(used for variant description)
(last modified June 21, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_147128.3 in the ZNRF2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering ZNRF2 transcript NM_147128.3.
(upstream sequence)
. . . g.5031
gcgggccacgtgcgggaggaggggccgcctt c.-1021
. . . . . . g.5091
ctggttggcgcccggtgtccgttcctcctatcggcgtaggccccgcgaggaagacaaggg c.-961
. . . . . . g.5151
cgcgccctggctgggagggcgtggccagagacctgtccatcaccgagtccacgagtggca c.-901
. . . . . . g.5211
gcacctaccacaccgcagtaccttggcgaggcggagcaggggcaggcaggtcgcggaagg c.-841
. . . . . . g.5271
gggaggcggagcaaggccggcgggagccaatcggcctggcggcacgagggggcgggggcg c.-781
. . . . . . g.5331
gggtcaacgcgcgcgacccaaacacacgggccgggcgcaccctgcagccgcgccgctccg c.-721
. . . . . . g.5391
cggccttccggcgcggggccggggaacctcctccccatctgcgcaccccccgccttcgcg c.-661
. . . . . . g.5451
gcccagatcctcccgccagcccggcccctccttcgcagggggagcgaggcgacggttgcc c.-601
. . . . . . g.5511
gggaagcgcgcgccacctctccctcccatttttcgttctcccctcgcgcgccacccgttt c.-541
. . . . . . g.5571
ttcctctttctccgttaataacagctgggtggctgggggaggagggaaggtggccccggc c.-481
. . . . . . g.5631
ggagtctgggcgggcgcctcccactcagccgccagccgccgtgggagccggaggatggcg c.-421
. . . . . . g.5691
gcggtagcagcggccgcccgagaggaggcggtgccgagatcgggggcgccgagcgcggca c.-361
. . . . . . g.5751
gcagagagcggtagcggcccgtcgtggcgcaccagaaccgaaaccagcggcagccgcacg c.-301
. . . . . . g.5811
gccacttgagccgccccttcctgctggagccagcgaggggtgcctgcagccgggacccct c.-241
. . . . . . g.5871
tcctctccgcgtctcctcgtctcccgcgcccgcgtcaggccgtcggcctcgcccgccgcc c.-181
. . . . . . g.5931
ccaagaagagcgcgccgggcgccgactgcccctctggacgccgggcggcggccctggacg c.-121
. . . . . . g.5991
tgcgggggcctctctgggccggccgcggcgcctgggccctgccctctagctcccgcgctc c.-61
. . . . . . g.6051
gctcccgccctcccggctctcggggcgcagcgcgcgggcccggcccggggcagggcggac c.-1
. . . . . . g.6111
ATGGGCGCCAAACAGAGCGGCCCGGCCGCCGCTAACGGCCGCACGCGCGCGTACTCGGGC c.60
M G A K Q S G P A A A N G R T R A Y S G p.20
. . . . . . g.6171
TCGGATCTACCTTCCAGTAGCAGCGGAGGCGCCAATGGGACCGCGGGCGGCGGCGGGGGC c.120
S D L P S S S S G G A N G T A G G G G G p.40
. . . . . . g.6231
GCTCGGGCCGCCGCCGCGGGGAGGTTCCCGGCTCAGGTGCCCAGCGCGCACCAGCCCAGC c.180
A R A A A A G R F P A Q V P S A H Q P S p.60
. . . . . . g.6291
GCCTCCGGCGGCGCCGCGGCGGCCGCGGCGGCCCCGGCAGCCCCGGCGGCCCCGCGCAGC c.240
A S G G A A A A A A A P A A P A A P R S p.80
. . . . . . g.6351
CGCTCCCTCGGCGGGGCCGTGGGGAGCGTGGCGTCGGGGGCCCGCGCGGCGCAGTCCCCC c.300
R S L G G A V G S V A S G A R A A Q S P p.100
. . . . . . g.6411
TTCAGCATCCCGAACAGCAGCAGCGGCCCGTACGGCTCGCAGGACTCGGTGCACAGCAGC c.360
F S I P N S S S G P Y G S Q D S V H S S p.120
. . . . . . g.6471
CCTGAGGACGGCGGCGGCGGCCGGGACCGGCCGGTGGGCGGGAGCCCCGGCGGGCCGCGC c.420
P E D G G G G R D R P V G G S P G G P R p.140
. . . . | 02 . g.44346
CTGGTGATCGGCTCCTTACCAGCTCACCTCTCGCCGCACATGTTTGGAG | GATTTAAGTGC c.480
L V I G S L P A H L S P H M F G G | F K C p.160
. . . . . . g.44406
CCTGTATGCTCAAAATTTGTATCCTCAGATGAAATGGATTTGCATCTTGTAATGTGTTTA c.540
P V C S K F V S S D E M D L H L V M C L p.180
. . | 03 . . . . g.76456
ACAAAGCCACGAATAACCTATAATG | AGGATGTACTGAGTAAAGATGCTGGGGAATGTGCA c.600
T K P R I T Y N E | D V L S K D A G E C A p.200
. . . . . . g.76516
ATATGCCTTGAAGAATTGCAGCAGGGAGATACTATAGCACGACTGCCTTGTCTATGCATA c.660
I C L E E L Q Q G D T I A R L P C L C I p.220
. | 04 . . . . . g.83119
TATCATAAAGG | CTGCATAGATGAATGGTTTGAAGTAAATAGATCTTGCCCTGAGCACCCT c.720
Y H K G | C I D E W F E V N R S C P E H P p.240
g.83128
TCAGATTAA | c.730
S D X p.242
. . | 05 . . . . g.86766
gcgtcagcttcctgttttatag | gttttcttgtcttgacaagatgcttgaaaaaccaagag c.*60
. . . . . . g.86826
gatatgaaaatctgtctctggagaaacaaagacgcaggcatactcagccagaaatctgag c.*120
. . . . . . g.86886
ttttgtgagacttggtaatacagagatggacaatcgtactggggtaaaaaaaccctgctg c.*180
. . . . . . g.86946
aagagaggacagtgaccacagaactcagtgtaccaaacatgcatacaaaggacacacagg c.*240
. . . . . . g.87006
gattttgaaaatgctgcacatcccttaatagtcatctacataggtaatactgataaacat c.*300
. . . . . . g.87066
tttgtattcagacgccaaagttaactgatttaaaagttgatttactttttattaagttct c.*360
. . . . . . g.87126
ccagagctgcacaactagttatgttttgatttgttttgttttttaatttggggtctcttt c.*420
. . . . . . g.87186
gttttccccaacataatgttcataatgtttctgcattcatctgttcttaaattgaaaaac c.*480
. . . . . . g.87246
atataatttacttcttataaattgaagtcttaaatgtgaaaccaagaaatgtaatcaagc c.*540
. . . . . . g.87306
agtaaaaacatctgaatgtagaccatgatctcaagttcttccattttctcccccacgagt c.*600
. . . . . . g.87366
ggaaaatagacttctacataggaaagctaaaatatgttaatatttttaaattaaaggttt c.*660
. . . . . . g.87426
aatatcagaatgcagtccaaagagcaaatcatattacataattacattttaattaaatat c.*720
. . . . . . g.87486
agaatattctactgaattgcaatttattaaatattcttatcctcttaaataaaactgctc c.*780
. . . . . . g.87546
aacagttaatcagcagtgaatcatcttgcagctatgcaatttaaaaaaaatacagattac c.*840
. . . . . . g.87606
caatttcaagtgctgccagctaaaataactgttttaacgggtatcttttgtttgttcttt c.*900
. . . . . . g.87666
tcacttaattattttattgtgctttgcatctccaggcagttctctcacatttgggtaaaa c.*960
. . . . . . g.87726
tgtttagcaggctgtaaacttaagaaaagggtaaaataaaattttctggagaggaacttg c.*1020
. . . . . . g.87786
gaatttgagggagattttatatacctttaaaaactgtaatttaattgggatgccaggttt c.*1080
. . . . . . g.87846
atagcaatttgcaactttaattttccagataatctggaggttagcatttgataaatgatt c.*1140
. . . . . . g.87906
ttttaaagtagatatgaagattttgttaatttataatttattcatgtgttattactgtaa c.*1200
. . . . . . g.87966
ttgaaaatgttatagacacttttaaattcagtttgtgtagaaagaaatgtgttaaacaaa c.*1260
. . . . . . g.88026
attatgttaataaatattcccacataatacatctgaatggttaaaaatactggaagagtt c.*1320
. . . . . . g.88086
gtcagggctacaatagtgaatgtccttttttttaatatcaaaaatatcgataagtaggtt c.*1380
. . . . . . g.88146
ttgtgttttcaacgtagggaaaatgttatcagtgaataggtggtgtactttacttggtat c.*1440
. . . . . . g.88206
aatttaaagttgcacagtaagtactgtttccttattttaatctttctttactcataatgt c.*1500
. . . . . . g.88266
atttaagaatttgctgttttatttaacgctgctactcttaatcttctctaaatttttccc c.*1560
. . . . . . g.88326
cctactttcttgcttctgtttcacattttttaaaagggcaagtacaggagcaactgctgc c.*1620
. . . . . . g.88386
tacccagaaaaatgtgtgtattataaataattaaagagtttttaattgctttctgtatga c.*1680
(downstream sequence)
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