(used for variant description)
(last modified November 11, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_024685.3 in the BBS10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016357.1, covering BBS10 transcript NM_024685.3.
(upstream sequence)
. . g.5024
attccgtttccggccgttcccacc c.-61
. . . . . . g.5084
cctgttttcggtcggcccgggtgttctgcaagctggtcaaaaaggggaagcggcccagat c.-1
. . . . . . g.5144
ATGTTAAGTTCTATGGCCGCTGCAGGGTCTGTGAAGGCGGCGTTGCAGGTGGCCGAGGTG c.60
M L S S M A A A G S V K A A L Q V A E V p.20
. . . . . . g.5204
CTGGAAGCCATCGTGAGCTGCTGCGTGGGGCCCGAGGGACGGCAAGTTTTGTGTACGAAG c.120
L E A I V S C C V G P E G R Q V L C T K p.40
. . . . . . g.5264
CCCACTGGCGAGGTGCTTCTCAGCCGGAATGGAGGCCGCCTCCTGGAGGCGCTACACTTA c.180
P T G E V L L S R N G G R L L E A L H L p.60
. | 02. . . . . g.5698
GAGCATCCCATAGCCAG | GATGATAGTGGACTGTGTTTCCAGTCATCTCAAAAAAACAGGA c.240
E H P I A R | M I V D C V S S H L K K T G p.80
. . . . . . g.5758
GATGGTGCAAAAACATTTATTATCTTTCTTTGCCATTTGCTTAGAGGACTTCATGCAATC c.300
D G A K T F I I F L C H L L R G L H A I p.100
. . . . . . g.5818
ACAGACAGAGAAAAGGATCCTTTGATGTGTGAAAACATTCAAACCCATGGAAGGCATTGG c.360
T D R E K D P L M C E N I Q T H G R H W p.120
. . . . . . g.5878
AAAAATTGTTCTCGGTGGAAATTTATTTCCCAGGCTCTCCTAACGTTTCAGACACAAATA c.420
K N C S R W K F I S Q A L L T F Q T Q I p.140
. . . . . . g.5938
TTAGACGGTATTATGGACCAGTACCTAAGTAGACACTTTTTGTCTATCTTTTCGTCTGCT c.480
L D G I M D Q Y L S R H F L S I F S S A p.160
. . . . . . g.5998
AAAGAGAGAACATTGTGTAGGAGCTCTTTAGAGTTGCTCTTAGAAGCATACTTTTGTGGA c.540
K E R T L C R S S L E L L L E A Y F C G p.180
. . . . . . g.6058
AGAGTGGGAAGAAATAATCATAAATTTATTTCACAGTTGATGTGTGACTACTTTTTCAAG c.600
R V G R N N H K F I S Q L M C D Y F F K p.200
. . . . . . g.6118
TGTATGACTTGTAAAAGTGGGATTGGTGTATTTGAGTTAGTGGATGACCATTTTGTAGAG c.660
C M T C K S G I G V F E L V D D H F V E p.220
. . . . . . g.6178
TTGAATGTTGGTGTCACTGGCCTTCCTGTTTCAGATTCCAGGATCATAGCTGGTCTTGTG c.720
L N V G V T G L P V S D S R I I A G L V p.240
. . . . . . g.6238
CTTCAGAAAGATTTTTCTGTGTACCGCCCAGCAGATGGTGACATGCGAATGGTGATAGTA c.780
L Q K D F S V Y R P A D G D M R M V I V p.260
. . . . . . g.6298
ACAGAAACCATTCAGCCTCTTTTTTCCACTTCTGGATCAGAGTTTATTCTAAATTCAGAA c.840
T E T I Q P L F S T S G S E F I L N S E p.280
. . . . . . g.6358
GCACAGTTTCAGACATCTCAATTTTGGATTATGGAAAAGACAAAAGCAATAATGAAACAT c.900
A Q F Q T S Q F W I M E K T K A I M K H p.300
. . . . . . g.6418
CTACATAGTCAGAATGTAAAATTGCTCATATCTAGTGTGAAACAACCAGATTTAGTTAGT c.960
L H S Q N V K L L I S S V K Q P D L V S p.320
. . . . . . g.6478
TATTATGCAGGGGTGAATGGCATATCAGTGGTTGAGTGTTTATCATCAGAAGAAGTTTCT c.1020
Y Y A G V N G I S V V E C L S S E E V S p.340
. . . . . . g.6538
CTTATCCGGAGGATCATTGGTCTTTCTCCATTTGTACCACCACAGGCCTTTTCGCAGTGT c.1080
L I R R I I G L S P F V P P Q A F S Q C p.360
. . . . . . g.6598
GAAATACCTAACACTGCTTTGGTGAAATTTTGTAAACCTCTTATCCTTAGATCCAAAAGA c.1140
E I P N T A L V K F C K P L I L R S K R p.380
. . . . . . g.6658
TATGTTCATCTAGGCTTGATAAGCACATGTGCATTTATACCACACTCTATAGTTCTTTGT c.1200
Y V H L G L I S T C A F I P H S I V L C p.400
. . . . . . g.6718
GGACCAGTGCATGGTCTCATTGAACAACATGAGGATGCTTTACATGGAGCACTTAAAATG c.1260
G P V H G L I E Q H E D A L H G A L K M p.420
. . . . . . g.6778
CTTCGGCAATTATTTAAAGACCTTGATCTAAATTACATGACACAAACCAATGACCAAAAT c.1320
L R Q L F K D L D L N Y M T Q T N D Q N p.440
. . . . . . g.6838
GGCACTTCAAGTCTTTTTATTTATAAGAACAGTGGAGAAAGTTATCAAGCACCAGATCCT c.1380
G T S S L F I Y K N S G E S Y Q A P D P p.460
. . . . . . g.6898
GGTAATGGCTCAATACAAAGGCCTTATCAGGACACAGTTGCAGAGAACAAAGATGCATTG c.1440
G N G S I Q R P Y Q D T V A E N K D A L p.480
. . . . . . g.6958
GAAAAAACTCAAACATATTTAAAAGTACATTCTAATTTGGTAATTCCAGATGTAGAATTA c.1500
E K T Q T Y L K V H S N L V I P D V E L p.500
. . . . . . g.7018
GAAACATATATTCCGTATTCAACCCCCACACTGACACCAACAGATACATTCCAAACAGTT c.1560
E T Y I P Y S T P T L T P T D T F Q T V p.520
. . . . . . g.7078
GAAACGCTGACATGTTTGTCTTTGGAAAGAAACAGGCTAACTGATTATTATGAACCATTA c.1620
E T L T C L S L E R N R L T D Y Y E P L p.540
. . . . . . g.7138
CTCAAGAACAATTCCACTGCTTATTCAACAAGGGGAAATAGAATAGAAATTTCTTACGAA c.1680
L K N N S T A Y S T R G N R I E I S Y E p.560
. . . . . . g.7198
AATTTACAGGTCACAAATATTACTAGAAAGGGAAGCATGTTACCAGTGAGCTGTAAGTTA c.1740
N L Q V T N I T R K G S M L P V S C K L p.580
. . . . . . g.7258
CCGAATATGGGTACTTCCCAGAGTTACCTTTCCTCATCTATGCCAGCTGGTTGTGTTTTG c.1800
P N M G T S Q S Y L S S S M P A G C V L p.600
. . . . . . g.7318
CCAGTAGGTGGTAATTTTGAGATCTTGTTACATTACTATCTTCTCAATTATGCCAAAAAA c.1860
P V G G N F E I L L H Y Y L L N Y A K K p.620
. . . . . . g.7378
TGCCATCAATCAGAAGAAACCATGGTTAGTATGATAATAGCTAATGCACTTTTAGGCATT c.1920
C H Q S E E T M V S M I I A N A L L G I p.640
. . . . . . g.7438
CCCAAAGTCCTTTATAAATCTAAAACAGGAAAGTACAGCTTTCCACATACATATATAAGA c.1980
P K V L Y K S K T G K Y S F P H T Y I R p.660
. . . . . . g.7498
GCTGTCCATGCACTGCAAACCAATCAACCCTTGGTAAGCAGTCAGACAGGTTTGGAATCA c.2040
A V H A L Q T N Q P L V S S Q T G L E S p.680
. . . . . . g.7558
GTAATGGGTAAATACCAGCTACTAACTTCAGTTCTTCAGTGTTTGACAAAAATATTAACC c.2100
V M G K Y Q L L T S V L Q C L T K I L T p.700
. . . . . . g.7618
ATTGACATGGTAATCACTGTTAAGAGACACCCTCAGAAAGTTCACAATCAAGATTCAGAA c.2160
I D M V I T V K R H P Q K V H N Q D S E p.720
. g.7630
GATGAACTATAA c.2172
D E L X p.723
. . . . . . g.7690
catcagaagtttttaattaaccaaacttttcatctaactcaagccaagtaaagcagtcat c.*60
. . . . . . g.7750
gtgaccactggttctaaagtcagttcagtctacttaggaaaatagcgtaactttaaaagt c.*120
. . . . . . g.7810
ctttagaagaagcacactaaggtcaccagaccagatacaaatattaaattactttatgga c.*180
. . . . . . g.7870
acaaatctagaggggaagccaagatttggctaagtgtgtctgttttttccctattttatg c.*240
. . . . . . g.7930
cctctgtgtctcagctctgtgttagcctatgtgtttaggggagggtttttctttatagct c.*300
. . . . . . g.7990
cctttttactctcctgtatctttttcactccagccctccttcatcgttacatgtttagtt c.*360
. . . . . . g.8050
catagaatcatttaatctctgatttgggtgggcttattctaattgtttttaatattgaat c.*420
. . . . . . g.8110
acattatttgcattaattttccctactcatactttgtaaagctgagtaaaaggctcaaat c.*480
. . . . . . g.8170
tatttttttcaaaaagcataaaattaaattagcagtgagtaaaaggctcaaatttttttt c.*540
. . . . . . g.8230
caaaaagcataaaattaatttttacttttatgtggtcattggtttactgccacttcattt c.*600
. . . . . . g.8290
ggaaaacttggatagattttcacctttgatatacctttgaatatatgttacctgaaatat c.*660
. . . . . . g.8350
aactgtgcattgttaactctttcatttctgtagtaaaaggttaatactagaaaggatatg c.*720
. . . . . . g.8410
caattaatactttgattttctcctgaccccaagagcttgtaaggatatgtcatgtattta c.*780
. . . . . . g.8470
ctggtttttcttgtatctggtgcatagccagagttccacagtaacaaataatttgacaat c.*840
. . . . . . g.8530
ttttatttctaatgtttatttctgttttatttttaatttttatttctaatttatttcatt c.*900
. . . . . . g.8590
tacaaatgttcatattttaaaaacttgtcaatgtaaataatatgatgcatcttatcatgg c.*960
. . . . . . g.8650
acaaggacagtgttttctacctttatcagttctctgtaatacccaaaacagtgctgtatt c.*1020
. . . . . . g.8710
tactccaagtattcagaagtgcttgttgaacaaaacagtgttatctttaattcattcctt c.*1080
. . . . . . g.8770
taaatacatgtttccagtttacttattcaacagattcttacttgggattgactgaagaaa c.*1140
. . . . . . g.8830
aaaaactttaattatagttgaataagtgttgactaatgtattttaaaaactataatatca c.*1200
. . . . . . g.8890
aaattttttatattaaatgtaattctgattttttaaacatttatgctatatgatgcatta c.*1260
. . . . . . g.8950
ttttgtttctgtgaatatggagagaataaattagctcttttgctgaattcatggatgaat c.*1320
g.8957
gaacttt c.*1327
(downstream sequence)
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