(used for variant description)
(last modified September 13, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_001122955.3 in the BSCL2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008461.1, covering BSCL2 transcript NM_001122955.3.
(upstream sequence)
. . . g.6944
gctggtacctgaaggatgaaggatgctagaag c.-481
. . . . . . g.7004
gagctgctcagatcctggagcataccaactgcctggccagtgggggagcctagctgcctg c.-421
. . . . . . g.7064
catccctgcgcacacccccactgtcgctagttcactgcctgcccctcccccattgcaggc c.-361
. . . . . . g.7124
atcctgactctgggctagagacctccccaacagagctgaggccaaggccgactccccctc c.-301
. . . . . . g.7184
tcaaatggcgtggtctgggcctatgacggcccctgcagtggagtctgtactggctgcggg c.-241
. . . . . . g.7244
ggaccctgctcatttgaaaatctgacatcagctgggcagtcgcccccctcctcctttcct c.-181
. . . . . . g.7304
ccctctactctgacacagcacttagcacctgaatcttcgtttctctcccagggaccctcc c.-121
. . . . . . g.7364
attttccatatccaggaaaatgtgatgcgccacaggtatcagcgtctggatcgccacttc c.-61
. . . . . . g.7424
acgttttagccacaagtgactcagtggaagatccagagtcaacagaggctcgtcaggaag c.-1
. . . . . . g.7484
ATGTCTACAGAAAAGGTAGACCAAAAGGAGGAAGCTGGGGAAAAAGAGGTGTGCGGAGAC c.60
M S T E K V D Q K E E A G E K E V C G D p.20
. . | 02. . . . g.9035
CAGATCAAAGGACCGGACAAAGAGGAG | GAACCACCAGCTGCTGCATCCCATGGCCAGGGG c.120
Q I K G P D K E E | E P P A A A S H G Q G p.40
. . . . . . g.9095
TGGCGTCCAGGTGGCAGAGCAGCTAGGAACGCAAGGCCTGAACCTGGGGCCAGACACCCT c.180
W R P G G R A A R N A R P E P G A R H P p.60
. . . . . . g.9155
GCTCTCCCGGCCATGGTCAACGACCCTCCAGTACCTGCCTTACTGTGGGCCCAGGAGGTG c.240
A L P A M V N D P P V P A L L W A Q E V p.80
. . . . . . g.9215
GGCCAAGTCTTGGCAGGCCGTGCCCGCAGGCTGCTGCTGCAGTTTGGGGTGCTCTTCTGC c.300
G Q V L A G R A R R L L L Q F G V L F C p.100
. . . . . . g.9275
ACCATCCTCCTTTTGCTCTGGGTGTCTGTCTTCCTCTATGGCTCCTTCTACTATTCCTAT c.360
T I L L L L W V S V F L Y G S F Y Y S Y p.120
. . . . | 03 . . g.12086
ATGCCGACAGTCAGCCACCTCAGCCCTGTGCATTTCTACTACAG | GACCGACTGTGATTCC c.420
M P T V S H L S P V H F Y Y R | T D C D S p.140
. . . . . . g.12146
TCCACCACCTCACTCTGCTCCTTCCCTGTTGCCAATGTCTCGCTGACTAAGGGTGGACGT c.480
S T T S L C S F P V A N V S L T K G G R p.160
| 04 . . . . . . g.19962
GATCGG | GTGCTGATGTATGGACAGCCGTATCGTGTTACCTTAGAGCTTGAGCTGCCAGAG c.540
D R | V L M Y G Q P Y R V T L E L E L P E p.180
. . . . . . g.20022
TCCCCTGTGAATCAAGATTTGGGCATGTTCTTGGTCACCATTTCCTGCTACACCAGAGGT c.600
S P V N Q D L G M F L V T I S C Y T R G p.200
. . . | 05 . . . g.21852
GGCCGAATCATCTCCACTTCTTCGCGTTCG | GTGATGCTGCATTACCGCTCAGACCTGCTC c.660
G R I I S T S S R S | V M L H Y R S D L L p.220
. . . . . . g.21912
CAGATGCTGGACACACTGGTCTTCTCTAGCCTCCTGCTATTTGGCTTTGCAGAGCAGAAG c.720
Q M L D T L V F S S L L L F G F A E Q K p.240
. . . . | 06 . . g.22161
CAGCTGCTGGAGGTGGAACTCTACGCAGACTATAGAGAGAACTCG | TACGTGCCGACCACT c.780
Q L L E V E L Y A D Y R E N S | Y V P T T p.260
. . . . . . g.22221
GGAGCGATCATTGAGATCCACAGCAAGCGCATCCAGCTGTATGGAGCCTACCTCCGCATC c.840
G A I I E I H S K R I Q L Y G A Y L R I p.280
. . | 07 . . . . g.23235
CACGCGCACTTCACTGGGCTCAG | ATACCTGCTATACAACTTCCCGATGACCTGCGCCTTC c.900
H A H F T G L R | Y L L Y N F P M T C A F p.300
. . . . . . g.23295
ATAGGTGTTGCCAGCAACTTCACCTTCCTCAGCGTCATCGTGCTCTTCAGCTACATGCAG c.960
I G V A S N F T F L S V I V L F S Y M Q p.320
. . . . | 08 . . g.23493
TGGGTGTGGGGGGGCATCTGGCCCCGACACCGCTTCTCTTTGCAG | GTTAACATCCGAAAA c.1020
W V W G G I W P R H R F S L Q | V N I R K p.340
. . . . . | 09 . g.23760
AGAGACAATTCCCGGAAGGAAGTCCAACGAAGGATCTCTGCTCATCAGCCAG | GGCCTGAA c.1080
R D N S R K E V Q R R I S A H Q P G | P E p.360
. . . . . . g.23820
GGCCAGGAGGAGTCAACTCCGCAATCAGATGTTACAGAGGATGGTGAGAGCCCTGAAGAT c.1140
G Q E E S T P Q S D V T E D G E S P E D p.380
. | 10 . . . . . g.23974
CCCTCAGGGACAG | AGGGTCAGCTGTCCGAGGAGGAGAAACCAGATCAGCAGCCCCTGAGC c.1200
P S G T E | G Q L S E E E K P D Q Q P L S p.400
. . . | 11 . . . g.24124
GGAGAAGAGGAGCTAGAGCCTGAGGCCAGTGATG | GTTCAGGCTCCTGGGAAGATGCAGCT c.1260
G E E E L E P E A S D G | S G S W E D A A p.420
. . . . . . g.24184
TTGCTGACGGAGGCCAACCTGCCTGCTCCTGCTCCTGCTTCTGCTTCTGCCCCTGTCCTA c.1320
L L T E A N L P A P A P A S A S A P V L p.440
. . . . . . g.24244
GAGACTCTGGGCAGCTCTGAACCTGCTGGGGGTGCTCTCCGACAGCGCCCCACCTGCTCT c.1380
E T L G S S E P A G G A L R Q R P T C S p.460
g.24253
AGTTCCTGA c.1389
S S X p.462
. . . . . . g.24313
agaaaaggggcagactcctcacattccagcactttcccacctgactcctctcccctcgtt c.*60
. . . . g.24358
tttccttcaataaactattttgtgtcagcttcttccttgactctg c.*105
(downstream sequence)
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