(used for variant description)
(last modified October 21, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_006080.2 in the SEMA3A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011489.1, covering SEMA3A transcript NM_006080.2.
(upstream sequence)
. g.5015
aagcaccactgcagc c.-301
. . . . . . g.5075
agaccttgttaattttttttttttttctttccacacaacagttgtgcctcattatccggt c.-241
. . . . . . g.5135
gcctggctcggaatttttttttttttttttctttttggagggtttgaagtttctgtgctt c.-181
. . . . . . g.5195
cagtgactgttacagaagaagaggtgttagtgttgccatgaggtcttgattgtctgcatt c.-121
. . . . . . g.5255
tatgaatgaaactgacctaaatcacctgttacctccagtttccagattgtttgaacttct c.-61
. . . . . . g.5315
ctggccgcacaatacaggaaggaagactaaagcagcaaagggacctacagcgtctgcagc c.-1
. . . . . . g.5375
ATGGGCTGGTTAACTAGGATTGTCTGTCTTTTCTGGGGAGTATTACTTACAGCAAGAGCA c.60
M G W L T R I V C L F W G V L L T A R A p.20
. . . . . | 02 . g.64958
AACTATCAGAATGGGAAGAACAATGTGCCAAGGCTGAAATTATCCTACAAAG | AAATGTTG c.120
N Y Q N G K N N V P R L K L S Y K E | M L p.40
. . . . . . g.65018
GAATCCAACAATGTGATCACTTTCAATGGCTTGGCCAACAGCTCCAGTTATCATACCTTC c.180
E S N N V I T F N G L A N S S S Y H T F p.60
. . . . . . g.65078
CTTTTGGATGAGGAACGGAGTAGGCTGTATGTTGGAGCAAAGGATCACATATTTTCATTC c.240
L L D E E R S R L Y V G A K D H I F S F p.80
. . . | 03 . . . g.70746
GACCTGGTTAATATCAAGGATTTTCAAAAG | ATTGTGTGGCCAGTATCTTACACCAGAAGA c.300
D L V N I K D F Q K | I V W P V S Y T R R p.100
. . . | 04 . . . g.89339
GATGAATGCAAGTGGGCTGGAAAAGACATCCTG | AAAGAATGTGCTAATTTCATCAAGGTA c.360
D E C K W A G K D I L | K E C A N F I K V p.120
. . . . . . g.89399
CTTAAGGCATATAATCAGACTCACTTGTACGCCTGTGGAACGGGGGCTTTTCATCCAATT c.420
L K A Y N Q T H L Y A C G T G A F H P I p.140
. . . | 05 . . . g.139370
TGCACCTACATTGAAATTGGACATCATCCTGAG | GACAATATTTTTAAGCTGGAGAACTCA c.480
C T Y I E I G H H P E | D N I F K L E N S p.160
. . . . . . g.139430
CATTTTGAAAACGGCCGTGGGAAGAGTCCATATGACCCTAAGCTGCTGACAGCATCCCTT c.540
H F E N G R G K S P Y D P K L L T A S L p.180
| 06. . . . . . g.153511
TTAATAG | ATGGAGAATTATACTCTGGAACTGCAGCTGATTTTATGGGGCGAGACTTTGCT c.600
L I D | G E L Y S G T A A D F M G R D F A p.200
. . . . . . g.153571
ATCTTCCGAACTCTTGGGCACCACCACCCAATCAGGACAGAGCAGCATGATTCCAGGTGG c.660
I F R T L G H H H P I R T E Q H D S R W p.220
| 07. . . . . . g.185603
CTCAATG | ATCCAAAGTTCATTAGTGCCCACCTCATCTCAGAGAGTGACAATCCTGAAGAT c.720
L N D | P K F I S A H L I S E S D N P E D p.240
. . . . . . g.185663
GACAAAGTATACTTTTTCTTCCGTGAAAATGCAATAGATGGAGAACACTCTGGAAAAGCT c.780
D K V Y F F F R E N A I D G E H S G K A p.260
. . . | 08 . . . g.188634
ACTCACGCTAGAATAGGTCAGATATGCAAG | AATGACTTTGGAGGGCACAGAAGTCTGGTG c.840
T H A R I G Q I C K | N D F G G H R S L V p.280
. . . . . . g.188694
AATAAATGGACAACATTCCTCAAAGCTCGTCTGATTTGCTCAGTGCCAGGTCCAAATGGC c.900
N K W T T F L K A R L I C S V P G P N G p.300
. . | 09 . . . . g.188845
ATTGACACTCATTTTGATGAACTGC | AGGATGTATTCCTAATGAACTTTAAAGATCCTAAA c.960
I D T H F D E L Q | D V F L M N F K D P K p.320
. . . | 10 . . . g.192429
AATCCAGTTGTATATGGAGTGTTTACGACTTCCAG | TAACATTTTCAAGGGATCAGCCGTG c.1020
N P V V Y G V F T T S S | N I F K G S A V p.340
. . . . . . g.192489
TGTATGTATAGCATGAGTGATGTGAGAAGGGTGTTCCTTGGTCCATATGCCCACAGGGAT c.1080
C M Y S M S D V R R V F L G P Y A H R D p.360
. . . . . . g.192549
GGACCCAACTATCAATGGGTGCCTTATCAAGGAAGAGTCCCCTATCCACGGCCAGGAACT c.1140
G P N Y Q W V P Y Q G R V P Y P R P G T p.380
| 11 . . . . . . g.194403
| TGTCCCAGCAAAACATTTGGTGGTTTTGACTCTACAAAGGACCTTCCTGATGATGTTATA c.1200
| C P S K T F G G F D S T K D L P D D V I p.400
. . . . . . g.194463
ACCTTTGCAAGAAGTCATCCAGCCATGTACAATCCAGTGTTTCCTATGAACAATCGCCCA c.1260
T F A R S H P A M Y N P V F P M N N R P p.420
. . . . . . g.194523
ATAGTGATCAAAACGGATGTAAATTATCAATTTACACAAATTGTCGTAGACCGAGTGGAT c.1320
I V I K T D V N Y Q F T Q I V V D R V D p.440
. . . . | 12 . . g.197875
GCAGAAGATGGACAGTATGATGTTATGTTTATCGGAACAG | ATGTTGGGACCGTTCTTAAA c.1380
A E D G Q Y D V M F I G T D | V G T V L K p.460
. . . . . . g.197935
GTAGTTTCAATTCCTAAGGAGACTTGGTATGATTTAGAAGAGGTTCTGCTGGAAGAAATG c.1440
V V S I P K E T W Y D L E E V L L E E M p.480
. | 13 . . . . | 14 . g.218429
ACAGTTTTTCGG | GAACCGACTGCTATTTCAGCAATGGAGCTTTCCACTAAGCAG | CAACAA c.1500
T V F R | E P T A I S A M E L S T K Q | Q Q p.500
. . . . . . g.218489
CTATATATTGGTTCAACGGCTGGGGTTGCCCAGCTCCCTTTACACCGGTGTGATATTTAC c.1560
L Y I G S T A G V A Q L P L H R C D I Y p.520
. . . . . . g.218549
GGGAAAGCGTGTGCTGAGTGTTGCCTCGCCCGAGACCCTTACTGTGCTTGGGATGGTTCT c.1620
G K A C A E C C L A R D P Y C A W D G S p.540
. . . | 15 . . . g.222733
GCATGTTCTCGCTATTTTCCCACTGCAAAGAG | ACGCACAAGACGACAAGATATAAGAAAT c.1680
A C S R Y F P T A K R | R T R R Q D I R N p.560
. . . | 16. . . g.236577
GGAGACCCACTGACTCACTGTTCAGACTTACACCATG | ATAATCACCATGGCCACAGCCCT c.1740
G D P L T H C S D L H H D | N H H G H S P p.580
. . . . . . g.236637
GAAGAGAGAATCATCTATGGTGTAGAGAATAGTAGCACATTTTTGGAATGCAGTCCGAAG c.1800
E E R I I Y G V E N S S T F L E C S P K p.600
. . . . . . g.236697
TCGCAGAGAGCGCTGGTCTATTGGCAATTCCAGAGGCGAAATGAAGAGCGAAAAGAAGAG c.1860
S Q R A L V Y W Q F Q R R N E E R K E E p.620
| 17 . . . . . . g.238135
| ATCAGAGTGGATGATCATATCATCAGGACAGATCAAGGCCTTCTGCTACGTAGTCTACAA c.1920
| I R V D D H I I R T D Q G L L L R S L Q p.640
. . . . . . g.238195
CAGAAGGATTCAGGCAATTACCTCTGCCATGCGGTGGAACATGGGTTCATACAAACTCTT c.1980
Q K D S G N Y L C H A V E H G F I Q T L p.660
. . . . . . g.238255
CTTAAGGTAACCCTGGAAGTCATTGACACAGAGCATTTGGAAGAACTTCTTCATAAAGAT c.2040
L K V T L E V I D T E H L E E L L H K D p.680
. . . . . . g.238315
GATGATGGAGATGGCTCTAAGACCAAAGAAATGTCCAATAGCATGACACCTAGCCAGAAG c.2100
D D G D G S K T K E M S N S M T P S Q K p.700
. . . . . . g.238375
GTCTGGTACAGAGACTTCATGCAGCTCATCAACCACCCCAATCTCAACACAATGGATGAG c.2160
V W Y R D F M Q L I N H P N L N T M D E p.720
. . . . . . g.238435
TTCTGTGAACAAGTTTGGAAAAGGGACCGAAAACAACGTCGGCAAAGGCCAGGACATACC c.2220
F C E Q V W K R D R K Q R R Q R P G H T p.740
. . . . . . g.238495
CCAGGGAACAGTAACAAATGGAAGCACTTACAAGAAAATAAGAAAGGTAGAAACAGGAGG c.2280
P G N S N K W K H L Q E N K K G R N R R p.760
. . . g.238531
ACCCACGAATTTGAGAGGGCACCCAGGAGTGTCTGA c.2316
T H E F E R A P R S V X p.771
. . . . . . g.238591
gctgcattacctctagaaacctcaaacaagtagaaacttgcctagacaataactggaaaa c.*60
. . . . . . g.238651
acaaatgcaatatacatgaacttttttcatggcattatgtggatgtttacaatggtggga c.*120
. . . . . . g.238711
aattcagctgagttccaccaattataaattaaatccatgagtaactttcctaataggctt c.*180
. . . . . . g.238771
tttttcctaataccaccacctaacagagaacacaggtgaatgcagatgttcactttagca c.*240
. . . . . . g.238831
gacttaatgtttcctatgagatttcactgtacaggtttgtctttcttctttgcctgagaa c.*300
. . . . . . g.238891
ataaaaatgtcatttgccatattgccatctaaaggagaaaaactgcatcagcaaagccat c.*360
. . . . . . g.238951
tgtattgaactaaaagtttaaaatgaactgcatggatttactaagctgatgaatattcca c.*420
. . . . . . g.239011
aaacgtggttggattcaaggatatattttgtctaccggccctcatgtttgtatgtacttg c.*480
. . . . . . g.239071
aggagtaaaatgagtaaaatgatactgaatgaaatgttctgtggaaatattaaaaaaaaa c.*540
. . . . . . g.239131
aaaaaacataagccatccatcatccagaagaaaaatggaatacactgatctactactgat c.*600
. . . . . . g.239191
gtcttctttcagctttgatctaaagatgtattttattaaaactataatttaaatgtacca c.*660
. . . . . . g.239251
tgaaaaatatgcagtaaaaattagttgttttctaagctagagtaggatttgtcttacaat c.*720
. . . . . . g.239311
tattgtgctatgtagtttttgttttaaaaattccaatggtgtgctgctttctttggacat c.*780
. . . . . . g.239371
tttattttcaattctataagagggatagatgacattgttctagaaacacatatacatcat c.*840
. . . . . . g.239431
taagagtgaatctctaaaaccaggatataaattatgctttatttctctgagaaaatcaaa c.*900
. . . . . . g.239491
caaatggaagctgttcacacctccccttctttaagcattatctaaattaatttttacttg c.*960
. . . . . . g.239551
cataatgttcttagaaaaaaaaacagaacatttaagcaggaaaaaaggaagaaacaagtt c.*1020
. . . . . . g.239611
gatttttaagtgcattttactataatgaatcaatgaagggaaaaggaactgcatatttca c.*1080
. . . . . . g.239671
tgaaaataataagcattgtcttaatatactgttaatagaaaatgtgtcttaattccgtgc c.*1140
. . . . . . g.239731
ttgaatccctgcatgatatttgagactaagatctctcttatgattctaccaagaattata c.*1200
. . . . . . g.239791
tctgtgtcacttaatttttttaaaagagagagatcaataactattcagagcaacatgtta c.*1260
. . . . . . g.239851
aaggcaaagtttccaatcatttacatctgtatcaggtgcctcttacctttccttatttaa c.*1320
. . . . . . g.239911
gacaattatttgtacaagaaacacatgactcttttcatatcaatgggagggacttttcta c.*1380
. . . . . . g.239971
caaagtattttccaggatgcaacccacatttaaacaatgtaaaattctttgtttcctgca c.*1440
. . . . . . g.240031
acaacttacaaaataaggtaaaagactaaaattcaagatttgcttccttcattgtcctaa c.*1500
. . . . . . g.240091
gacgattcgttgagaatcactgactttgagatatttaaaactttcagcattatactgtgg c.*1560
. . . . . . g.240151
tttcttttgcactgcactcacctattcaggactcctcccccaggttcctcatcatgcaca c.*1620
. . . . . . g.240211
aaaatgcaaagaaaacatcttattagtaattaatgaagcaacattgaaattctaactcta c.*1680
. . . . . . g.240271
gctgtctttggattctaattaactcagcatcaatttctcacctcagactacagtgaattt c.*1740
. . . . . . g.240331
ttatttcctatcagctgaaatatttcacagatggaagctcatgtttcagttttaatgact c.*1800
. . . . . . g.240391
gccttgaataaacaagttgttgccacttgtttcaaacaaaagcctaaaaataatctacat c.*1860
. . . . . . g.240451
tcaattttaggctccattgactaatatggtgttgcttttggaagtactgtatatcctcac c.*1920
. . . . . . g.240511
atggaagccaaattgttaaattatttgaaggacacaccactgtacagaaagtagtgtttc c.*1980
. . . . . . g.240571
aaatataaatcgaagaacaaagagtgctccaaaaaataggtcattcttttattttcataa c.*2040
. . . . . . g.240631
agtatctaaactgtactaacattcagtgttgtgtttcattctaaatttgcagctgaaata c.*2100
. . . . . . g.240691
aatttatttgcgatagcagaaatatcttattattcatcctcagaaataaaggatttgaag c.*2160
. . . . . . g.240751
ggatagagattatatgataaatttatagaagactttcagaatttgaatgcattttgttta c.*2220
. . . . . . g.240811
gtgttatgaaatgacaatagaaaaaagtctcgacttcaattaaaagttacacaaacaaac c.*2280
. . . . . . g.240871
aaatctacaggcatgtctttatataccatcaggtctaagttttcaaagaaaattgtagat c.*2340
. . . . . . g.240931
ataacttgcagataactcattacagtcataatctctgcccatgtgtattgagagggggca c.*2400
. . . . . . g.240991
gtttgcacgaaaaagaattattggcccatttaataattcagctttaaatagactttgtca c.*2460
. . . . . . g.241051
tatgcatgaatcatcagagatgaaactgtttgagagactcatgtgaccttacgaaaatta c.*2520
. . . . . . g.241111
caacagcagtcttaaagtatgaaaaagatgcatcacagcagagacattatggcccagttg c.*2580
. . . . . . g.241171
atatcaaatgtaaaatgtaaatgcatgtaaatgcacacttcattttatgtattatttagt c.*2640
. . . . . . g.241231
aatttgcagtggtatgtgtttaatatttttgctacctacacattaggcaaaaaaaagatg c.*2700
. . . . . . g.241291
taaataatttgggagaaaaagaggaagaacagtgtaaaataaaactttctataagtactc c.*2760
. . . . . . g.241351
catttcaatgtgttcaacatcatcctaaaaggcaagattttcccacgcaggtgacaaggt c.*2820
. . . . . . g.241411
ggtttatgtactatttaagggcggaaggtgcgtgcccgttcaataagcatgttttttgcc c.*2880
. . . . . . g.241471
aggtaggaaatatgttccatatctttacttatcattgcatttcagatgggaactagaaaa c.*2940
. . . . . . g.241531
actggagagaaaaatgtaatgaaactgctgctgtaaattattccttttagcatgtattca c.*3000
. . g.241559
cttgctaaatacacatttcttcaaaata c.*3028
(downstream sequence)
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