(used for variant description)
(last modified May 12, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_005430.3 in the WNT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering WNT1 transcript NM_005430.3.
(upstream sequence)
. g.5018
gcggtgccgcccgccgtg c.-181
. . . . . . g.5078
gccgcctcagcccaccagccgggaccgcgagccatgctgtccgccgcccgcccccagggt c.-121
. . . . . . g.5138
tgttaaagccagactgcgaactctcgccactgccgccaccgccgcgtcccgtcccaccgt c.-61
. . . . . . g.5198
cgcgggcaacaaccaaagtcgccgcaactgcagcacagagcgggcaaagccaggcaggcc c.-1
. . . . . . g.5258
ATGGGGCTCTGGGCGCTGTTGCCTGGCTGGGTTTCTGCTACGCTGCTGCTGGCGCTGGCC c.60
M G L W A L L P G W V S A T L L L A L A p.20
. . . . | 02 . . g.6031
GCTCTGCCCGCAGCCCTGGCTGCCAACAGCAGTGGCCGATGGTG | GGGTATTGTGAACGTA c.120
A L P A A L A A N S S G R W W | G I V N V p.40
. . . . . . g.6091
GCCTCCTCCACGAACCTGCTTACAGACTCCAAGAGTCTGCAACTGGTACTCGAGCCCAGT c.180
A S S T N L L T D S K S L Q L V L E P S p.60
. . . . . . g.6151
CTGCAGCTGTTGAGCCGCAAACAGCGGCGTCTGATACGCCAAAATCCGGGGATCCTGCAC c.240
L Q L L S R K Q R R L I R Q N P G I L H p.80
. . . . . . g.6211
AGCGTGAGTGGGGGGCTGCAGAGTGCCGTGCGCGAGTGCAAGTGGCAGTTCCGGAATCGC c.300
S V S G G L Q S A V R E C K W Q F R N R p.100
. . . . . | 03 g.6973
CGCTGGAACTGTCCCACTGCTCCAGGGCCCCACCTCTTCGGCAAGATCGTCAACCGAG | GC c.360
R W N C P T A P G P H L F G K I V N R G | p.120
. . . . . . g.7033
TGTCGAGAAACGGCGTTTATCTTCGCTATCACCTCCGCCGGGGTCACCCATTCGGTGGCG c.420
C R E T A F I F A I T S A G V T H S V A p.140
. . . . . . g.7093
CGCTCCTGCTCAGAAGGTTCCATCGAATCCTGCACGTGTGACTACCGGCGGCGCGGCCCC c.480
R S C S E G S I E S C T C D Y R R R G P p.160
. . . . . . g.7153
GGGGGCCCCGACTGGCACTGGGGGGGCTGCAGCGACAACATTGACTTCGGCCGCCTCTTC c.540
G G P D W H W G G C S D N I D F G R L F p.180
. . . . . . g.7213
GGCCGGGAGTTCGTGGACTCCGGGGAGAAGGGGCGGGACCTGCGCTTCCTCATGAACCTT c.600
G R E F V D S G E K G R D L R F L M N L p.200
. . | 04 . . . . g.7735
CACAACAACGAGGCAGGCCGTACG | ACCGTATTCTCCGAGATGCGCCAGGAGTGCAAGTGC c.660
H N N E A G R T | T V F S E M R Q E C K C p.220
. . . . . . g.7795
CACGGGATGTCCGGCTCATGCACGGTGCGCACGTGCTGGATGCGGCTGCCCACGCTGCGC c.720
H G M S G S C T V R T C W M R L P T L R p.240
. . . . . . g.7855
GCCGTGGGCGATGTGCTGCGCGACCGCTTCGACGGCGCCTCGCGCGTCCTGTACGGCAAC c.780
A V G D V L R D R F D G A S R V L Y G N p.260
. . . . . . g.7915
CGCGGCAGCAACCGCGCTTCGCGGGCGGAGCTGCTGCGCCTGGAGCCGGAAGACCCGGCC c.840
R G S N R A S R A E L L R L E P E D P A p.280
. . . . . . g.7975
CACAAACCGCCCTCCCCCCACGACCTCGTCTACTTCGAGAAATCGCCCAACTTCTGCACG c.900
H K P P S P H D L V Y F E K S P N F C T p.300
. . . . . . g.8035
TACAGCGGACGCCTGGGCACAGCAGGCACGGCAGGGCGCGCCTGTAACAGCTCGTCGCCC c.960
Y S G R L G T A G T A G R A C N S S S P p.320
. . . . . . g.8095
GCGCTGGACGGCTGCGAGCTGCTCTGCTGCGGCAGGGGCCACCGCACGCGCACGCAGCGC c.1020
A L D G C E L L C C G R G H R T R T Q R p.340
. . . . . . g.8155
GTCACCGAGCGCTGCAACTGCACCTTCCACTGGTGCTGCCACGTCAGCTGCCGCAACTGC c.1080
V T E R C N C T F H W C C H V S C R N C p.360
. . . g.8188
ACGCACACGCGCGTACTGCACGAGTGTCTGTGA c.1113
T H T R V L H E C L X p.370
. . . . . . g.8248
ggcgctgcgcggactcgcccccaggaacgctctcctcgagccctcccccaaacagactcg c.*60
. . . . . . g.8308
ctagcactcaagacccggttattcgcccacccgagtacctccagtcacactccccgcggt c.*120
. . . . . . g.8368
tcatacgcatcccatctctcccacttcctcctacctggggactcctcaaaccacttgcct c.*180
. . . . . . g.8428
ggggcggcatgaaccctcttgccatcctgatggacctgccccggacctacctccctccct c.*240
. . . . . . g.8488
ctccgcgggagaccccttgttgcactgccccctgcttggccaggaggtgagagaaggatg c.*300
. . . . . . g.8548
ggtcccctccgccatggggtcggctcctgatggtgtcattctgcctgctccatcgcgcca c.*360
. . . . . . g.8608
gcgacctctctgcctctcttcttcccctttgtcctgcgttttctccgggtcctcctaagt c.*420
. . . . . . g.8668
cccttcctattctcctgccatgggtgcagaccctgaacccacacctgggcatcagggcct c.*480
. . . . . . g.8728
ttctcctccccacctgtagctgaagcaggaggttacagggcaaaagggcagctgtgatga c.*540
. . . . . . g.8788
tgtggaaatgaggttgggggaaccagcagaaatgcccccattctcccagtctctgtcgtg c.*600
. . . . . . g.8848
gagccattgaacagctgtgagccatgcctccctgggccacctcctaccccttcctgtcct c.*660
. . . . . . g.8908
gcctcctcatcagtgtgtaaataatttgcactgaaacgtggatacagagccacgagtttg c.*720
. . . . . . g.8968
gatgttgtaaataaaactatttattgtgctgggtcccagcctggtttgcaaagaccacct c.*780
. . . . . . g.9028
ccaacccaacccaatccctctccactcttctctcctttctccctgcagccttttctggtc c.*840
. . . . . . g.9088
cctcttctctcctcagtttctcaaagatgcgtttgcctcctggaatcagtatttccttcc c.*900
. . . . . . g.9148
actgtagctattagcggctcctcgcccccaccagtgtagcatcttcctctgcagaataaa c.*960
. g.9161
atctctattttta c.*973
(downstream sequence)
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