(used for variant description)
(last modified October 27, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001728.3 in the BSG gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering BSG transcript NM_001728.3.
(upstream sequence)
g.6178
g c.-181
. . . . . . g.6238
tacatgcgagcgtgtgcgcgcgtgcgcaggcggggcgaccggcgtccccggcgctcgccc c.-121
. . . . . . g.6298
cgcccccgagatgacgccgtgcgtgcgcgcgcccggtccgcgcctccgccgctttttata c.-61
. . . . . . g.6358
gcggccgcgggcggcggcggcagcggttggaggttgtaggaccggcgaggaataggaatc c.-1
. . . . . . g.6418
ATGGCGGCTGCGCTGTTCGTGCTGCTGGGATTCGCGCTGCTGGGCACCCACGGAGCCTCC c.60
M A A A L F V L L G F A L L G T H G A S p.20
| 02. . . . . . g.11550
GGGGCTG | CCGGCTTCGTCCAGGCGCCGCTGTCCCAGCAGAGGTGGGTGGGGGGCAGTGTG c.120
G A A | G F V Q A P L S Q Q R W V G G S V p.40
. . . . . . g.11610
GAGCTGCACTGCGAGGCCGTGGGCAGCCCGGTGCCCGAGATCCAGTGGTGGTTTGAAGGG c.180
E L H C E A V G S P V P E I Q W W F E G p.60
. . . . . . g.11670
CAGGGTCCCAACGACACCTGCTCCCAGCTCTGGGACGGCGCCCGGCTGGACCGCGTCCAC c.240
Q G P N D T C S Q L W D G A R L D R V H p.80
. . . . . . g.11730
ATCCACGCCACCTACCACCAGCACGCGGCCAGCACCATCTCCATCGACACGCTCGTGGAG c.300
I H A T Y H Q H A A S T I S I D T L V E p.100
. . . . . . g.11790
GAGGACACGGGCACTTACGAGTGCCGGGCCAGCAACGACCCGGATCGCAACCACCTGACC c.360
E D T G T Y E C R A S N D P D R N H L T p.120
. . . . . | 03 . g.13228
CGGGCGCCCAGGGTCAAGTGGGTCCGCGCCCAGGCAGTCGTGCTAGTCCTGGAAC | CCGGC c.420
R A P R V K W V R A Q A V V L V L E P | G p.140
. . . . . . g.13288
ACAGTCTTCACTACCGTAGAAGACCTTGGCTCCAAGATACTCCTCACCTGCTCCTTGAAT c.480
T V F T T V E D L G S K I L L T C S L N p.160
. . . . . . g.13348
GACAGCGCCACAGAGGTCACAGGGCACCGCTGGCTGAAGGGGGGCGTGGTGCTGAAGGAG c.540
D S A T E V T G H R W L K G G V V L K E p.180
. . . | 04 . . . g.14130
GACGCGCTGCCCGGCCAGAAAACGGAGTTCAA | GGTGGACTCCGACGACCAGTGGGGAGAG c.600
D A L P G Q K T E F K | V D S D D Q W G E p.200
. . . . . | 05 . g.14374
TACTCCTGCGTCTTCCTCCCCGAGCCCATGGGCACGGCCAACATCCAGCTCCACG | GGCCT c.660
Y S C V F L P E P M G T A N I Q L H G | P p.220
. . . . . . g.14434
CCCAGAGTGAAGGCTGTGAAGTCGTCAGAACACATCAACGAGGGGGAGACGGCCATGCTG c.720
P R V K A V K S S E H I N E G E T A M L p.240
. . . . . . g.14494
GTCTGCAAGTCAGAGTCCGTGCCACCTGTCACTGACTGGGCCTGGTACAAGATCACTGAC c.780
V C K S E S V P P V T D W A W Y K I T D p.260
. | 06 . . . . . g.15086
TCTGAGGACAAG | GCCCTCATGAACGGCTCCGAGAGCAGGTTCTTCGTGAGTTCCTCGCAG c.840
S E D K | A L M N G S E S R F F V S S S Q p.280
. . . . . . g.15146
GGCCGGTCAGAGCTACACATTGAGAACCTGAACATGGAGGCCGACCCCGGCCAGTACCGG c.900
G R S E L H I E N L N M E A D P G Q Y R p.300
. . . . . . g.15206
TGCAACGGCACCAGCTCCAAGGGCTCCGACCAGGCCATCATCACGCTCCGCGTGCGCAGC c.960
C N G T S S K G S D Q A I I T L R V R S p.320
. . . . . . g.15266
CACCTGGCCGCCCTCTGGCCCTTCCTGGGCATCGTGGCTGAGGTGCTGGTGCTGGTCACC c.1020
H L A A L W P F L G I V A E V L V L V T p.340
. . . . | 07 . g.16040
ATCATCTTCATCTACGAGAAGCGCCGGAAGCCCGAGGACGTCCTGGATG | ATGACGACGCC c.1080
I I F I Y E K R R K P E D V L D D | D D A p.360
. | 08 . . . . . g.16283
GGCTCTGCACCCCT | GAAGAGCAGCGGGCAGCACCAGAATGACAAAGGCAAGAACGTCCGC c.1140
G S A P L | K S S G Q H Q N D K G K N V R p.380
. g.16301
CAGAGGAACTCTTCCTGA | c.1159
Q R N S S X p.385
| 09 . . . . . . g.16528
ggcag | gtggcccgaggacgctccctgctccacgtctgcgccgccgccggagtccactccc c.*60
. . . . . . g.16588
agtgcttgcaagattccaagttctcacctcttaaagaaaacccaccccgtagattcccat c.*120
. . . . . . g.16648
catacacttccttcttttttaaaaaagttgggttttctccattcaggattctgttcctta c.*180
. . . . . . g.16708
ggtttttttccttctgaagtgtttcacgagagcccgggagctgctgccctgcggccccgt c.*240
. . . . . . g.16768
ctgtggctttcagcctctgggtctgagtcatggccgggtgggcggcacagccttctccac c.*300
. . . . . . g.16828
tggccggagtcagtgccaggtccttgccctttgtggaaagtcacaggtcacacgaggggc c.*360
. . . . . . g.16888
cccgtgtcctgcctgtctgaagccaatgctgtctggttgcgccatttttgtgcttttatg c.*420
. . . . . . g.16948
tttaattttatgagggccacgggtctgtgttcgactcagcctcagggacgactctgacct c.*480
. . . . . . g.17008
cttggccacagaggactcacttgcccacaccgagggcgaccccgtcacagcctcaagtca c.*540
. . . . . . g.17068
ctcccaagccccctccttgtctgtgcatccgggggcagctctggagggggtttgctgggg c.*600
. . . . . . g.17128
aactggcgccatcgccgggactccagaaccgcagaagcctccccagctcacccctggagg c.*660
. . . . . . g.17188
acggccggctctctatagcaccagggctcacgtgggaacccccctcccacccaccgccac c.*720
. . g.17217
aataaagatcgcccccacctccaccctca c.*749
(downstream sequence)
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