(used for variant description)
(last modified January 8, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_198428.2 in the BBS9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009306.1, covering BBS9 transcript NM_198428.2.
(upstream sequence)
. . . g.5033
agtggcgtccgttgtaagtgctatgacaacagg c.-481
. . . . . . g.5093
gcgaagatggctcagagttaggctggagaggggaggtgtcccttccgctgcggccgtcgg c.-421
. . . . . . g.5153
gtttctgctacatcccattcaccgcctcctccatcctttcctcctcggtgtgagcagcag c.-361
. . . . . . g.5213
gacttgcatttgttctcgcctgcctagtgtcttccaagggatagatgccgtttcctctgc c.-301
. . . . . . g.5273
tggtctctgggggtgacggggggcgcaggggagcttcttgggggaatcactccaactctg c.-241
. . . . . . g.5333
tggagctggtggtgctgcctggtggggctctctctttgcccgggacgtggaacaactttc c.-181
. . . . . . g.5393
agctggaggacgagagggaatagtgaagctaaaggttgcttttctctgcaccgtccgttc c.-121
. . . . . . g.5453
ttgctccctctgctccatcactgggaccttgtcaggcgttcataaagcaaaatttgccga c.-61
. . . . . | 02 g.21713
acgagggttcgcagaaaggtggggcagagctcatctgacgtggcatcag | tgtgaaagaaa c.-1
. . . . . . g.21773
ATGTCTTTATTTAAAGCCCGTGATTGGTGGTCTACTATTCTGGGAGATAAAGAAGAATTT c.60
M S L F K A R D W W S T I L G D K E E F p.20
. . . . . | 03 . g.28169
GATCAAGGCTGTTTGTGTCTGGCTAATGTTGACAATAGTGGAAATGGACAAG | ATAAAATA c.120
D Q G C L C L A N V D N S G N G Q D | K I p.40
. . . . . . g.28229
ATTGTGGGTAGCTTTATGGGATACCTAAGGATCTTTAGCCCCCATCCTGCAAAAACAGGA c.180
I V G S F M G Y L R I F S P H P A K T G p.60
. . . . . . g.28289
GATGGAGCTCAAGCCGAAGATTTGCTTCTAGAAGTGGATCTACGAGATCCAGTACTTCAA c.240
D G A Q A E D L L L E V D L R D P V L Q p.80
. . | 04 . . . . g.31135
GTGGAAGTAGGAAAGTTTGTTTC | AGGTACCGAAATGCTACATTTGGCTGTGTTACATTCT c.300
V E V G K F V S | G T E M L H L A V L H S p.100
. . | 05 . . . g.52970
AGAAAACTTTGTGTCTACTCTGTCTCAG | GAACCTTGGGTAATGTGGAACATGGGAACCAA c.360
R K L C V Y S V S G | T L G N V E H G N Q p.120
. . . . . . g.53030
TGTCAGATGAAATTGATGTATGAACATAATCTTCAGAGAACAGCCTGCAATATGACCTAT c.420
C Q M K L M Y E H N L Q R T A C N M T Y p.140
. . | 06 . . . . g.132734
GGATCATTTGGTGGTGTAAAAG | GTCGAGATTTAATTTGCATCCAGTCTATGGATGGGATG c.480
G S F G G V K G | R D L I C I Q S M D G M p.160
. . . . . . g.132794
CTGATGGTATTTGAGCAGGAGAGCTATGCTTTTGGAAGATTTCTCCCTGGCTTTCTTCTG c.540
L M V F E Q E S Y A F G R F L P G F L L p.180
. . . . . . g.132854
CCTGGTCCTCTTGCCTACAGTTCCCGTACAGATTCCTTCCTTACTGTCTCTTCCTGCCAA c.600
P G P L A Y S S R T D S F L T V S S C Q p.200
. | 07. . . . . g.139793
CAAGTGGAAAGTTATAA | GTACCAGGTACTTGCTTTTGCAACAGATGCAGATAAAAGGCAG c.660
Q V E S Y K | Y Q V L A F A T D A D K R Q p.220
. . . . | 08 . . g.148490
GAGACTGAACAGCAAAAACTTGGTTCTGGAAAAAGACTAGTT | GTGGATTGGACTCTAAAT c.720
E T E Q Q K L G S G K R L V | V D W T L N p.240
. . . . . . g.148550
ATTGGAGAGCAAGCCCTTGACATATGTATTGTCTCTTTCAATCAGTCGGCATCCTCTGTT c.780
I G E Q A L D I C I V S F N Q S A S S V p.260
. . . . . . g.148610
TTTGTTCTTGGTGAGAGAAACTTTTTTTGCCTTAAGGATAATGGACAAATTCGATTCATG c.840
F V L G E R N F F C L K D N G Q I R F M p.280
. . . . | 09 . . g.149301
AAGAAGCTTGATTGGAGCCCAAGTTGTTTTCTGCCATATTGCTCAG | TTTCTGAAGGAACA c.900
K K L D W S P S C F L P Y C S V | S E G T p.300
. . . . . . g.149361
ATAAATACTTTGATTGGAAATCATAATAACATGCTGCATATTTATCAAGATGTGACACTG c.960
I N T L I G N H N N M L H I Y Q D V T L p.320
. . . . . | 10 . g.211905
AAGTGGGCCACCCAACTTCCCCACATTCCTGTAGCAGTAAGAGTGGGCTGTTTGCA | TGAT c.1020
K W A T Q L P H I P V A V R V G C L H | D p.340
. . . . . . g.211965
TTAAAGGGAGTGATAGTCACTCTGAGTGATGATGGTCACTTGCAGTGTTCATACCTGGGG c.1080
L K G V I V T L S D D G H L Q C S Y L G p.360
. . . . . . g.212025
ACAGATCCTTCTCTGTTCCAAGCTCCAAACGTTCAATCTCGAGAACTAAACTATGATGAA c.1140
T D P S L F Q A P N V Q S R E L N Y D E p.380
. . . . . | 11 g.216359
CTTGATGTAGAAATGAAAGAACTTCAGAAAATCATCAAAGATGTTAACAAATCACAAG | GT c.1200
L D V E M K E L Q K I I K D V N K S Q G | p.400
. . . . . . g.216419
GTTTGGCCCATGACTGAGAGAGAAGATGACTTGAACGTTTCTGTCGTGGTTTCTCCTAAC c.1260
V W P M T E R E D D L N V S V V V S P N p.420
. | 12 . . . . . g.220086
TTTGATTCAGTTTCT | CAAGCGACCGATGTTGAGGTGGGAACTGACCTTGTCCCTTCTGTC c.1320
F D S V S | Q A T D V E V G T D L V P S V p.440
| 13 . . . . . g.224579
ACGGTGAAG | GTCACACTGCAGAACAGAGTGATATTGCAAAAAGCCAAATTATCAGTCTAC c.1380
T V K | V T L Q N R V I L Q K A K L S V Y p.460
. . . . . | 14 . g.226687
GTGCAACCACCATTAGAATTGACTTGTGATCAGTTCACCTTTGAATTTATGA | CACCAGAT c.1440
V Q P P L E L T C D Q F T F E F M T | P D p.480
. . . . . . g.226747
TTGACTAGAACAGTAAGCTTTTCTGTTTATCTGAAAAGAAGTTATACACCATCAGAATTG c.1500
L T R T V S F S V Y L K R S Y T P S E L p.500
. . . | 15. . | 16 . g.233323
GAAGGAAATGCTGTTGTTTCTTATTCCAGACCAACAG | ATCGAAATCCTGATG | GCATTCCG c.1560
E G N A V V S Y S R P T D | R N P D G | I P p.520
. . . . . . g.233383
CGAGTTATCCAATGTAAATTTAGACTTCCCCTAAAGTTAATTTGCCTACCAGGTCAGCCT c.1620
R V I Q C K F R L P L K L I C L P G Q P p.540
. . . . . . g.233443
TCAAAAACTGCAAGCCACAAAATTACTATTGATACCAACAAATCTCCAGTCAGTCTTCTT c.1680
S K T A S H K I T I D T N K S P V S L L p.560
. | 17 . . . . . g.243274
AGTCTCTTCCCAG | GTTTTGCCAGTCAGTCAGATGATGATCAGGTGAATGTAATGGGTTTT c.1740
S L F P G | F A S Q S D D D Q V N V M G F p.580
. . . . | 18 . g.259137
CACTTCTTAGGAGGTGCTCGAATTACTGTTCTTGCTTCCAAAACTTCTC | AACGATATCGC c.1800
H F L G G A R I T V L A S K T S Q | R Y R p.600
. . . . . . g.259197
ATTCAGAGTGAACAATTTGAAGATCTTTGGCTCATAACCAATGAGCTTATTCTTCGCCTT c.1860
I Q S E Q F E D L W L I T N E L I L R L p.620
. . . . . . g.259257
CAAGAATATTTTGAAAAACAGGGAGTCAAAGATTTTGCATGTTCTTTTTCGGGATCTATA c.1920
Q E Y F E K Q G V K D F A C S F S G S I p.640
. . . . | 19 . . g.263470
CCCCTTCAAGAATATTTTGAGTTGATTGATCATCATTTTGAG | CTACGGATAAATGGTGAA c.1980
P L Q E Y F E L I D H H F E | L R I N G E p.660
. . . . . . g.263530
AAATTAGAAGAACTCTTATCTGAGAGAGCTGTACAATTTCGGGCCATTCAACGCCGGCTA c.2040
K L E E L L S E R A V Q F R A I Q R R L p.680
. . . . . . g.263590
CTAGCAAGATTCAAAGATAAAACTCCTGCCCCTCTTCAACACCTGGACACCTTGTTAGAT c.2100
L A R F K D K T P A P L Q H L D T L L D p.700
. | 20 . . . . . g.380968
GGAACCTACAAGCAG | GTAATTGCTCTAGCAGATGCAGTGGAGGAAAACCAAGGCAATCTG c.2160
G T Y K Q | V I A L A D A V E E N Q G N L p.720
. . . . . . g.381028
TTCCAGTCATTCACCAGGCTGAAGAGTGCCACCCATTTGGTGATTCTGCTGATCGCGCTG c.2220
F Q S F T R L K S A T H L V I L L I A L p.740
. . . . . . g.381088
TGGCAGAAGCTTAGTGCTGACCAGGTTGCTATTCTGGAAGCGGCATTTCTGCCGCTACAA c.2280
W Q K L S A D Q V A I L E A A F L P L Q p.760
. | 21 . . . . g.409456
GAAGACACTCAAGAATTG | GGCTGGGAAGAAACGGTGGATGCCGCCATTTCCCACCTGTTG c.2340
E D T Q E L | G W E E T V D A A I S H L L p.780
. . . . . . g.409516
AAGACTTGCCTGTCGAAGAGTTCTAAGGAGCAGGCTTTGAACCTCAACAGCCAGCTGAAC c.2400
K T C L S K S S K E Q A L N L N S Q L N p.800
. . . . . . g.409576
ATACCCAAAGACACAAGCCAACTGAAGAAACATATCACCTTGCTCTGCGATAGATTATCC c.2460
I P K D T S Q L K K H I T L L C D R L S p.820
. . . . . . g.409636
AAAGGTGGCCGTCTCTGCCTAAGTACCGATGCAGCAGCCCCACAGACCATGGTCATGCCA c.2520
K G G R L C L S T D A A A P Q T M V M P p.840
| 22 . . . . . . g.480384
G | GTGGTTGTACTACAATCCCAGAGTCAGACCTAGAAGAAAGATCAGTAGAACAAGACTCT c.2580
G | G C T T I P E S D L E E R S V E Q D S p.860
. . . . . | 23 . g.480663
ACAGAACTGTTTACCAACCACAGACATCTCACTGCAGAGACACCCAGGCCTG | AAGTTTCA c.2640
T E L F T N H R H L T A E T P R P E | V S p.880
. . g.480687
CCCCTCCAAGGAGTCTCGGAATAA c.2664
P L Q G V S E X p.887
. . . . . . g.480747
ttcaagtagagttgtttggttgagaggaacatccccatctcaaggccgaacctgtgtgaa c.*60
. . . . . . g.480807
cctcatgccaagcacagatatagggctggcgcaggtgcttcctaaagctcaccttcctgg c.*120
. . . . . . g.480867
agatgacatgcatagaaagaggggttgggactttttacttcactaggagaacttgtaaca c.*180
. . . . . . g.480927
ccatggggaagtcagctgaaacttgtcttgttttgccaggaaaggaagtagttgcctttg c.*240
. . . . . . g.480987
gtcatccatctgctaatagtcacagaatacagtgaaatgacatagttttgggttagattt c.*300
. . . . . . g.481047
tataatgcaaagattcagatccaaaataatttcataccccattttttcacagaattctta c.*360
. . . . . . g.481107
tatagtaaatgtatcaagtttaataaagcatctcattgtcaaataatatcttggatttta c.*420
. . . . . . g.481167
tttataattagagggatttatgagtgattgctctacattatttcttcaaaggaaaggaaa c.*480
. . . . . . g.481227
ggaattgaagactttgctactctctggtaagacttgaatgtgattattttataaataaaa c.*540
. . . . . . g.481287
gaaccactatgaaactttcatgtgatttgttctattaagctaaacgtggaagaagggaag c.*600
. . . . . . g.481347
ttttctagtattgtatgaaaatgtttaaatattttcaaggaagctagtacattaacatcc c.*660
. . . . . . g.481407
ccttttcattaccccattgggtggcaccttttaaaaatccaggttattaaaggattcaca c.*720
. . . . . . g.481467
ctttattacagttaaaatttaaggtttttatgtgtaagaagtgaaagaaactttgctaat c.*780
. . . . . . g.481527
ttcaagttcgaattacagttgtgagattgatttatttaaataaaaatatgcctttgccag c.*840
g.481529
tt c.*842
(downstream sequence)
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