(used for variant description)
(last modified April 23, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_024649.4 in the BBS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009093.1, covering BBS1 transcript NM_024649.4.
(upstream sequence)
. g.5012
acgcctgcgaag c.-1
. . . . | 02. . g.5378
ATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCGGAGCTGAGAG | CAATGAGGCCAAT c.60
M A A A S S S D S D A C G A E S | N E A N p.20
. . . . . . g.5438
TCGAAGTGGTTGGATGCGCACTACGACCCAATGGCCAATATCCACACCTTTTCTGCCTGC c.120
S K W L D A H Y D P M A N I H T F S A C p.40
| 03 . . . | 04 . . g.8779
CTAG | CGCTGGCAGATTTACATGGGGATGGGGAATACAAG | CTGGTGGTAGGGGACCTTGGC c.180
L A | L A D L H G D G E Y K | L V V G D L G p.60
. . . . . . g.8839
CCTGGTGGGCAGCAGCCCCGCCTGAAGGTGCTCAAAGGACCACTGGTGATGACCGAAAGC c.240
P G G Q Q P R L K V L K G P L V M T E S p.80
. . . . . . g.8899
CCGCTACCTGCTCTGCCAGCTGCTGCTGCCACCTTCCTCATGGAGCAACATGAGCCCCGG c.300
P L P A L P A A A A T F L M E Q H E P R p.100
. . . . . . g.8959
ACCCCAGCTCTGGCACTTGCTTCAGGCCCTTGTGTCTATGTGTATAAGAATCTCAGACCC c.360
T P A L A L A S G P C V Y V Y K N L R P p.120
. . . . . . g.9019
TACTTCAAGTTCAGCCTGCCCCAATTGCCTCCAAATCCTCTGGAACAAGACCTTTGGAAC c.420
Y F K F S L P Q L P P N P L E Q D L W N p.140
. | 05 . . . . | 06 g.10046
CAGGCCAAAGAG | GACCGAATCGACCCCTTAACCCTGAAGGAGATGCTGGAGAGCATCCG | G c.480
Q A K E | D R I D P L T L K E M L E S I R | p.160
. . . | 07 . . g.10235
GAGACGGCAGAGGAGCCTTTGTCCATCCAGTCACTCAG | GTTTCTGCAGCTGGAGCTAAGT c.540
E T A E E P L S I Q S L R | F L Q L E L S p.180
. . . . . | 08 . g.13978
GAAATGGAGGCATTTGTAAACCAACACAAGTCCAACTCCATCAAGCGGCAG | ACAGTCATC c.600
E M E A F V N Q H K S N S I K R Q | T V I p.200
. . . . . . g.14038
ACCACCATGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTG c.660
T T M T T L K K N L A D E D A V S C L V p.220
. . . . . . g.14098
CTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCC c.720
L G T E N K E L L V L D P E A F T I L A p.240
| 09 . . . . . . g.15679
AAG | ATGAGCCTTCCCAGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAG c.780
K | M S L P S V P V F L E V S G Q F D V E p.260
. . . . . | 10 . g.17818
TTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAG | AGACTCCAAG c.840
F R L A A A C R N G N I Y I L R R | D S K p.280
. . . . . . g.17878
CACCCCAAGTACTGCATCGAGCTGAGCGCCCAGCCTGTGGGACTTATCCGGGTACACAAG c.900
H P K Y C I E L S A Q P V G L I R V H K p.300
. . . . . | 11 . g.18085
GTCCTAGTGGTGGGCAGCACCCAAGACAGCCTGCATGGCTTCACCCACAAG | GGGAAGAAG c.960
V L V V G S T Q D S L H G F T H K | G K K p.320
. . . . . . g.18145
CTGTGGACAGTGCAGATGCCCGCAGCCATCCTGACCATGAACCTCCTGGAGCAGCATTCC c.1020
L W T V Q M P A A I L T M N L L E Q H S p.340
. . . . . . g.18205
CGGGGCCTGCAGGCCGTCATGGCTGGGCTGGCCAATGGAGAGGTCCGCATTTATCGTGAC c.1080
R G L Q A V M A G L A N G E V R I Y R D p.360
. . . | 12 . . . g.20505
AAGGCCCTGCTCAATGTCATCCACACCCCG | GATGCAGTGACCAGCCTTTGCTTTGGCCGG c.1140
K A L L N V I H T P | D A V T S L C F G R p.380
. . . . | 13 . . g.21021
TACGGGCGGGAGGACAACACCCTCATCATGACCACTCGAG | GTGGTGGCCTGATCATCAAG c.1200
Y G R E D N T L I M T T R G | G G L I I K p.400
. . . . . . g.21081
ATCCTGAAGCGTACAGCAGTGTTTGTAGAGGGAGGAAGTGAGGTGGGTCCCCCACCAGCC c.1260
I L K R T A V F V E G G S E V G P P P A p.420
. . . . . . g.21141
CAGGCCATGAAACTCAATGTGCCCCGAAAGACCCGGCTTTACGTGGATCAGACACTGCGA c.1320
Q A M K L N V P R K T R L Y V D Q T L R p.440
. | 14 . . . . g.24212
GAGCGGGAGGCTGGCACCG | CCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGC c.1380
E R E A G T A | M H R A F Q T D L Y L L R p.460
. . . . . . g.24272
CTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACG c.1440
L R A A R A Y L Q A L E S S L S P L S T p.480
. . . | 15 . . . g.25273
ACAGCCCGAGAGCCACTCAAGCTGCACGCCGTG | GTTCAGGGCCTTGGCCCCACCTTTAAG c.1500
T A R E P L K L H A V | V Q G L G P T F K p.500
. . . . . . g.25333
CTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGC c.1560
L T L H L Q N T S T T R P V L G L L V C p.520
. . . . | 16 . g.26020
TTCCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAG | GTACCCTTGCTG c.1620
F L Y N E A L Y S L P R A F F K | V P L L p.540
. . . . . . g.26080
GTGCCAGGGCTCAACTACCCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATC c.1680
V P G L N Y P L E T F V E S L S N K G I p.560
. | 17 . . . . . g.26348
TCAGACATCATCAAG | GTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAGTGCC c.1740
S D I I K | V L V L R E G Q S A P L L S A p.580
. . . . g.26390
CACGTCAACATGCCTGGGAGCGAGGGGCTGGCGGCCGCCTGA c.1782
H V N M P G S E G L A A A X p.593
. . . . . . g.26450
gacctgagctgctgtgaaagcccctgcacaatcagccagggagaactgggcgggtttagt c.*60
. . . . . . g.26510
ggccccaggcccactcctcatgcagcagtgtgctggggcgacagctcgtctcccctctct c.*120
. . . . . . g.26570
taagcacccgcttcctcaccacccccactgttgggcctatagtagcaggttagtgagtac c.*180
. . . . . . g.26630
ctagggcggctcaactcctcccacagcaccaacccagcatggtcccactgaagtcctact c.*240
. . . . . . g.26690
acgccctcccctccccagccttttccagaaaccatactgggctcagatcagagctccgaa c.*300
. . . . . . g.26750
gcggtcaaagtgagctgagcaggacaggcccagcctttctccactgccacgtccctcatg c.*360
. . . . . . g.26810
cacatcactcatctcctgctgcaggccaaggccaaaattgggctagtcctggccagggaa c.*420
. . . . . . g.26870
atcagaagctcttcttgggtgagattgagcctcctgttgctccctggagttccggaggct c.*480
. . . . . . g.26930
gggctgcagcccactcagcttgcgggcaaaatacgtgctctcctctctccttgtcagctg c.*540
. . . . . . g.26990
agcaaacccagggaatagccctcctctccccaggaaacttctctgaaatcttagacttag c.*600
. . . . . . g.27050
ccagtcttaggcctacgatgccacacaaaggttgttcagggagaagggggtgcaggaggc c.*660
. . . . . . g.27110
agagggtgccccgcagggagctggtggctccagccccactagagctcctaaagatcacac c.*720
. . . . . . g.27170
agcagctgctcctgacagggatgctcatgcccagaaagcaagcccaggagaggaaggcag c.*780
. . . . . . g.27230
agtgtgacagagcagagccagggccaggcgcaccaggagaggcgtttctggggctccaga c.*840
. . . . . . g.27290
gaagtgccacgggaggcagaagtccagaactgcccatatagatgcccttctacatcctgg c.*900
. . . . . . g.27350
agcccaaatcagtcatgtgggtgggaagttcccagggcagtggtcacatcgtgagaatta c.*960
. . . . . . g.27410
gcaggaaaggcggggcctttcttgtcatagctatttctgaggatgaaatgggagacatat c.*1020
. . . . . . g.27470
gcccagcacctgatgtaagtttatataatgtaatattatgtacctaccactaagaaatac c.*1080
. . . . . . g.27530
atgaaccgtgccatgaggacagtaagtgttcataaagcaacatgaagcaagaaacagtgc c.*1140
. . . . . . g.27590
agggtgcccagtgcacacactagagagaaattgtgaacattaaggacaaggagaattggt c.*1200
. . . . . . g.27650
gtctttctaaaacatacttatttaaaaacacatacccacttactaatgtggaattacaca c.*1260
. . . . . . g.27710
gtttgtaacaagaaaacagtctctcccattctctagtactgctcccctacccagcagtca c.*1320
. . . . . . g.27770
cttccagttcattcagctatttttaaaatgtgcttatatgactcttgcttgatatatcaa c.*1380
. . . . . . g.27830
tcttagacattacctgttgactccctgttgtcatacatgaggctttagctctcttttgtc c.*1440
. . . . . . g.27890
agcaaccctcccccatccctagttattaggttaaaaaatactcagattactatttctatt c.*1500
. . . . . . g.27950
actatgtgaaagttaactgcggagccaagagttggactataattaaattaccttccttgt c.*1560
. g.27966
actttctttttaatgg c.*1576
(downstream sequence)
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