(used for variant description)
(last modified November 11, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_152384.2 in the BBS5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011567.1, covering BBS5 transcript NM_152384.2.
(upstream sequence)
. . . . . g.5058
agagacgcagctaggcctgcacggctgtggagagatcctgccacgggccttgttcacc c.-1
. . . . . | 02 g.7756
ATGTCGGTGCTGGATGCGCTTTGGGAGGATCGGGATGTCCGTTTCGACCTGTCCGCGCA | G c.60
M S V L D A L W E D R D V R F D L S A Q | p.20
. . . . . . g.7816
CAAATGAAAACAAGACCTGGAGAAGTCCTTATTGATTGTTTAGATTCCATTGAAGACACC c.120
Q M K T R P G E V L I D C L D S I E D T p.40
. . | 03 . . . . g.12611
AAAGGAAATAATGGAGATAGAG | GTAGACTCTTGGTAACAAATTTAAGAATTCTCTGGCAC c.180
K G N N G D R G | R L L V T N L R I L W H p.60
. . | 04 . . . g.13342
TCTTTGGCATTATCAAGAGTCAATGTTT | CTGTCGGTTACAATTGCATATTGAATATTACA c.240
S L A L S R V N V S | V G Y N C I L N I T p.80
. | 05 . . . . g.13533
ACAAGGACTGCTAACTCT | AAATTACGAGGCCAAACTGAAGCTCTCTATATACTAACAAAA c.300
T R T A N S | K L R G Q T E A L Y I L T K p.100
. . . . . . g.13593
TGTAACAGTACTCGTTTTGAATTTATATTTACAAATTTGGTTCCTGGAAGCCCTAGACTT c.360
C N S T R F E F I F T N L V P G S P R L p.120
. . | 06 . . . . g.18412
TTTACTTCTGTGATGGCAGTACACAG | AGCTTATGAAACTTCTAAAATGTATCGTGATTTT c.420
F T S V M A V H R | A Y E T S K M Y R D F p.140
. . . . . . g.18472
AAATTAAGAAGTGCACTAATTCAGAACAAGCAACTAAGACTGTTGCCACAAGAACATGTA c.480
K L R S A L I Q N K Q L R L L P Q E H V p.160
. . . . | 07 . . g.19263
TATGATAAAATAAATGGAGTTTGGAATTTATCCAGTGATCAG | GGCAATTTAGGAACCTTT c.540
Y D K I N G V W N L S S D Q | G N L G T F p.180
. . . . . . g.19323
TTTATTACCAATGTGAGAATTGTGTGGCATGCAAATATGAATGATAGTTTTAATGTCAGT c.600
F I T N V R I V W H A N M N D S F N V S p.200
. | 08 . . . . g.23173
ATACCATATCTGCAAATT | CGTTCAATAAAGATTAGAGATTCAAAATTTGGTTTAGCTCTT c.660
I P Y L Q I | R S I K I R D S K F G L A L p.220
. . | 09 . . . . g.25029
GTCATAGAAAGCTCTCAGCAG | AGTGGTGGATATGTTCTTGGCTTTAAAATAGATCCTGTG c.720
V I E S S Q Q | S G G Y V L G F K I D P V p.240
. . . . . . g.25089
GAAAAACTACAAGAATCAGTTAAGGAAATCAATTCACTTCACAAAGTCTATTCTGCCAGT c.780
E K L Q E S V K E I N S L H K V Y S A S p.260
. . . | 10 . . . g.28623
CCCATATTTGGAGTTGATTATGAGATGGAAGAAAAG | CCCCAGCCGCTCGAAGCTCTGACA c.840
P I F G V D Y E M E E K | P Q P L E A L T p.280
. . . . . . g.28683
GTCGAACAAATTCAAGATGATGTAGAAATAGACTCTGATGGTCACACGGATGCTTTTGTG c.900
V E Q I Q D D V E I D S D G H T D A F V p.300
| 11 . . | 12 . . . . g.30021
| GCTTATTTTGCTGATGGCAATAAG | CAACAAGATCGTGAACCTGTATTTTCAGAAGAACTG c.960
| A Y F A D G N K | Q Q D R E P V F S E E L p.320
. . . . . . g.30081
GGGCTTGCAATAGAGAAATTGAAGGATGGATTCACCCTACAGGGACTTTGGGAAGTAATG c.1020
G L A I E K L K D G F T L Q G L W E V M p.340
g.30087
AGTTGA c.1026
S X p.341
. . . . . . g.30147
ttgaccttgagttgagatggatttctattaaagatatctctagtttaaagatactagtca c.*60
. . . . . . g.30207
cctgccataagtcatggaatagtttttatatttacagcttttatatttaaaacttgtaag c.*120
. . . . . . g.30267
agtttttttaatgattgaggaaaaagtcatttagaaaacttcagttttcggccagcgcgt c.*180
. . . . . . g.30327
cgagggaggggccagcgacacatggcctagtaaccgtccggccgcggcgctggcttaagc c.*240
. . . . . . g.30387
catggctgagggtagctggattcctcaggcccgggcgctcctacagcagtgcctgcacgc c.*300
. . . . . . g.30447
ccggctgcaaattcgcccagccaatggggacgttgcggcccagtgggtggaggtccaaag c.*360
. . . . . . g.30507
aggactggtgatctacgtgtgctttttcaagggagctgataaagaacttcttcccaaaat c.*420
. . . . . . g.30567
ggccgaagctggactgtactgctgccatctctggctcactgcaacctccctgcctgattc c.*480
. . . . . . g.30627
tcctgcctcagcctgccgagtgcctgcgattacaggcgcgcgccgccacacctgactggt c.*540
. . . . . . g.30687
tttcgtatttttttggtggagacggggtttcgctgtgttggccgggctggtctccagctc c.*600
. . . . . . g.30747
ctaaccgcgagtgatccgccagcctcggcctcccgaggtgccgggattgcagacggagtc c.*660
. . . . . . g.30807
tggttcacttagtgctcaatggtgcccaggctggagtgcagtggcgtgatctccgctcgc c.*720
. . . . . . g.30867
tacaacctccacctcccagctgcctgccttggcctcccgaagtgccaagagtgcagcctc c.*780
. . . . . . g.30927
tgcccggccgccaccccgtctgggaagtgaggagcgtctctgcctggctgcccattgtct c.*840
. . . . . . g.30987
gggacgtgagcagcccctctgcctggctgcccagtctggaaagtgaggagcgtctctgcc c.*900
. . . . . . g.31047
cggccgccatcccatctaggaagtgaggagcgcctcttcccacccgccatcccatctagg c.*960
. . . . . . g.31107
aagtgaggagcttctctgcctggccgcccatcgtctgagatgtggggagcacctctgccc c.*1020
. . . . . . g.31167
ggccgcgaccccatttgggaggtgaggagcaactctgcccagccgccccgtctgagaagt c.*1080
. . . . . . g.31227
gaggagaccctccgcctggcaaccgccccgtctgataagtaaggagcccctctgcccagc c.*1140
. . . . . . g.31287
agccgccccgtctgagaagtgaggagcccctctgcccagcagccaccctgtctgggaagt c.*1200
. . . . . . g.31347
gaggagcgtctccgcccggcagccacccagtccgggagggaggtgggggggtcagtcccc c.*1260
. . . . . . g.31407
cgtccggccagccgccccgtccgggaggtgaggggcgcctctgcccagctgcccctactg c.*1320
. . . . . . g.31467
ggaagtgaggagcccctctgccccgccagccaccccgtccgggagggaggtgggggggtc c.*1380
. . . . . . g.31527
agccccccgcccggccagccgccccgtccgggagggaggtgggggatcagccccccgccc c.*1440
. . . . . . g.31587
ggctagccgccccgtccgggaggcgaggggcgcctctgcccggctgcccctactgggaag c.*1500
. . . . . . g.31647
tgaggagcccctctgcccggccagccgccccgtccaggagggaggtgggggggtcagccc c.*1560
. . . . . . g.31707
cccgcccggccagccgcccggtccgggagggaggtgggggggtcagccccccgcccggcc c.*1620
. . . . . . g.31767
agccgccccgtccgggaggttaggggcgcctctgcccggccgcccctactgggaagtgag c.*1680
. . . . . . g.31827
gagcccctctgcccggccaccaccccgtctgggaggtgtacccaacagctcattgagagc c.*1740
. . . . . . g.31887
gggcgatgatgacagtggcggctttgtggagtggaggtggggggaaggtggggaaaagat c.*1800
. . . . . . g.31947
tgagaaatcggatggttgccgtgtctgtgtagaaagaagtagacatgggagacttttcat c.*1860
. . . . . . g.32007
tttgttctgtactaagaaaaattcttaccctaaaacttaaagtataataaaaaaaaaaaa c.*1920
. . . . . . g.32067
acttcagttttctaaaaattatatttaaaattgtaatcaaaatgtacctagtttataaat c.*1980
. . . . . . g.32127
gtttattttgtacttaatacctgtaaagtcttagttttcagacattaagtgactgtatca c.*2040
. . . g.32160
tgttcggtttaataaagaatttatgcagcacca c.*2073
(downstream sequence)
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