(used for variant description)
(last modified January 31, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001178007.1 in the BBS12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021203.1, covering BBS12 transcript NM_001178007.1.
(upstream sequence)
. . g.5021
gtctcttagcaactaagcccc c.-361
. . . . . . g.5081
cggctcctccagaagcccctcttcgcacatgcgcaaactgcggacggggaactgggctcc c.-301
. . . . . . g.5141
ctagccctggcgtttttggtgttgctgtcccagccagaatcgcgtctggccggtgggaag c.-241
. . . . . | 02 . g.6220
ccgggaactccagccccctgtaggagaggagaaaggagcgag | gcaggagaggaaaacaag c.-181
. . . . . . g.6280
tgcaaagtgcattcttgaagcactctgtcaaatcacttttcatgcttcattgagtagaaa c.-121
. . . . . . g.6340
catggcacattttccaaagccatcagcctgtcttgttcatattatatcccagacagacac c.-61
. . . . . | 03 g.14191
gcaagtattgtaatcattgataaaaatctcattaggcttctggaaaatag | atcatgatac c.-1
. . . . . . g.14251
ATGGTGATGGCTTGCAGAGTCGTAAACAAAAGAAGACACATGGGACTTCAACAACTTTCA c.60
M V M A C R V V N K R R H M G L Q Q L S p.20
. . . . . . g.14311
TCATTCGCGGAAACAGGAAGAACTTTCCTAGGCCCACTAAAATCATCCAAATTTATTATA c.120
S F A E T G R T F L G P L K S S K F I I p.40
. . . . . . g.14371
GATGAAGAATGTCATGAAAGTGTATTAATCAGTTCAACAGTAAGGCTTCTTGAAAGTTTG c.180
D E E C H E S V L I S S T V R L L E S L p.60
. . . . . . g.14431
GATTTAACCAGTGCAGTGGGACAACTTCTCAATGAAGCAGTTCAAGCACAAAACAACACA c.240
D L T S A V G Q L L N E A V Q A Q N N T p.80
. . . . . . g.14491
TATAGAACTGGAATCAGTACTCTTTTGTTTCTTGTTGGTGCTTGGAGCAGTGCAGTTGAA c.300
Y R T G I S T L L F L V G A W S S A V E p.100
. . . . . . g.14551
GAATGTCTTCATCTTGGTGTCCCCATTTCCATAATAGTATCAGTAATGTCAGAAGGCTTA c.360
E C L H L G V P I S I I V S V M S E G L p.120
. . . . . . g.14611
AACTTTTGTAGTGAAGAGGTAGTTTCTCTTCATGTACCTGTTCACAATATATTTGACTGT c.420
N F C S E E V V S L H V P V H N I F D C p.140
. . . . . . g.14671
ATGGACAGCACAAAAACATTTTCTCAACTTGAAACATTTAGTGTAAGTTTGTGTCCTTTT c.480
M D S T K T F S Q L E T F S V S L C P F p.160
. . . . . . g.14731
CTACAGGTCCCTTCAGATACTGATTTGATAGAGGAATTGCATGGTCTCAAAGATGTTGCC c.540
L Q V P S D T D L I E E L H G L K D V A p.180
. . . . . . g.14791
TCTCAAACACTGACCATTTCCAACCTTTCTGGGAGACCTCTTAAATCATATGAATTATTT c.600
S Q T L T I S N L S G R P L K S Y E L F p.200
. . . . . . g.14851
AAACCTCAGACAAAGGTTGAAGCAGATAACAACACATCACGAACTCTGAAAAACAGCCTG c.660
K P Q T K V E A D N N T S R T L K N S L p.220
. . . . . . g.14911
CTTGCAGATACCTGCTGCAGACAGTCAATACTAATCCACAGTAGGCATTTTAATAGGACA c.720
L A D T C C R Q S I L I H S R H F N R T p.240
. . . . . . g.14971
GATAATACTGAAGGGGTAAGCAAACCAGATGGATTTCAAGAACATGTTACAGCTACTCAC c.780
D N T E G V S K P D G F Q E H V T A T H p.260
. . . . . . g.15031
AAAACTTACAGATGTAATGATTTGGTAGAGTTGGCAGTAGGCTTGAGTCATGGAGATCAC c.840
K T Y R C N D L V E L A V G L S H G D H p.280
. . . . . . g.15091
AGCAGCATGAAGTTAGTAGAAGAAGCAGTACAGCTGCAATATCAGAATGCTTGTGTGCAA c.900
S S M K L V E E A V Q L Q Y Q N A C V Q p.300
. . . . . . g.15151
CAAGGCAACTGTACAAAACCATTTATGTTTGACATTTCAAGAATTTTCACTTGCTGTCTA c.960
Q G N C T K P F M F D I S R I F T C C L p.320
. . . . . . g.15211
CCAGGCTTACCTGAAACTTCTTCTTGTGTTTGTCCAGGATATATCACTGTTGTGTCAGTA c.1020
P G L P E T S S C V C P G Y I T V V S V p.340
. . . . . . g.15271
TCTAATAATCCTGTGATCAAGGAATTGCAGAATCAGCCTGTGCGAATAGTTCTCATTGAG c.1080
S N N P V I K E L Q N Q P V R I V L I E p.360
. . . . . . g.15331
GGTGACCTCACAGAGAATTACCGCCACCTGGGATTTAATAAGTCTGCAAATATTAAAACA c.1140
G D L T E N Y R H L G F N K S A N I K T p.380
. . . . . . g.15391
GTATTAGATAGCATGCGGCTTCAAGAAGACAGCTCAGAAGAACTGTGGGCAAATCACGTG c.1200
V L D S M R L Q E D S S E E L W A N H V p.400
. . . . . . g.15451
TTACAGGTGTTAATCCAGTTCAAGGTGAACCTTGTCCTGGTACAAGGAAATGTGTCCGAA c.1260
L Q V L I Q F K V N L V L V Q G N V S E p.420
. . . . . . g.15511
CGCTTAATTGAAAAATGTATAAACAGTAAGCGGTTGGTAATCGGCTCAGTGAATGGCAGT c.1320
R L I E K C I N S K R L V I G S V N G S p.440
. . . . . . g.15571
GTGATGCAGGCTTTTGCAGAGGCTGCAGGAGCAGTACAGGTGGCCTACATTACACAAGTG c.1380
V M Q A F A E A A G A V Q V A Y I T Q V p.460
. . . . . . g.15631
AATGAAGATTGTGTGGGCGACGGGGTCTGCGTGACCTTCTGGAGAAGCAGCCCTTTGGAT c.1440
N E D C V G D G V C V T F W R S S P L D p.480
. . . . . . g.15691
GTTGTAGATAGGAACAACAGAATCGCAATCTTATTAAAAACAGAAGGAATTAATTTGGTT c.1500
V V D R N N R I A I L L K T E G I N L V p.500
. . . . . . g.15751
ACGGCCGTGCTCACTAACCCAGTTACTGCACAGATGCAAATCAAAGAAGATAGGTTCTGG c.1560
T A V L T N P V T A Q M Q I K E D R F W p.520
. . . . . . g.15811
ACATGTGCCTATCGTTTGTATTATGCTCTAAAAGAGGAAAAGGTCTTCCTTGGAGGTGGT c.1620
T C A Y R L Y Y A L K E E K V F L G G G p.540
. . . . . . g.15871
GCAGTTGAATTTTTGTGTCTTAGCTGTCTTCATATTCTTGCAGAGCAATCTCTGAAAAAA c.1680
A V E F L C L S C L H I L A E Q S L K K p.560
. . . . . . g.15931
GAAAACCATGCCTGCTCAGGGTGGCTGCATAATACTTCCTCTTGGCTGGCTTCATCTCTG c.1740
E N H A C S G W L H N T S S W L A S S L p.580
. . . . . . g.15991
GCAATATACAGACCAACTGTGCTTAAATTCCTGGCAAATGGATGGCAGAAATACCTTTCA c.1800
A I Y R P T V L K F L A N G W Q K Y L S p.600
. . . . . . g.16051
ACTCTCCTATATAACACTGCCAATTACTCATCAGAATTTGAAGCCAGCACATACATTCAA c.1860
T L L Y N T A N Y S S E F E A S T Y I Q p.620
. . . . . . g.16111
CATCATCTGCAAAATGCCACAGACTCTGGCTCTCCTTCATCTTACATCTTGAATGAATAT c.1920
H H L Q N A T D S G S P S S Y I L N E Y p.640
. . . . . . g.16171
AGTAAACTAAATAGTAGAATTTTTAATTCAGACATTTCAAATAAACTGGAGCAGATTCCG c.1980
S K L N S R I F N S D I S N K L E Q I P p.660
. . . . . . g.16231
AGAGTTTATGACGTTGTTACACCAAAGATTGAGGCGTGGCGCCGAGCATTGGATTTAGTA c.2040
R V Y D V V T P K I E A W R R A L D L V p.680
. . . . . . g.16291
TTGTTAGTACTTCAGACAGACAGTGAAATAATTACTGGACATGGACACACACAGATAAAT c.2100
L L V L Q T D S E I I T G H G H T Q I N p.700
. . . g.16324
TCACAGGAATTAACGGGCTTTCTATTTTTGTAG c.2133
S Q E L T G F L F L X p.710
. . . . . . g.16384
tgttactggctaagtctttggaaaataatttttcataatatgtcatgctaataataaata c.*60
. . . . . . g.16444
tattgatagccaagtcatggtgcctaaaatgccagctattgccaagaagaaaatagttga c.*120
. . . . . . g.16504
tgtctgtcaataactgtgcatggtctgagattttaccctacttataagctaacaagttag c.*180
. . . . . . g.16564
cctgttactgtttcgtgggatgctacagaatgcataagacacctgggtcagaaacaaagg c.*240
. . . . . . g.16624
acttatcgctcacagcaaaagctgtagccagagcttcatgttggttttattcagttcctc c.*300
. . . . . . g.16684
atttttctagttcccacaggaggaacacaaagggcccatgatgaaagcctgcacacagtg c.*360
. . . . . . g.16744
ggttatgttgtaagcttgggttattaactgcttttatagtaagcaaaaaaatcctggtct c.*420
. . . . . . g.16804
ttgtccaaagggagttattaccccatacttgaagatagcttagtgtaaacacaagcctag c.*480
. . . . . . g.16864
gacatggactaggtaaagacaaagtccttgcattcttgacatacccagtaagtatgcagg c.*540
. . . . . . g.16924
gacactcagagcccatagtggatagtctcttccaacagtctgctcctcagcctgagatgt c.*600
. . . . . . g.16984
tcttggccaaacttgaattttcacatgagtatgccactctatcagctactctgattaacc c.*660
. . . . . . g.17044
tgacagtcgggttgtttagtcagtaccaaatttgttcatttggtctcatatagcaattaa c.*720
. . . . . . g.17104
tgcaggctattatcagacacagcagcaggatgaagccaacctgcagtattaacctcagtc c.*780
. . . . . . g.17164
ctgtcccccaaggtcttgactcaatcaactctaagttccaagggaggaccaataggtctt c.*840
. . . . . . g.17224
tttattaggcagccagaatgtagtgaaggacaatttattatactttatgacccaataaag c.*900
. g.17242
ggagctttgactgacgta c.*918
(downstream sequence)
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