(used for variant description)
(last modified February 8, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_030964.3 in the SPRY4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_034148.1, covering SPRY4 transcript NM_030964.3.
(upstream sequence)
g.5001
a c.-241
. . . . . . g.5061
ttcataaaaaagccattttcccaggcagtggttgcaacatcgccgcggaggtagcgagct c.-181
. . . . . . g.5121
gagctgacagcgcggagctggcgctgtggagcgcagggagccttgccggttcctccgacc c.-121
. . . . . . g.5181
ggcgtctgcgagtacagcggcggctaacctgccccggcttcaggatttacacagacgtgg c.-61
. . . . | 02 . . g.10290
ggcgatgcttgtgaccctgcagctcctcaaa | ccagcctgtattgagcggtttgcagcctg c.-1
. . | 03 . . . . g.14938
ATGCTCAGCCCCCTCCCCACAG | GGCCCCTAGAAGCCTGTTTCTCCGTACAGTCCAGGACC c.60
M L S P L P T G | P L E A C F S V Q S R T p.20
. . . . . . g.14998
TCCAGCCCCATGGAGCCCCCGATCCCACAGAGCGCCCCCTTGACTCCCAACTCAGTCATG c.120
S S P M E P P I P Q S A P L T P N S V M p.40
. . . . . . g.15058
GTCCAGCCCCTTCTTGACAGCCGGATGTCCCACAGCCGGCTCCAGCACCCACTCACCATC c.180
V Q P L L D S R M S H S R L Q H P L T I p.60
. . . . . . g.15118
CTACCCATTGACCAGGTGAAGACCAGCCATGTGGAGAATGACTACATAGACAACCCTAGC c.240
L P I D Q V K T S H V E N D Y I D N P S p.80
. . . . . . g.15178
CTGGCCCTGACCACCGGCCCAAAGCGGACCCGGGGCGGGGCCCCAGAGCTGGCCCCGACG c.300
L A L T T G P K R T R G G A P E L A P T p.100
. . . . . . g.15238
CCCGCCCGCTGTGACCAGGATGTCACCCACCATTGGATCTCCTTCAGCGGGCGCCCCAGC c.360
P A R C D Q D V T H H W I S F S G R P S p.120
. . . . . . g.15298
TCTGTGAGCAGCAGCAGCAGCACATCCTCTGACCAACGGCTCTTAGACCACATGGCACCA c.420
S V S S S S S T S S D Q R L L D H M A P p.140
. . . . . . g.15358
CCACCCGTGGCTGACCAGGCCTCACCAAGGGCTGTGCGCATCCAGCCCAAGGTGGTCCAC c.480
P P V A D Q A S P R A V R I Q P K V V H p.160
. . . . . . g.15418
TGCCAGCCGCTGGACCTCAAGGGCCCGGCGGTCCCACCCGAGCTGGACAAGCACTTCTTG c.540
C Q P L D L K G P A V P P E L D K H F L p.180
. . . . . . g.15478
CTGTGCGAGGCCTGTGGGAAGTGTAAATGCAAGGAGTGTGCATCCCCCCGGACGTTGCCT c.600
L C E A C G K C K C K E C A S P R T L P p.200
. . . . . . g.15538
TCCTGCTGGGTCTGCAACCAGGAGTGCCTGTGCTCAGCCCAGACTCTGGTCAACTATGGC c.660
S C W V C N Q E C L C S A Q T L V N Y G p.220
. . . . . . g.15598
ACGTGCATGTGTTTGGTGCAGGGCATCTTCTACCACTGCACGAATGAGGACGATGAGGGC c.720
T C M C L V Q G I F Y H C T N E D D E G p.240
. . . . . . g.15658
TCCTGCGCTGACCACCCCTGCTCCTGCTCCCGCTCCAACTGCTGCGCCCGCTGGTCCTTC c.780
S C A D H P C S C S R S N C C A R W S F p.260
. . . . . . g.15718
ATGGGTGCTCTCTCCGTGGTGCTGCCCTGCCTGCTCTGCTACCTGCCTGCCACCGGCTGC c.840
M G A L S V V L P C L L C Y L P A T G C p.280
. . . . . . g.15778
GTGAAGCTGGCCCAGCGTGGCTACGACCGTCTGCGCCGCCCTGGTTGCCGCTGCAAGCAC c.900
V K L A Q R G Y D R L R R P G C R C K H p.300
. . . . . . g.15838
ACGAACAGCGTCATCTGCAAAGCAGCCAGCGGGGATGCCAAGACCAGCAGGCCCGACAAG c.960
T N S V I C K A A S G D A K T S R P D K p.320
g.15847
CCTTTCTGA c.969
P F X p.322
. . . . . . g.15907
cagtttgtgtcgaagccccagtgctctgcctggaaacctggttctcttctgacatctaag c.*60
. . . . . . g.15967
aagactgcagcaaggtcagaggttttagcctcctgaggctgaccttgctagtctgcccac c.*120
. . . . . . g.16027
tccctacccccagcttcggaaaatacagagaccaccaccacgtaccctgtattccccaag c.*180
. . . . . . g.16087
gtgatgaagaagcactttggggctttttttcagggtcctgaaactttgtgtcaaacagac c.*240
. . . . . . g.16147
aatgcaggggcagggtgtggtttggggggaaatttttctttttcagaagacagaacacag c.*300
. . . . . . g.16207
atgtggacacatatccggaaactgcagctgcttgaatgccttcccagcccctccttctcc c.*360
. . . . . . g.16267
ctccctccctccgcccccccccccttcctcttttccattgtctttggctctcacaggagc c.*420
. . . . . . g.16327
tagctgcctgggaggaattgttaactgagtaccagggtacctttaaagaagacccttgga c.*480
. . . . . . g.16387
gtcttctataccttcttctccttccccatctcactccaccccactttgtccctgatgtct c.*540
. . . . . . g.16447
tggggaaggtgtagaacaccctagcagttcctattgtatatacttgggagccactgagaa c.*600
. . . . . . g.16507
cagaggacggccagtgagtccaagcctcgttcctccttctgcctccccggagccacagga c.*660
. . . . . . g.16567
tggatttaggagccactgctcagtgcacttctcccttccaactgcatcaactaactctcg c.*720
. . . . . . g.16627
ggggtgttctgctcaccacaccgtccttcggttcttactgagtcacagactcgcctgccc c.*780
. . . . . . g.16687
actacgtgtcctgggttctctctactcagatcccttccagaaactttatatgggtagagg c.*840
. . . . . . g.16747
aagccagggcggcaaatgcgagaccaaatatcattttgccaatgagtctgaggctgtggt c.*900
. . . . . . g.16807
ctctggatccagtcattatgtttttatagaataattaaaccggatgctaacggtgtttta c.*960
. . . . . . g.16867
aaaaataataataaaacaacttgtttccttttggccacccccaggaagggctgatttcaa c.*1020
. . . . . . g.16927
aatctgggggcgagcaacctcaaggaacacaatttccctccctatcaacaagaggatttt c.*1080
. . . . . . g.16987
aacagcaaagaagagaggcagcacctcccattggcagaatgaccgctgagccaggctggg c.*1140
. . . . . . g.17047
tttgggtttcttctcttctgattctgctgctcactgtcatagccttttgtgtatagtgat c.*1200
. . . . . . g.17107
gtgtctgtatctttaatgtaaatagagagatgatgaaaaaagagtctattttagtgttag c.*1260
. . . . . . g.17167
gaagccccagcaggggagtcggaagagcttggaagagctggggagagggtaggggaaagg c.*1320
. . . . . . g.17227
tttttccaggggccactgggtttgagccctgcttctgtgcacagccacaccaccctctcc c.*1380
. . . . . . g.17287
cgacagccctcaaagacgtagcaactctttctctcaaggtgctaaaggactcagaaggtg c.*1440
. . . . . . g.17347
cagcacgtccagtgggtaggtacttgttgcatgcaaaagctgtagtgtatctggtccttc c.*1500
. . . . . . g.17407
ctccccagcttttgtgtggggttcttgctttgtgtggtattttgttttcccctctaatga c.*1560
. . . . . . g.17467
gagggcatggcctgagtcagaagagctaccccaggtgaaactggaagtgcatgaggcaga c.*1620
. . . . . . g.17527
gcgtccgtagcatttccagtttgttctgtataggaacagaggtgcctccgggaaggaggc c.*1680
. . . . . . g.17587
agcgaggtaggtagctatgataggcacctaatgcttctcaaggacttattttttccttct c.*1740
. . . . . . g.17647
tgaagactagtagtaacatcttatgatttagagtaagttgattgtaaccataggtattta c.*1800
. . . . . . g.17707
ttgattggaggaagggagggtcatattattttcggctttatttatgtaacatttgctagc c.*1860
. . . . . . g.17767
ttgtaaaaggcgaatgtgaaatattgcatctgcattttccaaggctgattcgtgtagcta c.*1920
. . . . . . g.17827
cccttgccacagttgtgacggatgtatggatgttcttgaacatttcagaaggagtggtag c.*1980
. . . . . . g.17887
aaaaaaacacacattcagccaaccacttatatgaattgaatgtatcagaagtgtactgaa c.*2040
. . . . . . g.17947
gggactggagatggttttcctcagatgagggggccccaaaattgatagtgcacatctgca c.*2100
. . . . . . g.18007
cgctttctgcgaggcctcagaacttcccagggcccctccctcaaattgtctccatgggaa c.*2160
. . . . . . g.18067
acttgacccagtggcaagttgcactttggtgatcttggtggtctacacacccgttctgtg c.*2220
. . . . . . g.18127
gagagtcgatttacataagctgtgtatacacacacacacacacacacacacacccctacc c.*2280
. . . . . . g.18187
ccacactgactgtctaccgacaaagaccctatttcctggcaaacggcctcctgaaccctg c.*2340
. . . . . . g.18247
actttttgtgtacatacttgtaaacacggatttttctgggttttggtttgctttttcctt c.*2400
. . . . . . g.18307
ttttccccctgcccctgttctagcttgttcttcttggtttgctttcaacctgcttgatgg c.*2460
. . . . . . g.18367
atgtctgcagagtgctctctaagagtccacctcagtgcctcgtgtgctcagtggtcatgg c.*2520
. . . . . . g.18427
gaaaggagcgaaggaaccatccttggttctcccagcttggttgtgtagcaatccctcagc c.*2580
. . . . . . g.18487
attgtttttctcagcttcttggcaaaaattaaaacaacaacaacaacaacaacaacaaca c.*2640
. . . . . . g.18547
acaaacagaaggataaactggcttgcctgtggaccctccccggctctggggccagtcgag c.*2700
. . . . . . g.18607
agccactgagggacccagcactcagagacacaacacacatgtgtagctgcttctggctga c.*2760
. . . . . . g.18667
gtgtgtttcctgtcaccaatggcctgtttggctggacgatgcctcggcttgacctttttt c.*2820
. . . . . . g.18727
gaaaagtgctggttagttcccgcccctggtaaacctggggtaggtgggggttctgtctta c.*2880
. . . . . . g.18787
actcgaggggcacctgggatccaggacgcttctagggggctctggctgcccgtgttaatg c.*2940
. . . . . . g.18847
aaggacagcgcttccgcgagcaccctgggaactgggtcttgggtagcaaagccctcccag c.*3000
. . . . . . g.18907
agaaaagattgggcacaactaaggctttcctgagcaggaagggggtgaagaccaatccct c.*3060
. . . . . . g.18967
tcctttggtcctttggtacgcaccccctcagagctgagatggaagacatggctagttctt c.*3120
. . . . . . g.19027
ttcagccttgtggagcctgtcagtcgccatcatacctcgagtgaggcccagctagataat c.*3180
. . . . . . g.19087
gacttgtccaagatggcacacgtggaaagttgatctgcaccagaacccggatgactgtca c.*3240
. . . . . . g.19147
ccttgaagcatcctgttctccttctgtgctgtcccaggaagtgtctggcgggcgtgggca c.*3300
. . . . . . g.19207
gcacagctctacactgtacgattcactagggcatcctgcgagcctcactagccttctggt c.*3360
. . . . . . g.19267
tcatgcctttgacaagcatttttgtgccccctctgcttactgtgacagtcgatgatgaat c.*3420
. . . . . . g.19327
cttgcgttgccattttctgctgtgggtaactgcgtgcagtgtcttgccttgctttctctt c.*3480
. . . . . . g.19387
cttactgtcccacagcttggtttcatgttacaaacagaaaagctcgaggctcccaccccg c.*3540
. . . . . . g.19447
ccacatcccaacttcatttccccctcactgtagcccatttccaccccaccacaaagttgc c.*3600
. . . . . . g.19507
cacaggttttctttgtatagaatatttattttgaagctctattttaatagtatttatttt c.*3660
. . . . . . g.19567
agaaagtctactattgtaagagttcttctgtttgtgaagaaaaaaacaagttaaaaactg c.*3720
. . . . . . g.19627
aatgtactgatttagaaaatatatataaatatatattgttaaatatacacgggactgccg c.*3780
g.19629
tt c.*3782
(downstream sequence)
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