagctaactccaagagatcgttagcagcatcagtccacaaacacttagtggccc c.*3780
. . . . . . g.26391
acaatatatagagagatagaaaaggtagttataacttgaagcatgtatttaatgcaaata c.*3840
. . . . . . g.26451
ggcacgaaggcacaggtctaaaatactacattgtcactgtaagctatacttttaaaatat c.*3900
. . . . . . g.26511
ttattttttttaaagtattttctagtcttttctctctctgtggaatggtgaaagagagat c.*3960
. . . . . . g.26571
gccgtgttttgaaagtaagatgatgaaatgaatttttaattcaagaaacattcagaaaca c.*4020
. . . . . . g.26631
taggaattaaaacttagagaaatgatctaatttccctgttcacacaaactttacacttta c.*4080
. . . . . . g.26691
atctgatgattggatattttattttagtgaaacatcatcttgttagctaactttaaaaaa c.*4140
. . . . . . g.26751
tggatgtagaatgattaaaggttggtatgatttttttttaatgtatcagtttgaacctag c.*4200
. . . . . . g.26811
aatattgaattaaaatgctgtctcagtattttaaaagcaaaaaaggaatggaggaaaatt c.*4260
. . . . . . g.26871
gcatcttagaccatttttatatgcagtgtacaatttgctgggctagaaatgagataaaga c.*4320
. . . . . g.26928
ttatttatttttgttcatatcttgtacttttctattaaaatcattttatgaaatcca c.*4377
(downstream sequence)
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